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Table 1 Mutations identified in the CMMB. Types of ENU-induced gene mutations identified by TGCE screening of DNA and cDNA templates from 4,000 C57BL/6J mice in the CMMB, and recovery of mutant lines from the cryopreserved sperm by ICSI.

From: Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice

Gene symbola Amplicon size (bp) Template (D-DNA C-cDNA) Number of individuals screenedb Mbp screened Mutations identified, (mouse #)c GenBank accession number Base mutationd Amino acid change Type of mutation Rederived by ICSI
Mc1r 579 D 1585* 0.917 0 NM_008559     
Mc1r 446 D 1667* 0.743 1 (1110) NM_008559 T781C Phe256Ser Nonconservative Yes
Mc1r 527 D 1671* 0.880 1 (997) AF176016 A115G Promoter Promotere Yes
Zfp111 352 D 1686* 0.593 0 NM_019940     
Zfp111 327 D 1250* 0.409 1 (803) NM_019940 G2182A 3' UTR 3' UTRf Yes
Scnm1 394 D 3641 1.434 0 NM_027013     
Scnm1 484 D 3400 1.645 1 (1128)
1 (3789)
NM_027013
AC140190
T428C
T19199C
Ile112Thr Intronic Nonconservative Intron 5g Yes
Scnm1 372 D 3800 1.414 1 (2364) NM_027013 A594G Ser167Ser Silent  
Usp29 300 D 3884 1.165 1 (3909) NM_021323 G1850A Glu124Lys Nonconservative Yes
Usp29 336 D 3544 1.191 1 (1954) NM_021323 T2933A Cys485Ser Conservative  
Usp29 298 D 3621 1.079 1 (573) NM_021323 A3516G Lys679Arg Conservative  
Zim1 298 D 2037* 0.607 1 (195) NM_011769 A808G Lys176Arg Conservative  
Zim1 298 D 3720 1.109 1 (2277) NM_011769 A1017G Lys246Glu Nonconservative  
Zim1 302 D 3726 1.125 1 (1027)
1 (3119)
NM_011769
NM 011769
T1660A
A1610G
Val460Glu
Gly443Gly
Nonconservative
Silent
 
Zim1 302 D 3801 1.148 0 NM_011769     
Myd88 429 D 3725 1.598 0 NM_010851     
Myd88 196 D 3669 0.719 0 NM_010851     
Myd88 497 D 3739 1.858 1 (364) NM_010851 G604A Val175Met Conservative  
Myd88 245 D 3836 0.940 1 (1569) NM_010851 T899A Ile273Lys Nonconservative Yes
Ap2s1 424 D 3754 1.592 0 NM_198613     
Capsl 372 D 3694 1.374 1 (661) NT_039618 T418425A Intronic Intron 2h  
Capsl 344 D 2422* 0.833 1 (1813) NM_029341 G665A Leu125Leu Silent  
Antxr1 419 D 3726 1.560 1 (832) AC153853 A188590G Intronic Intron 1i  
Antxr1 335 D 3739 1.253 1 (1176) AC153853 T94846A Intronic Intron 4j  
Antxr1 157 D 3841 0.603 0 NM_054041     
Antxr1 363 C 714* 0.259 0 NM_054041     
Antxr1 490 C 728* 0.357 0 NM_054041     
Antxr1 489 C 718* 0.351 0 NM_054041     
Ap2a1 510 C 713* 0.364 1 (131) NM_007458 A1446G Glu414Gly Nonconservative Yes
Ap2a1 543 C 732* 0.397 1 (663) NM_007458 T796A Asn197Lys Nonconservative Yes
Ap2a1 442 C 729* 0.322 0 NM_007458     
Ap2a1 531 C 730* 0.388 0 NM_007458     
Ap2a1 351 C 707* 0.248 0 NM_007458     
Pak4 503 C 441* 0.222 1 (61) NM_027470 C1094T Pro283Ser Nonconservative Yes
Pak4 477 C 728* 0.347 0 NM_027470     
Pak4 459 C 707* 0.325 0 NM_027470     
Pak4 412 C 728* 0.300 0 NM_027470     
Pak4 447 C 731* 0.327 0 NM_027470     
TOTAL     31.996 22      
  1. aMc1r, melanocortin 1 receptor; Zfp111, zinc finger protein 111; Scnm1, sodium channel modifier 1; Usp29, ubiquitin specific protease 29; Zim 1, zinc finger, imprinted 1; Myd88, myeloid differentiation primary response gene 88; Ap2s1, adaptor-related protein complex 2, sigma 1 subunit; Capsl, calcyphosine-like; Antxr1, anthrax toxin receptor 1; Ap2a1, adaptor protein complex AP-2, alpha 1 subunit; Pak4, p21 (CDKN1A)-activated kinase 4
  2. bAsterisk indicates that only a portion of the CMMB was screened for the amplicon
  3. cNumber in parentheses indicates the CMMB animal number in which the mutation was identified
  4. dBases are numbered according to corresponding GenBank accession number and refer to the sense strand
  5. e-681 bp upstream of start codon
  6. f+7 bp downstream of stop codon
  7. gintron 5, +62 bp downstream of end of exon 5
  8. hintron 2, -7 bp upstream of start of exon 3
  9. iintron 1, -33 bp upstream of start of exon 2
  10. jintron 4, +75 bp downstream of end of exon 4