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Table 2 Summary of PolyPhen and PANTHER annotations of missense SNPs

From: Mouse SNP Miner: an annotated database of mouse functional single nucleotide polymorphisms

Strains

 

Functional Predictions

Total SNP(%)

Genes Affected(%)

C57BL/6J vs. DBA/2J

PolyPhen

Deleterious

1,755 (19.4%)

954 (26.1%)

  

Benign

6,757 (74.5%)

2,343 (64%)

  

Unknown

567 (6.3%)

367 (10.1%)

  

Total

9,079

3,664

 

PANTHER

Deleterious

1,285 (14.2%)

632(17.1%)

  

non-deleterious

4,678 (51.6%)

1,736 (47%)

  

Unknown

3,116 (34.4%)

1,329 (36%)

  

Total

9,079

3,697

C57BL/6J vs. 129S1/SvImJ

PolyPhen

Deleterious

796 (19.5%)

480 (24.9%)

  

Benign

2,995 (73.4%)

1,270(65.7%)

  

Unknown

293 (7.2%)

185 (9.6%)

  

Total

4,084

1,935

 

PANTHER

Deleterious

568 (14%)

327(16.9%)

  

non-deleterious

2,049 (50.2%)

913 (47.1%)

  

Unknown

1,467 (36%)

701 (36.2%)

  

Total

4,084

1,941

C57BL/6J vs. A/J

PolyPhen

Deleterious

2,350 (18.9%)

1,197(26.1%)

  

Benign

9,220 (74.2%)

2,889 (63%)

  

Unknown

865 (7%)

504 (11%)

  

Total

12,435

4,590

 

PANTHER

Deleterious

1,785 (14.4%)

798(17.1%)

  

non-deleterious

6,443 (51.9%)

2,154(46.1%)

  

Unknown

4,207 (33.9%)

1,724 (36.9%)

  

Total

12,435

4,676

  1. According to PolyPhen, 20% of missense mutations contained in the database are predicted to be deleterious (either 'possibly' or 'probably' damaging) to protein function. According to PANTHER, 14% of missense mutations contained in the database are predicted to be deleterious to protein function.