Table 5 Heterozygous mutations in genes involved in sporulation

III

T

G

missense

AGOS_ACL181C

1,3-beta-D-glucan synthase (AgFKS1 or AgGSC2)

c.4596A > C

p.Lys1532Asn

II

T

G

missense

AGOS_ABL159W

Component of the septin ring (AgSHS1)

c.1229 T > G

p.Ile410Ser

IV

G

A

missense

AGOS_ADL029W

Component of the meiotic outer plaque of the spindle pole body (AgSPO74)

c.374G > A

p.Ser125Asn

V

A

ACAG

disruptive_inframe_insertion

AGOS_AER177W

Transcription factor targeting filamentation genes (AgTEC1)

c.1518_1520dupGCA

p.Gln507dup

IV

G

T

missense

AGOS_ADR317C

Dual-specificity kinase (AgMPS1)

c.2228C > A

p.Thr743Asn

VI

A

G

missense

AGOS_AFR400C

N-formyltyrosine oxidase (AgDIT2)

c.635 T > C

p.Ile212Thr

III

C

A

missense

AGOS_ACL179C

Meiosis-specific protein (AgSPO77)

c.1601G > T

p.Arg534Ile

VI

A

C

missense

AGOS_AFR436C

Component of the septin ring (AgCDC11)

c.371 T > G

p.Val124Gly

I

A

AT

frameshift

AGOS_AAR053W

1,3-beta-D-glucan synthase (AgGSC2 or AgFKS1 or AgFKS3)

c.916_917insT

p.Arg306fs

VI

T

C

missense

AGOS_AFR604C

Component of the meiotic outer plaque of the spindle pole body (AgSPO21)

c.2531A > G

p.Gln844Arg

VI

G

T

missense

AGOS_AFR469W

t-SNARE protein (AgSEC9)

c.918G > T

p.Glu306Asp

VI

C

T

missense

AGOS_AFR130W

Protein involved in the control of meiotic nuclear division (AgSSP1)

c.121C > T

p.Leu41Phe

IV

G

T

missense

AGOS_ADR416W

Mitotic exit network scaffold protein (AgNUD1)

c.1263G > T

p.Gln421His

VI

C

T

missense

AGOS_AFR111C

Component of the septin ring (AgCDC3)

c.203G > A

p.Gly68Asp

VII

G

A

missense

AGOS_AGR031W

Transcriptional repressor (AgNRG1 or AgNRG2)

c.107G > A

p.Ser36Asn

VI

A

T

missense

AGOS_AFR436C

Component of the septin ring (AgCDC11)

c.106 T > A

p.Ser36Thr

V

G

A

missense

AGOS_AER416C

EH domain-containing protein (AgEND3)

c.4C > T

p.Pro2Ser

VI

A

C

missense

AGOS_AFR076W

Serine/threonine protein kinase (AgIME2)

c.1142A > C

p.Tyr381Ser

IV

G

A

missense

AGOS_ADR400W

Gamma-tubulin small complex receptor (AgSPC72)

c.278G > A

p.Ser93Asn

IV

A

T

missense

AGOS_ADL029W

Component of the meiotic outer plaque of the spindle pole body (AgSPO74)

c.1390A > T

p.Ile464Phe

VII

G

A

missense

AGOS_AGL162C

Sm-like protein (AgSEC1)

c.1972C > T

p.Pro658Ser

III

T

G

missense

AGOS_ACR083C

Meiosis-specific component of the spindle pole body (AgDON1 or AgCUE5)

c.237A > C

p.Arg79Ser

III

C

A

missense

AGOS_ACL182C

1,3-beta-glucanosyltransferase (AgGAS2)

c.1161G > T

p.Glu387Asp

VI

A

C

missense

AGOS_AFR736C

Transcription factor required for response to pheromones (AgKAR4)

c.422 T > G

p.Phe141Cys