Incidental Mutation 'IGL01448:Spata31d1a'
ID 84518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31d1a
Ensembl Gene ENSMUSG00000050876
Gene Name spermatogenesis associated 31 subfamily D, member 1A
Synonyms 1700013B16Rik, Fam75d3, Fam75d1a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01448
Quality Score
Status
Chromosome 13
Chromosomal Location 59847897-59854401 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59849373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 918 (R918S)
Ref Sequence ENSEMBL: ENSMUSP00000152919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]
AlphaFold E9QA35
Predicted Effect probably benign
Transcript: ENSMUST00000066510
AA Change: R918S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: R918S

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:DUF4599 66 150 3.7e-25 PFAM
low complexity region 196 217 N/A INTRINSIC
low complexity region 240 266 N/A INTRINSIC
Pfam:FAM75 400 772 2.9e-108 PFAM
low complexity region 1144 1154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224469
Predicted Effect probably benign
Transcript: ENSMUST00000224982
AA Change: R918S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225362
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Spata31d1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Spata31d1a APN 13 59,849,999 (GRCm39) missense probably benign 0.27
IGL01397:Spata31d1a APN 13 59,849,552 (GRCm39) missense probably damaging 0.99
IGL02715:Spata31d1a APN 13 59,851,549 (GRCm39) missense probably benign 0.44
IGL02983:Spata31d1a APN 13 59,851,508 (GRCm39) missense possibly damaging 0.65
IGL03224:Spata31d1a APN 13 59,848,840 (GRCm39) missense possibly damaging 0.85
PIT1430001:Spata31d1a UTSW 13 59,849,010 (GRCm39) missense probably benign
R0302:Spata31d1a UTSW 13 59,850,964 (GRCm39) missense probably benign
R0387:Spata31d1a UTSW 13 59,851,315 (GRCm39) missense probably damaging 0.99
R0464:Spata31d1a UTSW 13 59,849,573 (GRCm39) missense possibly damaging 0.85
R0606:Spata31d1a UTSW 13 59,850,245 (GRCm39) missense probably benign 0.03
R0617:Spata31d1a UTSW 13 59,850,073 (GRCm39) missense possibly damaging 0.53
R0691:Spata31d1a UTSW 13 59,848,199 (GRCm39) missense possibly damaging 0.93
R0746:Spata31d1a UTSW 13 59,850,077 (GRCm39) missense possibly damaging 0.95
R1019:Spata31d1a UTSW 13 59,850,182 (GRCm39) missense probably benign
R1397:Spata31d1a UTSW 13 59,852,853 (GRCm39) splice site probably benign
R1543:Spata31d1a UTSW 13 59,850,056 (GRCm39) missense probably benign
R1619:Spata31d1a UTSW 13 59,850,247 (GRCm39) nonsense probably null
R1799:Spata31d1a UTSW 13 59,851,216 (GRCm39) missense probably benign
R1820:Spata31d1a UTSW 13 59,849,069 (GRCm39) missense possibly damaging 0.86
R1885:Spata31d1a UTSW 13 59,849,821 (GRCm39) missense probably damaging 0.99
R1909:Spata31d1a UTSW 13 59,850,509 (GRCm39) missense probably damaging 0.99
R2012:Spata31d1a UTSW 13 59,850,370 (GRCm39) missense possibly damaging 0.93
R2099:Spata31d1a UTSW 13 59,853,885 (GRCm39) missense probably damaging 0.97
R2132:Spata31d1a UTSW 13 59,848,857 (GRCm39) missense probably damaging 0.96
R2224:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2225:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2226:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2358:Spata31d1a UTSW 13 59,851,702 (GRCm39) missense probably benign 0.00
R2495:Spata31d1a UTSW 13 59,849,807 (GRCm39) missense possibly damaging 0.93
R3081:Spata31d1a UTSW 13 59,850,907 (GRCm39) missense probably benign 0.15
R3151:Spata31d1a UTSW 13 59,849,180 (GRCm39) missense probably benign 0.06
R3971:Spata31d1a UTSW 13 59,849,971 (GRCm39) missense possibly damaging 0.85
R4156:Spata31d1a UTSW 13 59,852,861 (GRCm39) missense possibly damaging 0.92
R4760:Spata31d1a UTSW 13 59,849,459 (GRCm39) missense probably damaging 1.00
R4767:Spata31d1a UTSW 13 59,848,969 (GRCm39) missense probably benign 0.03
R4877:Spata31d1a UTSW 13 59,850,337 (GRCm39) missense probably damaging 0.99
R4894:Spata31d1a UTSW 13 59,849,542 (GRCm39) missense probably damaging 0.98
R4961:Spata31d1a UTSW 13 59,849,716 (GRCm39) missense possibly damaging 0.86
R4990:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R4991:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R4992:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R5088:Spata31d1a UTSW 13 59,848,966 (GRCm39) splice site probably null
R5094:Spata31d1a UTSW 13 59,852,858 (GRCm39) critical splice donor site probably null
R5330:Spata31d1a UTSW 13 59,848,217 (GRCm39) missense possibly damaging 0.86
R5587:Spata31d1a UTSW 13 59,850,432 (GRCm39) missense probably damaging 0.96
R5832:Spata31d1a UTSW 13 59,849,380 (GRCm39) missense probably damaging 0.98
R6073:Spata31d1a UTSW 13 59,850,808 (GRCm39) missense probably damaging 0.98
R6208:Spata31d1a UTSW 13 59,848,378 (GRCm39) missense probably damaging 0.98
R6224:Spata31d1a UTSW 13 59,854,134 (GRCm39) start gained probably benign
R6250:Spata31d1a UTSW 13 59,849,615 (GRCm39) missense possibly damaging 0.93
R6359:Spata31d1a UTSW 13 59,850,920 (GRCm39) missense probably benign
R6806:Spata31d1a UTSW 13 59,851,032 (GRCm39) missense probably benign
R6848:Spata31d1a UTSW 13 59,849,777 (GRCm39) missense possibly damaging 0.91
R6851:Spata31d1a UTSW 13 59,851,725 (GRCm39) missense unknown
R6985:Spata31d1a UTSW 13 59,850,907 (GRCm39) missense probably benign 0.15
R7007:Spata31d1a UTSW 13 59,851,448 (GRCm39) missense probably benign
R7037:Spata31d1a UTSW 13 59,848,138 (GRCm39) missense possibly damaging 0.96
R7124:Spata31d1a UTSW 13 59,850,301 (GRCm39) missense probably damaging 0.99
R7271:Spata31d1a UTSW 13 59,849,913 (GRCm39) missense probably benign 0.00
R7346:Spata31d1a UTSW 13 59,851,015 (GRCm39) missense probably benign
R7556:Spata31d1a UTSW 13 59,849,798 (GRCm39) missense probably benign 0.00
R7581:Spata31d1a UTSW 13 59,851,953 (GRCm39) critical splice donor site probably null
R7891:Spata31d1a UTSW 13 59,848,139 (GRCm39) missense possibly damaging 0.96
R7995:Spata31d1a UTSW 13 59,848,924 (GRCm39) missense probably benign 0.06
R8379:Spata31d1a UTSW 13 59,850,668 (GRCm39) missense probably benign 0.00
R8497:Spata31d1a UTSW 13 59,848,988 (GRCm39) missense possibly damaging 0.91
R8837:Spata31d1a UTSW 13 59,850,596 (GRCm39) missense possibly damaging 0.92
R9108:Spata31d1a UTSW 13 59,850,982 (GRCm39) missense probably benign 0.00
Z1177:Spata31d1a UTSW 13 59,850,899 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-11