Incidental Mutation 'IGL02399:Spata31d1d'
ID291837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31d1d
Ensembl Gene ENSMUSG00000043986
Gene Namespermatogenesis associated 31 subfamily D, member 1D
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02399
Quality Score
Status
Chromosome13
Chromosomal Location59725925-59731752 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 59730140 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052978]
Predicted Effect probably benign
Transcript: ENSMUST00000052978
SMART Domains Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:DUF4599 70 155 5.4e-28 PFAM
low complexity region 228 238 N/A INTRINSIC
low complexity region 284 298 N/A INTRINSIC
Pfam:FAM75 383 733 2.6e-93 PFAM
low complexity region 1017 1030 N/A INTRINSIC
low complexity region 1111 1129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225577
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,858,493 probably benign Het
Adarb1 G A 10: 77,295,754 P624S probably benign Het
Afg3l2 A T 18: 67,429,040 F322I possibly damaging Het
Arhgap23 A G 11: 97,491,005 probably benign Het
Armc4 G T 18: 7,285,719 Q215K probably benign Het
Atp13a1 A G 8: 69,807,101 N1114S probably damaging Het
C3ar1 T C 6: 122,849,879 N460D probably benign Het
Cacna1e A G 1: 154,403,747 Y1988H probably damaging Het
Calr T C 8: 84,842,786 probably benign Het
D5Ertd579e A G 5: 36,616,185 S289P probably damaging Het
Erbb4 G A 1: 68,042,437 probably benign Het
Fam98a A G 17: 75,538,941 probably benign Het
Gm3739 A T 14: 7,299,405 D83E possibly damaging Het
Gm5420 A T 10: 21,691,172 noncoding transcript Het
Heatr5b A G 17: 78,827,967 V245A probably damaging Het
Kptn C A 7: 16,127,113 probably benign Het
Llgl2 T C 11: 115,844,835 C86R probably damaging Het
Lrr1 T A 12: 69,168,891 C12* probably null Het
Mcf2 T C X: 60,135,452 D255G probably damaging Het
Med13 A T 11: 86,283,945 probably benign Het
Mthfd1 C T 12: 76,317,632 T735M probably damaging Het
Nlrp2 C T 7: 5,328,810 A196T probably damaging Het
Nnmt T C 9: 48,603,538 I60V probably damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr522 A T 7: 140,162,600 S117T probably benign Het
P2rx3 T C 2: 85,023,227 I140V probably benign Het
Patj A G 4: 98,591,936 N1293D probably damaging Het
Pitpnm2 G A 5: 124,140,758 probably benign Het
Ppp1r26 T G 2: 28,453,280 V974G probably benign Het
Prrc2b T A 2: 32,226,961 L1376* probably null Het
Rab33a T A X: 48,519,707 I36N probably damaging Het
Rab3gap1 A T 1: 127,928,103 N493I possibly damaging Het
Scara3 C A 14: 65,933,110 G107* probably null Het
Siglec1 T C 2: 131,071,178 E1606G probably benign Het
Skint9 A T 4: 112,389,250 Y222N possibly damaging Het
Slc47a1 A T 11: 61,363,058 I185N probably damaging Het
Slc47a2 C A 11: 61,302,194 probably benign Het
Slc4a2 A G 5: 24,434,713 I506V probably damaging Het
Slc9a4 A C 1: 40,600,782 I245L probably benign Het
Smarcb1 T C 10: 75,897,494 T357A probably damaging Het
Stox2 T A 8: 47,186,538 I874F probably damaging Het
Taar7b A T 10: 24,000,152 I72F probably damaging Het
Tacc2 G A 7: 130,623,399 V605I probably benign Het
Tef T C 15: 81,815,100 L34P probably damaging Het
Trak2 A G 1: 58,910,045 V532A probably benign Het
Usp13 T A 3: 32,919,060 D795E probably damaging Het
Vmn1r32 T A 6: 66,552,929 I288F probably benign Het
Vmn1r75 T C 7: 11,881,166 I275T possibly damaging Het
Zfp871 A T 17: 32,774,355 F615L probably benign Het
Zfp941 G A 7: 140,812,699 T249M probably benign Het
Zhx1 T C 15: 58,053,741 I370V probably damaging Het
Other mutations in Spata31d1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Spata31d1d APN 13 59730215 splice site probably benign
IGL02531:Spata31d1d APN 13 59727934 missense possibly damaging 0.86
IGL02687:Spata31d1d APN 13 59727864 missense possibly damaging 0.71
IGL02815:Spata31d1d APN 13 59726864 missense possibly damaging 0.72
IGL02893:Spata31d1d APN 13 59725979 missense possibly damaging 0.72
IGL03037:Spata31d1d APN 13 59726133 missense possibly damaging 0.86
IGL02796:Spata31d1d UTSW 13 59728243 missense possibly damaging 0.93
R0612:Spata31d1d UTSW 13 59727973 missense probably benign 0.06
R1345:Spata31d1d UTSW 13 59726024 missense possibly damaging 0.72
R1572:Spata31d1d UTSW 13 59728191 missense probably benign 0.01
R1736:Spata31d1d UTSW 13 59726497 missense probably benign 0.02
R1750:Spata31d1d UTSW 13 59728695 missense probably benign 0.33
R1894:Spata31d1d UTSW 13 59728122 missense probably benign 0.09
R2202:Spata31d1d UTSW 13 59731621 missense possibly damaging 0.82
R2203:Spata31d1d UTSW 13 59731621 missense possibly damaging 0.82
R2204:Spata31d1d UTSW 13 59731621 missense possibly damaging 0.82
R2913:Spata31d1d UTSW 13 59726955 missense possibly damaging 0.72
R3942:Spata31d1d UTSW 13 59727462 missense probably benign 0.18
R4513:Spata31d1d UTSW 13 59728554 missense probably benign 0.32
R4824:Spata31d1d UTSW 13 59729241 missense possibly damaging 0.86
R4959:Spata31d1d UTSW 13 59727288 missense probably damaging 1.00
R4970:Spata31d1d UTSW 13 59727520 missense probably benign 0.33
R5406:Spata31d1d UTSW 13 59728778 missense probably benign 0.33
R5618:Spata31d1d UTSW 13 59726400 missense probably benign 0.01
R5688:Spata31d1d UTSW 13 59726508 missense probably damaging 0.98
R5741:Spata31d1d UTSW 13 59728686 missense possibly damaging 0.86
R5867:Spata31d1d UTSW 13 59727240 missense possibly damaging 0.53
R5930:Spata31d1d UTSW 13 59727015 missense probably benign
R6263:Spata31d1d UTSW 13 59725983 missense probably benign 0.18
R6267:Spata31d1d UTSW 13 59728464 missense possibly damaging 0.93
R6296:Spata31d1d UTSW 13 59728464 missense possibly damaging 0.93
R6597:Spata31d1d UTSW 13 59726057 missense probably benign 0.01
R6985:Spata31d1d UTSW 13 59731615 missense probably benign 0.00
R7032:Spata31d1d UTSW 13 59728232 missense probably benign
R7174:Spata31d1d UTSW 13 59728580 missense possibly damaging 0.72
R7322:Spata31d1d UTSW 13 59726976 missense probably benign
R7444:Spata31d1d UTSW 13 59727193 missense probably benign 0.33
Posted On2015-04-16