Incidental Mutation 'IGL02687:Spata31d1d'
ID303614
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 #IGL02687
Quality Score
Status
Chromosome13
Chromosomal Location59725925-59731752 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59727864 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 619 (H619L)
Ref Sequence ENSEMBL: ENSMUSP00000128200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052978]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052978
AA Change: H619L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: H619L

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: ENSMUST00000224724
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
BC051019 T C 7: 109,716,352 D84G possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Csgalnact2 T C 6: 118,124,415 probably null Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Dusp6 C A 10: 99,266,182 F343L probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Gm7995 A G 14: 42,311,405 I81V probably damaging Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Mpc1 G A 17: 8,297,143 S162N probably benign Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Olfr995 T A 2: 85,438,586 N191Y possibly damaging Het
Rab11a A G 9: 64,726,698 I119T probably damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly damaging Het
Other mutations in Spata31d1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Spata31d1d APN 13 59730215 splice site probably benign
IGL02399:Spata31d1d APN 13 59730140 splice site probably benign
IGL02531:Spata31d1d APN 13 59727934 missense possibly damaging 0.86
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