Incidental Mutation 'IGL02815:Spata31d1d'
ID360760
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 #IGL02815
Quality Score
Status
Chromosome13
Chromosomal Location59725925-59731752 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59726864 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 952 (N952K)
Ref Sequence ENSEMBL: ENSMUSP00000128200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052978]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052978
AA Change: N952K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: N952K

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,964,795 I3F probably benign Het
Alms1 G A 6: 85,667,957 probably null Het
Ap3m1 T C 14: 21,036,682 D393G probably damaging Het
Arfgef3 T A 10: 18,652,551 I363F probably damaging Het
Col19a1 T A 1: 24,285,251 probably null Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnmt3a G A 12: 3,904,226 probably null Het
Emc2 T A 15: 43,507,930 probably benign Het
Epm2aip1 T C 9: 111,273,560 S534P probably benign Het
Farp2 A C 1: 93,560,285 N78T probably damaging Het
Fut8 T A 12: 77,365,083 N106K probably benign Het
Gc A G 5: 89,457,659 probably null Het
Gemin5 T C 11: 58,146,409 Y660C probably damaging Het
Gfpt2 T A 11: 49,823,257 D280E possibly damaging Het
Il16 T C 7: 83,651,041 E348G probably damaging Het
Ints1 G A 5: 139,755,282 T1874M probably damaging Het
Klrb1b A G 6: 128,820,974 L52P probably damaging Het
Lamb3 A T 1: 193,325,555 probably benign Het
Med17 A C 9: 15,262,267 M637R probably damaging Het
Myo18b A G 5: 112,809,735 L1454P probably damaging Het
Mysm1 A T 4: 94,957,048 probably null Het
Naip5 T C 13: 100,222,731 T666A probably benign Het
Nbas T A 12: 13,310,266 S348T probably damaging Het
Pex1 A T 5: 3,636,797 K1226M probably damaging Het
Pi4ka A G 16: 17,358,889 probably benign Het
Pigr T A 1: 130,841,821 V123D probably damaging Het
Pilra G A 5: 137,831,305 P163S probably benign Het
Plekha4 T C 7: 45,538,412 S303P probably damaging Het
Prrc2b A G 2: 32,204,253 E549G probably damaging Het
Ptchd3 C T 11: 121,841,604 S440L probably benign Het
Rock2 A G 12: 16,966,701 probably benign Het
Scn1a A G 2: 66,324,858 S586P probably damaging Het
Slc38a6 T A 12: 73,292,205 H95Q probably damaging Het
Stard10 T A 7: 101,343,998 C254S probably benign Het
Taar8a A T 10: 24,077,380 Y294F probably benign Het
Tm7sf3 A T 6: 146,613,473 probably null Het
Tnfrsf8 A T 4: 145,298,778 V75D possibly damaging Het
Tor1aip1 C T 1: 156,035,916 R107H probably damaging Het
Trpc4 C T 3: 54,299,274 probably benign Het
Unc13c A G 9: 73,540,263 L1885P possibly damaging Het
Vmn2r9 T C 5: 108,842,990 D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 I1172F probably 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
IGL02687:Spata31d1d APN 13 59727864 missense possibly damaging 0.71
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
R8206:Spata31d1d UTSW 13 59731530 missense probably benign 0.03
Z1176:Spata31d1d UTSW 13 59726167 missense probably benign 0.18
Posted On2015-12-18