Incidental Mutation 'IGL02085:Fam91a1'
ID283515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam91a1
Ensembl Gene ENSMUSG00000037119
Gene Namefamily with sequence similarity 91, member A1
SynonymsD15Ertd621e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02085
Quality Score
Status
Chromosome15
Chromosomal Location58415468-58457740 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58441656 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 497 (N497S)
Ref Sequence ENSEMBL: ENSMUSP00000036524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037270]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037270
AA Change: N497S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: N497S

DomainStartEndE-ValueType
Pfam:FAM91_N 8 312 2.8e-149 PFAM
Pfam:FAM91_C 374 821 3.8e-182 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228576
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,557 probably null Het
Akr1c14 T A 13: 4,078,035 C145* probably null Het
Arhgef26 A G 3: 62,459,724 probably benign Het
Asb9 A G X: 164,535,456 M215V probably benign Het
Atoh8 C A 6: 72,235,173 probably benign Het
Atp6v1b1 T A 6: 83,753,915 probably benign Het
Cep97 T C 16: 55,915,505 E310G probably damaging Het
Ctrc C T 4: 141,843,714 D72N possibly damaging Het
Dnah2 A G 11: 69,458,185 I2492T probably benign Het
Emilin2 A G 17: 71,275,149 V194A probably damaging Het
Epb41l5 T C 1: 119,572,856 T524A probably benign Het
Gabpb1 A T 2: 126,639,271 C319* probably null Het
Galnt10 A G 11: 57,782,278 T487A probably benign Het
Hecw2 T A 1: 53,942,802 probably null Het
Hmg20a C T 9: 56,477,302 Q119* probably null Het
Ifi44l A G 3: 151,762,840 S18P unknown Het
Immt T A 6: 71,851,836 V125E probably benign Het
Ints13 T C 6: 146,549,939 probably benign Het
Lrp1b C T 2: 40,889,309 G2574S probably benign Het
Myoc T C 1: 162,639,774 C171R probably benign Het
Ncbp1 C T 4: 46,159,699 T404M probably damaging Het
Npy6r A G 18: 44,275,931 N140D probably damaging Het
Nrxn2 A T 19: 6,492,868 M1041L possibly damaging Het
Nsmaf G A 4: 6,398,551 P851L probably benign Het
Nutm2 T A 13: 50,473,793 probably null Het
Olfr117 A G 17: 37,659,688 V215A probably benign Het
Olfr1314 A C 2: 112,092,524 M59R probably damaging Het
Olfr1329 A G 4: 118,916,750 F239S probably damaging Het
Padi2 T G 4: 140,927,157 Y206* probably null Het
Pcdh19 A T X: 133,681,258 Y766* probably null Het
Pde12 A G 14: 26,666,464 probably benign Het
Ppl C T 16: 5,089,816 G872R probably benign Het
Prkag3 C T 1: 74,748,812 probably benign Het
Ptgfr T C 3: 151,835,800 T24A probably benign Het
Rpe65 T C 3: 159,615,646 V365A probably benign Het
Shank3 T C 15: 89,503,915 probably null Het
Slco1a6 T C 6: 142,086,474 T642A probably benign Het
Slco6d1 C A 1: 98,443,743 P275T probably damaging Het
Smarca1 G T X: 47,875,232 Q343K probably damaging Het
Smoc2 A G 17: 14,347,233 T180A possibly damaging Het
Tfrc G A 16: 32,621,186 V406I probably benign Het
Tigit C T 16: 43,649,110 G206D probably benign Het
Triobp G A 15: 78,974,297 probably benign Het
Trmo T C 4: 46,380,217 Y384C probably damaging Het
Vmn1r89 T A 7: 13,219,538 I67N probably damaging Het
Wdr17 C A 8: 54,687,736 E194* probably null Het
Other mutations in Fam91a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Fam91a1 APN 15 58430735 missense probably damaging 0.99
IGL00590:Fam91a1 APN 15 58415716 missense possibly damaging 0.66
IGL01301:Fam91a1 APN 15 58442871 missense probably damaging 0.99
IGL01372:Fam91a1 APN 15 58430062 missense probably damaging 1.00
IGL01979:Fam91a1 APN 15 58432584 missense probably damaging 1.00
IGL02553:Fam91a1 APN 15 58432982 critical splice donor site probably null
IGL02605:Fam91a1 APN 15 58431196 splice site probably benign
IGL02882:Fam91a1 APN 15 58453061 splice site probably benign
IGL02894:Fam91a1 APN 15 58443231 missense probably benign 0.09
ANU18:Fam91a1 UTSW 15 58442871 missense probably damaging 0.99
H8562:Fam91a1 UTSW 15 58427121 splice site probably null
R0395:Fam91a1 UTSW 15 58454792 missense probably benign
R1165:Fam91a1 UTSW 15 58430669 missense possibly damaging 0.90
R1699:Fam91a1 UTSW 15 58432948 missense probably benign 0.04
R1749:Fam91a1 UTSW 15 58426594 missense probably benign 0.02
R1997:Fam91a1 UTSW 15 58424195 critical splice acceptor site probably null
R2042:Fam91a1 UTSW 15 58426594 missense probably benign 0.02
R2188:Fam91a1 UTSW 15 58430663 missense probably damaging 0.98
R2518:Fam91a1 UTSW 15 58450600 missense possibly damaging 0.92
R3124:Fam91a1 UTSW 15 58421889 missense probably benign 0.34
R3916:Fam91a1 UTSW 15 58430734 missense probably damaging 1.00
R4810:Fam91a1 UTSW 15 58434740 missense probably damaging 1.00
R4959:Fam91a1 UTSW 15 58431210 missense probably benign 0.16
R4973:Fam91a1 UTSW 15 58431210 missense probably benign 0.16
R5288:Fam91a1 UTSW 15 58448394 missense probably benign
R5385:Fam91a1 UTSW 15 58448394 missense probably benign
R5386:Fam91a1 UTSW 15 58448394 missense probably benign
R5941:Fam91a1 UTSW 15 58431317 missense probably benign 0.01
R6415:Fam91a1 UTSW 15 58442917 missense probably damaging 1.00
R6869:Fam91a1 UTSW 15 58431268 missense probably benign 0.00
R7175:Fam91a1 UTSW 15 58430678 missense probably benign 0.06
R7872:Fam91a1 UTSW 15 58448360 missense probably benign 0.01
X0024:Fam91a1 UTSW 15 58430189 missense probably damaging 0.98
Z1177:Fam91a1 UTSW 15 58432548 missense possibly damaging 0.68
Posted On2015-04-16