Incidental Mutation 'IGL01976:Izumo1r'
ID182676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Izumo1r
Ensembl Gene ENSMUSG00000031933
Gene NameIZUMO1 receptor, JUNO
SynonymsFolbp3, Folr4, Juno, 0910001L11Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01976
Quality Score
Status
Chromosome9
Chromosomal Location14885814-14903949 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14901679 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 99 (C99Y)
Ref Sequence ENSEMBL: ENSMUSP00000118680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034409] [ENSMUST00000069408] [ENSMUST00000117620] [ENSMUST00000121116] [ENSMUST00000148155]
Predicted Effect probably damaging
Transcript: ENSMUST00000034409
AA Change: C99Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034409
Gene: ENSMUSG00000031933
AA Change: C99Y

DomainStartEndE-ValueType
Pfam:Folate_rec 26 202 4e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069408
AA Change: C99Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063632
Gene: ENSMUSG00000031933
AA Change: C99Y

DomainStartEndE-ValueType
Pfam:Folate_rec 26 159 5e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117620
AA Change: C99Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113459
Gene: ENSMUSG00000031933
AA Change: C99Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 26 170 1.2e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121116
AA Change: C99Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113387
Gene: ENSMUSG00000031933
AA Change: C99Y

DomainStartEndE-ValueType
Pfam:Folate_rec 26 176 1.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148155
AA Change: C99Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118680
Gene: ENSMUSG00000031933
AA Change: C99Y

DomainStartEndE-ValueType
Pfam:Folate_rec 26 143 1.6e-38 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene causes female infertility. Homozygous null eggs do not fuse with normal sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,622,665 V1960A possibly damaging Het
Asph A T 4: 9,475,471 N537K probably damaging Het
Bnip2 T C 9: 70,000,834 probably benign Het
Cc2d2a C A 5: 43,683,115 Q104K probably benign Het
Cd300ld A G 11: 114,987,444 S81P probably damaging Het
Clec4a1 T C 6: 122,928,074 probably benign Het
Dnajb8 T C 6: 88,222,526 S15P probably damaging Het
Erp27 C A 6: 136,919,989 V72L probably damaging Het
Gm13103 A G 4: 143,852,793 N316S probably benign Het
Gpr156 A G 16: 37,979,033 T131A probably damaging Het
Grk1 T C 8: 13,415,993 V479A probably damaging Het
Hist1h2ba T A 13: 23,933,999 D53V possibly damaging Het
Hspg2 A G 4: 137,561,926 D3784G probably damaging Het
Irf2 A T 8: 46,807,225 K26M probably damaging Het
Irx6 C A 8: 92,676,089 C27* probably null Het
Klrb1a T A 6: 128,618,109 T132S probably benign Het
Mmp13 C T 9: 7,278,974 probably benign Het
Myo5b G A 18: 74,698,277 R766Q probably damaging Het
Myt1 T C 2: 181,795,739 L81P probably damaging Het
Nfat5 G A 8: 107,367,559 V793I probably damaging Het
Nup210 A G 6: 91,053,614 V108A possibly damaging Het
Olfr32 A G 2: 90,138,924 S72P probably damaging Het
Omd T A 13: 49,589,643 Y56* probably null Het
Psmd9 A G 5: 123,234,634 E60G probably damaging Het
Rab11fip1 T C 8: 27,152,797 E658G possibly damaging Het
Smchd1 T A 17: 71,394,725 K1091* probably null Het
Supt16 A T 14: 52,182,307 N111K possibly damaging Het
Trrap A G 5: 144,856,989 T3666A probably benign Het
Ttn T C 2: 76,785,751 D8289G probably damaging Het
Ush2a T A 1: 188,911,241 S4267T probably benign Het
Usp50 T A 2: 126,709,466 E31V probably benign Het
Other mutations in Izumo1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1579:Izumo1r UTSW 9 14901802 missense probably benign 0.01
R1637:Izumo1r UTSW 9 14901809 missense probably damaging 1.00
R5263:Izumo1r UTSW 9 14901680 missense probably damaging 1.00
R5665:Izumo1r UTSW 9 14900849 missense probably damaging 1.00
X0062:Izumo1r UTSW 9 14901793 missense probably damaging 1.00
Posted On2014-05-07