Incidental Mutation 'IGL02344:AI467606'
ID 289214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI467606
Ensembl Gene ENSMUSG00000045165
Gene Name expressed sequence AI467606
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02344
Quality Score
Status
Chromosome 7
Chromosomal Location 126690531-126693158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126691691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 89 (A89S)
Ref Sequence ENSEMBL: ENSMUSP00000146315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056288] [ENSMUST00000206102]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056288
AA Change: A89S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063016
Gene: ENSMUSG00000045165
AA Change: A89S

DomainStartEndE-ValueType
Pfam:DUF4689 1 224 1.1e-118 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206102
AA Change: A89S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T C 2: 34,979,198 (GRCm39) N167D probably benign Het
Atrip T A 9: 108,901,692 (GRCm39) K122* probably null Het
B3glct C T 5: 149,650,313 (GRCm39) R139* probably null Het
Cep135 A G 5: 76,764,668 (GRCm39) T549A probably benign Het
Chd8 T C 14: 52,439,107 (GRCm39) N64S probably damaging Het
Dock2 T C 11: 34,622,337 (GRCm39) I101V probably damaging Het
Ipo5 T C 14: 121,180,191 (GRCm39) probably benign Het
Ly6g5c A G 17: 35,329,723 (GRCm39) T68A possibly damaging Het
Mthfd1l A G 10: 3,998,272 (GRCm39) probably null Het
Nme8 T A 13: 19,858,574 (GRCm39) E88V possibly damaging Het
Ptpn4 A T 1: 119,700,990 (GRCm39) D86E probably damaging Het
Rnf169 A G 7: 99,575,642 (GRCm39) S318P probably damaging Het
Sidt2 T C 9: 45,856,590 (GRCm39) Y493C probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tet3 A G 6: 83,380,815 (GRCm39) V451A probably benign Het
Tmc3 A T 7: 83,258,302 (GRCm39) I431L probably benign Het
Trp73 C T 4: 154,146,500 (GRCm39) G420S possibly damaging Het
Vmn2r108 T C 17: 20,689,405 (GRCm39) S517G probably damaging Het
Other mutations in AI467606
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:AI467606 APN 7 126,691,505 (GRCm39) missense probably benign 0.08
IGL00952:AI467606 APN 7 126,691,874 (GRCm39) missense probably damaging 0.98
R0401:AI467606 UTSW 7 126,691,608 (GRCm39) missense probably damaging 1.00
R1628:AI467606 UTSW 7 126,691,755 (GRCm39) missense probably benign
R2063:AI467606 UTSW 7 126,692,009 (GRCm39) missense probably damaging 1.00
R5520:AI467606 UTSW 7 126,691,998 (GRCm39) missense probably benign
R6392:AI467606 UTSW 7 126,691,717 (GRCm39) nonsense probably null
R7941:AI467606 UTSW 7 126,691,593 (GRCm39) missense probably damaging 1.00
R8984:AI467606 UTSW 7 126,691,673 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16