Incidental Mutation 'IGL00962:AY761185'
ID 28055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AY761185
Ensembl Gene ENSMUSG00000079120
Gene Name cDNA sequence AY761185
Synonyms CRS4C-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL00962
Quality Score
Status
Chromosome 8
Chromosomal Location 21433710-21434726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21434611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
Ref Sequence ENSEMBL: ENSMUSP00000106386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110758]
AlphaFold Q5ERI8
Predicted Effect possibly damaging
Transcript: ENSMUST00000110758
AA Change: D39G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106386
Gene: ENSMUSG00000079120
AA Change: D39G

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 2.2e-24 PFAM
low complexity region 61 89 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,564,723 (GRCm39) probably null Het
Atp8b1 C T 18: 64,664,515 (GRCm39) A1218T probably damaging Het
Fam167a G A 14: 63,699,904 (GRCm39) E155K probably damaging Het
Fat3 C T 9: 15,826,815 (GRCm39) G4379D probably benign Het
Fkbp10 A G 11: 100,312,643 (GRCm39) T300A probably benign Het
Gm6665 T C 18: 31,953,204 (GRCm39) K57R probably benign Het
Gnb4 T C 3: 32,647,318 (GRCm39) T86A probably benign Het
H2-Q2 A G 17: 35,561,825 (GRCm39) Y105C probably damaging Het
Ighv1-75 A G 12: 115,797,883 (GRCm39) probably benign Het
Ilvbl A G 10: 78,419,172 (GRCm39) T474A possibly damaging Het
Shld2 A T 14: 33,971,208 (GRCm39) V559E probably damaging Het
Slc45a3 T A 1: 131,905,265 (GRCm39) V96D probably damaging Het
Tmtc3 C T 10: 100,307,815 (GRCm39) G201R probably damaging Het
Tnfsf14 G A 17: 57,499,906 (GRCm39) Q83* probably null Het
Trpm2 A G 10: 77,779,750 (GRCm39) probably benign Het
Ubr5 A T 15: 37,986,178 (GRCm39) F2219I probably damaging Het
Utrn C T 10: 12,357,078 (GRCm39) V2747I possibly damaging Het
Vcan T C 13: 89,810,171 (GRCm39) N3207D probably damaging Het
Vmn1r35 A G 6: 66,656,361 (GRCm39) V103A possibly damaging Het
Vmn2r97 A G 17: 19,149,490 (GRCm39) T293A probably damaging Het
Wdr35 A G 12: 9,071,726 (GRCm39) probably benign Het
Other mutations in AY761185
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03141:AY761185 APN 8 21,434,576 (GRCm39) missense possibly damaging 0.56
FR4589:AY761185 UTSW 8 21,433,919 (GRCm39) frame shift probably null
R0053:AY761185 UTSW 8 21,434,546 (GRCm39) splice site probably benign
R0053:AY761185 UTSW 8 21,434,546 (GRCm39) splice site probably benign
R0270:AY761185 UTSW 8 21,434,616 (GRCm39) missense possibly damaging 0.77
R5274:AY761185 UTSW 8 21,433,889 (GRCm39) missense unknown
R6636:AY761185 UTSW 8 21,434,556 (GRCm39) splice site probably null
R6888:AY761185 UTSW 8 21,434,571 (GRCm39) nonsense probably null
RF010:AY761185 UTSW 8 21,433,927 (GRCm39) frame shift probably null
RF025:AY761185 UTSW 8 21,433,918 (GRCm39) frame shift probably null
RF030:AY761185 UTSW 8 21,433,916 (GRCm39) frame shift probably null
RF033:AY761185 UTSW 8 21,433,904 (GRCm39) small deletion probably benign
RF041:AY761185 UTSW 8 21,433,928 (GRCm39) frame shift probably null
RF059:AY761185 UTSW 8 21,433,930 (GRCm39) frame shift probably null
Posted On 2013-04-17