Incidental Mutation 'IGL00962:AY761185'
ID28055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AY761185
Ensembl Gene ENSMUSG00000079120
Gene NamecDNA sequence AY761185
SynonymsCRS4C-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL00962
Quality Score
Status
Chromosome8
Chromosomal Location20943694-20944710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20944595 bp
ZygosityHeterozygous
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]
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: 67,431,653 probably null Het
Atp8b1 C T 18: 64,531,444 A1218T probably damaging Het
Fam167a G A 14: 63,462,455 E155K probably damaging Het
Fam35a A T 14: 34,249,251 V559E probably damaging Het
Fat3 C T 9: 15,915,519 G4379D probably benign Het
Fkbp10 A G 11: 100,421,817 T300A probably benign Het
Gm6665 T C 18: 31,820,151 K57R probably benign Het
Gnb4 T C 3: 32,593,169 T86A probably benign Het
H2-Q2 A G 17: 35,342,849 Y105C probably damaging Het
Ighv1-75 A G 12: 115,834,263 probably benign Het
Ilvbl A G 10: 78,583,338 T474A possibly damaging Het
Slc45a3 T A 1: 131,977,527 V96D probably damaging Het
Tmtc3 C T 10: 100,471,953 G201R probably damaging Het
Tnfsf14 G A 17: 57,192,906 Q83* probably null Het
Trpm2 A G 10: 77,943,916 probably benign Het
Ubr5 A T 15: 37,985,934 F2219I probably damaging Het
Utrn C T 10: 12,481,334 V2747I possibly damaging Het
Vcan T C 13: 89,662,052 N3207D probably damaging Het
Vmn1r35 A G 6: 66,679,377 V103A possibly damaging Het
Vmn2r97 A G 17: 18,929,228 T293A probably damaging Het
Wdr35 A G 12: 9,021,726 probably benign Het
Other mutations in AY761185
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03141:AY761185 APN 8 20944560 missense possibly damaging 0.56
FR4589:AY761185 UTSW 8 20943903 frame shift probably null
R0053:AY761185 UTSW 8 20944530 splice site probably benign
R0053:AY761185 UTSW 8 20944530 splice site probably benign
R0270:AY761185 UTSW 8 20944600 missense possibly damaging 0.77
R5274:AY761185 UTSW 8 20943873 missense unknown
R6636:AY761185 UTSW 8 20944540 splice site probably null
R6888:AY761185 UTSW 8 20944555 nonsense probably null
Posted On2013-04-17