Incidental Mutation 'IGL00334:Gm11565'
ID6024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11565
Ensembl Gene ENSMUSG00000078256
Gene Namepredicted gene 11565
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.014) question?
Stock #IGL00334
Quality Score
Status
Chromosome11
Chromosomal Location99914751-99915671 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99915195 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 138 (C138S)
Ref Sequence ENSEMBL: ENSMUSP00000100674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105053]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105053
AA Change: C138S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100674
Gene: ENSMUSG00000078256
AA Change: C138S

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
low complexity region 40 56 N/A INTRINSIC
Pfam:Keratin_B2_2 64 100 2.7e-8 PFAM
Pfam:Keratin_B2_2 102 144 7.3e-5 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Gm11565
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Gm11565 APN 11 99915076 missense probably damaging 0.98
IGL02428:Gm11565 APN 11 99914985 missense probably benign
R2258:Gm11565 UTSW 11 99915018 missense possibly damaging 0.71
R2259:Gm11565 UTSW 11 99915018 missense possibly damaging 0.71
R4591:Gm11565 UTSW 11 99914943 missense possibly damaging 0.53
R4673:Gm11565 UTSW 11 99915214 missense probably benign 0.04
R6158:Gm11565 UTSW 11 99914918 nonsense probably null
R6193:Gm11565 UTSW 11 99915244 missense probably benign
Z1176:Gm11565 UTSW 11 99914851 missense possibly damaging 0.73
Posted On2012-04-20