Incidental Mutation 'IGL02428:Gm11565'
ID292990
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 #IGL02428
Quality Score
Status
Chromosome11
Chromosomal Location99914751-99915671 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99914985 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 68 (T68A)
Ref Sequence ENSEMBL: ENSMUSP00000100674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105053]
Predicted Effect probably benign
Transcript: ENSMUST00000105053
AA Change: T68A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100674
Gene: ENSMUSG00000078256
AA Change: T68A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,388,248 probably benign Het
AB124611 C T 9: 21,528,925 S69L possibly damaging Het
Abca6 G A 11: 110,178,792 A1566V possibly damaging Het
Ahnak A G 19: 9,014,833 I4494V possibly damaging Het
Ascc3 T A 10: 50,845,695 Y2081* probably null Het
Cdc42bpb T C 12: 111,323,127 T423A probably benign Het
Cdh6 T A 15: 13,064,430 I125F possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd2 T C 4: 128,474,816 L1845P possibly damaging Het
Epha4 A G 1: 77,506,748 V208A possibly damaging Het
Fanci A G 7: 79,444,516 probably benign Het
Fezf2 T C 14: 12,344,494 E231G probably damaging Het
Flnc A G 6: 29,451,485 D1566G probably damaging Het
Ifng G A 10: 118,445,254 R154H probably damaging Het
Il1r1 G A 1: 40,313,232 E521K possibly damaging Het
Irf3 G T 7: 44,998,739 L9F probably damaging Het
Jade1 T G 3: 41,613,939 I814S probably benign Het
Kcnh1 G A 1: 192,337,543 W365* probably null Het
Kif16b T C 2: 142,672,360 T1209A possibly damaging Het
Mcur1 A T 13: 43,541,727 S324T probably damaging Het
Mgat2 C A 12: 69,184,784 A44E probably benign Het
Mgea5 A T 19: 45,765,501 W645R probably damaging Het
Nox1 A G X: 134,107,834 probably benign Het
Olfr608 A T 7: 103,470,383 I115F probably benign Het
Olfr993 A G 2: 85,414,193 S229P probably benign Het
Pcnt A T 10: 76,429,256 I340N probably damaging Het
Pde11a T C 2: 76,046,845 E760G possibly damaging Het
Per3 C T 4: 151,018,217 probably null Het
Rabep1 G A 11: 70,917,480 A421T probably benign Het
Rint1 C T 5: 23,794,452 Q80* probably null Het
Rnaset2b G A 17: 6,981,169 probably null Het
Sccpdh T C 1: 179,680,505 Y237H probably benign Het
Scn10a T A 9: 119,691,562 T91S probably damaging Het
Spock1 A G 13: 57,444,432 probably benign Het
Stat1 A G 1: 52,142,966 probably benign Het
Svil A G 18: 5,118,203 E2212G probably damaging Het
Taok1 T A 11: 77,549,277 R635W probably benign Het
Vmn1r39 A G 6: 66,804,962 I124T probably benign Het
Vmn2r32 T C 7: 7,474,284 I369M probably benign Het
Other mutations in Gm11565
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Gm11565 APN 11 99915195 missense possibly damaging 0.71
IGL00552:Gm11565 APN 11 99915076 missense probably damaging 0.98
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 not run
Posted On2015-04-16