Incidental Mutation 'IGL02428:Gm11565'
ID 292990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11565
Ensembl Gene ENSMUSG00000078256
Gene Name predicted gene 11565
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.014) question?
Stock # IGL02428
Quality Score
Status
Chromosome 11
Chromosomal Location 99805577-99806497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99805811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 68 (T68A)
Ref Sequence ENSEMBL: ENSMUSP00000100674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105053]
AlphaFold A2A4M7
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: 32,110,205 (GRCm39) probably benign Het
AB124611 C T 9: 21,440,221 (GRCm39) S69L possibly damaging Het
Abca6 G A 11: 110,069,618 (GRCm39) A1566V possibly damaging Het
Ahnak A G 19: 8,992,197 (GRCm39) I4494V possibly damaging Het
Ascc3 T A 10: 50,721,791 (GRCm39) Y2081* probably null Het
Cdc42bpb T C 12: 111,289,561 (GRCm39) T423A probably benign Het
Cdh6 T A 15: 13,064,516 (GRCm39) I125F possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,368,609 (GRCm39) L1845P possibly damaging Het
Epha4 A G 1: 77,483,385 (GRCm39) V208A possibly damaging Het
Fanci A G 7: 79,094,264 (GRCm39) probably benign Het
Fezf2 T C 14: 12,344,494 (GRCm38) E231G probably damaging Het
Flnc A G 6: 29,451,484 (GRCm39) D1566G probably damaging Het
Ifng G A 10: 118,281,159 (GRCm39) R154H probably damaging Het
Il1r1 G A 1: 40,352,392 (GRCm39) E521K possibly damaging Het
Irf3 G T 7: 44,648,163 (GRCm39) L9F probably damaging Het
Jade1 T G 3: 41,568,374 (GRCm39) I814S probably benign Het
Kcnh1 G A 1: 192,019,851 (GRCm39) W365* probably null Het
Kif16b T C 2: 142,514,280 (GRCm39) T1209A possibly damaging Het
Mcur1 A T 13: 43,695,203 (GRCm39) S324T probably damaging Het
Mgat2 C A 12: 69,231,558 (GRCm39) A44E probably benign Het
Nox1 A G X: 133,008,583 (GRCm39) probably benign Het
Oga A T 19: 45,753,940 (GRCm39) W645R probably damaging Het
Or52ae7 A T 7: 103,119,590 (GRCm39) I115F probably benign Het
Or5ak23 A G 2: 85,244,537 (GRCm39) S229P probably benign Het
Pcnt A T 10: 76,265,090 (GRCm39) I340N probably damaging Het
Pde11a T C 2: 75,877,189 (GRCm39) E760G possibly damaging Het
Per3 C T 4: 151,102,674 (GRCm39) probably null Het
Rabep1 G A 11: 70,808,306 (GRCm39) A421T probably benign Het
Rint1 C T 5: 23,999,450 (GRCm39) Q80* probably null Het
Rnaset2b G A 17: 7,248,568 (GRCm39) probably null Het
Sccpdh T C 1: 179,508,070 (GRCm39) Y237H probably benign Het
Scn10a T A 9: 119,520,628 (GRCm39) T91S probably damaging Het
Spock1 A G 13: 57,592,245 (GRCm39) probably benign Het
Stat1 A G 1: 52,182,125 (GRCm39) probably benign Het
Svil A G 18: 5,118,203 (GRCm39) E2212G probably damaging Het
Taok1 T A 11: 77,440,103 (GRCm39) R635W probably benign Het
Vmn1r39 A G 6: 66,781,946 (GRCm39) I124T probably benign Het
Vmn2r32 T C 7: 7,477,283 (GRCm39) I369M probably benign Het
Other mutations in Gm11565
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Gm11565 APN 11 99,806,021 (GRCm39) missense possibly damaging 0.71
IGL00552:Gm11565 APN 11 99,805,902 (GRCm39) missense probably damaging 0.98
R2258:Gm11565 UTSW 11 99,805,844 (GRCm39) missense possibly damaging 0.71
R2259:Gm11565 UTSW 11 99,805,844 (GRCm39) missense possibly damaging 0.71
R4591:Gm11565 UTSW 11 99,805,769 (GRCm39) missense possibly damaging 0.53
R4673:Gm11565 UTSW 11 99,806,040 (GRCm39) missense probably benign 0.04
R6158:Gm11565 UTSW 11 99,805,744 (GRCm39) nonsense probably null
R6193:Gm11565 UTSW 11 99,806,070 (GRCm39) missense probably benign
Z1176:Gm11565 UTSW 11 99,805,677 (GRCm39) missense possibly damaging 0.73
Posted On 2015-04-16