Incidental Mutation 'IGL01591:Gm11596'
ID 91597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11596
Ensembl Gene ENSMUSG00000078261
Gene Name predicted gene 11596
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01591
Quality Score
Status
Chromosome 11
Chromosomal Location 99683501-99684179 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 99683624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 165 (C165*)
Ref Sequence ENSEMBL: ENSMUSP00000100679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105058]
AlphaFold B1AQB0
Predicted Effect probably null
Transcript: ENSMUST00000105058
AA Change: C165*
SMART Domains Protein: ENSMUSP00000100679
Gene: ENSMUSG00000078261
AA Change: C165*

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 48 2.7e-9 PFAM
Pfam:Keratin_B2 1 69 1.9e-10 PFAM
Pfam:Keratin_B2_2 14 58 1.1e-13 PFAM
Pfam:Keratin_B2_2 39 86 4.7e-11 PFAM
Pfam:Keratin_B2_2 84 128 8.2e-13 PFAM
Pfam:Keratin_B2_2 129 173 5.2e-12 PFAM
Pfam:Keratin_B2_2 164 205 3.7e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G T 11: 84,134,146 (GRCm39) G420W probably damaging Het
Adamts17 G A 7: 66,654,144 (GRCm39) R458H probably damaging Het
Adprs T C 4: 126,212,274 (GRCm39) T82A probably damaging Het
Ccdc158 T A 5: 92,809,900 (GRCm39) I203L probably benign Het
Commd10 C A 18: 47,096,735 (GRCm39) S47R probably benign Het
Crb1 T C 1: 139,165,077 (GRCm39) T1016A probably damaging Het
Crhbp T A 13: 95,580,295 (GRCm39) I95F probably damaging Het
Cyp3a11 A T 5: 145,812,291 (GRCm39) probably benign Het
Dsel A G 1: 111,787,425 (GRCm39) Y1037H probably benign Het
Epha1 T C 6: 42,337,485 (GRCm39) D898G probably damaging Het
Esr2 T A 12: 76,168,498 (GRCm39) probably benign Het
Exosc10 T A 4: 148,647,344 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,524 (GRCm39) R4827* probably null Het
Heatr5b A G 17: 79,115,901 (GRCm39) S852P probably benign Het
Mcm3ap C T 10: 76,306,639 (GRCm39) P251S probably benign Het
Nmur2 A G 11: 55,917,825 (GRCm39) V388A probably benign Het
Parp14 T C 16: 35,678,877 (GRCm39) T364A possibly damaging Het
Rarb T A 14: 16,434,207 (GRCm38) I370F possibly damaging Het
Rnf32 T A 5: 29,429,272 (GRCm39) I283N probably damaging Het
Smg8 A G 11: 86,975,979 (GRCm39) V77A probably damaging Het
Tnn T C 1: 159,953,144 (GRCm39) E632G probably damaging Het
Trip11 A T 12: 101,849,604 (GRCm39) S1487T probably damaging Het
Vmn2r58 T C 7: 41,514,753 (GRCm39) K72R probably benign Het
Vmn2r92 A G 17: 18,405,423 (GRCm39) I856V unknown Het
Other mutations in Gm11596
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Gm11596 APN 11 99,683,806 (GRCm39) missense unknown
BB005:Gm11596 UTSW 11 99,683,622 (GRCm39) missense unknown
BB015:Gm11596 UTSW 11 99,683,622 (GRCm39) missense unknown
R0256:Gm11596 UTSW 11 99,683,542 (GRCm39) missense unknown
R0299:Gm11596 UTSW 11 99,683,770 (GRCm39) missense unknown
R1126:Gm11596 UTSW 11 99,683,699 (GRCm39) nonsense probably null
R2143:Gm11596 UTSW 11 99,683,789 (GRCm39) nonsense probably null
R2144:Gm11596 UTSW 11 99,683,789 (GRCm39) nonsense probably null
R2372:Gm11596 UTSW 11 99,684,082 (GRCm39) nonsense probably null
R4865:Gm11596 UTSW 11 99,684,064 (GRCm39) unclassified probably benign
R5045:Gm11596 UTSW 11 99,683,695 (GRCm39) missense unknown
R5076:Gm11596 UTSW 11 99,683,698 (GRCm39) missense unknown
R5301:Gm11596 UTSW 11 99,683,847 (GRCm39) missense unknown
R5579:Gm11596 UTSW 11 99,683,717 (GRCm39) nonsense probably null
R6153:Gm11596 UTSW 11 99,683,524 (GRCm39) missense unknown
R7467:Gm11596 UTSW 11 99,683,962 (GRCm39) missense unknown
R7773:Gm11596 UTSW 11 99,683,667 (GRCm39) missense unknown
R7928:Gm11596 UTSW 11 99,683,622 (GRCm39) missense unknown
R8685:Gm11596 UTSW 11 99,683,816 (GRCm39) missense unknown
Posted On 2013-12-09