Incidental Mutation 'IGL02452:Gm11596'
ID293706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11596
Ensembl Gene ENSMUSG00000078261
Gene Namepredicted gene 11596
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02452
Quality Score
Status
Chromosome11
Chromosomal Location99792389-99793467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99792980 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 105 (C105S)
Ref Sequence ENSEMBL: ENSMUSP00000100679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105058]
Predicted Effect unknown
Transcript: ENSMUST00000105058
AA Change: C105S
SMART Domains Protein: ENSMUSP00000100679
Gene: ENSMUSG00000078261
AA Change: C105S

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,941,970 V11F probably damaging Het
Alk A T 17: 71,902,625 Y941* probably null Het
Armc4 C T 18: 7,129,461 E906K probably damaging Het
Blm A T 7: 80,503,377 probably null Het
Blvrb T C 7: 27,459,340 V55A possibly damaging Het
Cdh23 T A 10: 60,317,942 T2288S probably damaging Het
Csnk1g1 T A 9: 66,007,785 M242K probably damaging Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Cyp2d26 T A 15: 82,792,626 H173L probably benign Het
Cyp2g1 T A 7: 26,811,446 S131T probably benign Het
Dupd1 G A 14: 21,702,922 T52I probably damaging Het
Dzip3 T A 16: 48,938,537 probably benign Het
Espl1 T C 15: 102,299,839 S427P probably damaging Het
Fasn A T 11: 120,808,180 D2424E probably benign Het
Flrt2 G A 12: 95,779,483 M198I probably benign Het
Gen1 A T 12: 11,242,575 S404R probably benign Het
Gm8765 A T 13: 50,703,077 H917L probably damaging Het
Hdlbp A T 1: 93,417,511 V714D probably damaging Het
Igkv4-80 A G 6: 69,016,832 V25A probably benign Het
Igkv8-27 C T 6: 70,171,941 W76* probably null Het
Ikzf1 T C 11: 11,748,545 L132P probably damaging Het
Kcna6 C A 6: 126,738,480 C482F possibly damaging Het
Lhx9 A T 1: 138,841,842 L47Q probably damaging Het
Lrp4 T A 2: 91,474,002 D175E probably damaging Het
Lrrtm3 T C 10: 64,088,036 K451E probably damaging Het
Mcm9 C T 10: 53,541,557 V17M probably damaging Het
Mios T A 6: 8,222,492 S475R probably benign Het
Mmp24 C T 2: 155,815,788 R533C probably damaging Het
Moxd1 C T 10: 24,282,752 P435S probably damaging Het
Mta2 T A 19: 8,950,306 I497N probably benign Het
Mtus2 T C 5: 148,077,663 V422A probably benign Het
Ndufaf1 A T 2: 119,656,426 F260Y probably damaging Het
Nfasc C T 1: 132,620,924 probably null Het
Nid1 A T 13: 13,508,720 T1128S probably benign Het
Olfr583 A G 7: 103,051,931 D211G probably benign Het
Pcdh12 G A 18: 38,281,693 P793L probably benign Het
Pclo A T 5: 14,676,966 probably benign Het
Prpf31 T A 7: 3,634,186 N161K possibly damaging Het
Prpf6 T G 2: 181,649,085 N656K probably benign Het
Ptprn T A 1: 75,258,169 H258L probably benign Het
Rab19 A G 6: 39,389,798 T216A probably benign Het
Ryr3 A C 2: 112,833,990 L1652W probably damaging Het
Six2 A C 17: 85,685,378 S232R possibly damaging Het
Spag17 T C 3: 100,027,391 V663A probably benign Het
Spag5 A G 11: 78,304,623 N252S probably benign Het
Sptb C T 12: 76,609,036 probably null Het
Synj1 A G 16: 90,961,365 probably benign Het
Tekt2 T C 4: 126,324,852 H36R possibly damaging Het
Tjp1 A T 7: 65,312,655 M1258K probably damaging Het
Txnrd3 T C 6: 89,674,795 *502Q probably null Het
Other mutations in Gm11596
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Gm11596 APN 11 99792798 nonsense probably null
BB005:Gm11596 UTSW 11 99792796 missense unknown
BB015:Gm11596 UTSW 11 99792796 missense unknown
R0256:Gm11596 UTSW 11 99792716 missense unknown
R0299:Gm11596 UTSW 11 99792944 missense unknown
R1126:Gm11596 UTSW 11 99792873 nonsense probably null
R2143:Gm11596 UTSW 11 99792963 nonsense probably null
R2144:Gm11596 UTSW 11 99792963 nonsense probably null
R2372:Gm11596 UTSW 11 99793256 nonsense probably null
R4865:Gm11596 UTSW 11 99793238 unclassified probably benign
R5045:Gm11596 UTSW 11 99792869 missense unknown
R5076:Gm11596 UTSW 11 99792872 missense unknown
R5301:Gm11596 UTSW 11 99793021 missense unknown
R5579:Gm11596 UTSW 11 99792891 nonsense probably null
R6153:Gm11596 UTSW 11 99792698 missense unknown
R7467:Gm11596 UTSW 11 99793136 missense unknown
R7773:Gm11596 UTSW 11 99792841 missense unknown
R7928:Gm11596 UTSW 11 99792796 missense unknown
Posted On2015-04-16