Incidental Mutation 'IGL00327:Krt23'
ID 4501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt23
Ensembl Gene ENSMUSG00000006777
Gene Name keratin 23
Synonyms CK23, Krt1-23, K23
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL00327
Quality Score
Status
Chromosome 11
Chromosomal Location 99477974-99493137 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99492784 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 94 (E94G)
Ref Sequence ENSEMBL: ENSMUSP00000006969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006969]
AlphaFold Q99PS0
Predicted Effect probably damaging
Transcript: ENSMUST00000006969
AA Change: E94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006969
Gene: ENSMUSG00000006777
AA Change: E94G

DomainStartEndE-ValueType
Filament 71 381 9.77e-116 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,300,160 L60S probably damaging Het
Aup1 A G 6: 83,056,409 E267G probably damaging Het
Bpi T C 2: 158,274,844 probably benign Het
Brinp2 A G 1: 158,247,100 Y484H probably benign Het
Colq C T 14: 31,535,588 probably null Het
Cubn T C 2: 13,427,056 D1242G possibly damaging Het
Dclre1c T A 2: 3,433,784 L95* probably null Het
Fry C T 5: 150,340,404 R171* probably null Het
Krt6b T G 15: 101,679,832 Q131P probably benign Het
Lonp1 A G 17: 56,619,265 L414P probably damaging Het
Lrit2 T A 14: 37,071,963 M328K probably benign Het
Lysmd3 C T 13: 81,665,078 L22F probably benign Het
Map3k20 A G 2: 72,412,170 D388G probably damaging Het
Mrpl44 C T 1: 79,781,004 L290F probably benign Het
Nell1 A G 7: 50,120,673 H160R probably damaging Het
Nlrc3 T C 16: 3,955,166 N109S probably damaging Het
Prpf40a T C 2: 53,150,688 T553A probably benign Het
Ptpn23 G T 9: 110,388,106 T894K probably benign Het
Scgb2b27 A G 7: 34,013,346 C24R probably damaging Het
Sipa1l3 G T 7: 29,354,133 H140N probably damaging Het
Slc22a23 T G 13: 34,305,245 D219A probably damaging Het
Slc9a7 T C X: 20,138,919 Y557C probably damaging Het
Slco1a1 A T 6: 141,909,125 I600N probably damaging Het
Tmx2 T C 2: 84,673,299 N190S probably benign Het
Tpr T G 1: 150,423,696 probably benign Het
Yme1l1 T C 2: 23,192,500 V501A probably benign Het
Other mutations in Krt23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Krt23 APN 11 99486767 missense probably benign
IGL01946:Krt23 APN 11 99492839 missense possibly damaging 0.78
IGL02097:Krt23 APN 11 99493010 missense probably benign 0.00
IGL02158:Krt23 APN 11 99492664 splice site probably benign
IGL03077:Krt23 APN 11 99483874 splice site probably benign
R0302:Krt23 UTSW 11 99478201 missense probably benign 0.09
R0355:Krt23 UTSW 11 99485787 missense probably benign 0.00
R0450:Krt23 UTSW 11 99486782 missense probably damaging 1.00
R0456:Krt23 UTSW 11 99486778 missense probably benign
R0469:Krt23 UTSW 11 99486782 missense probably damaging 1.00
R0480:Krt23 UTSW 11 99486698 critical splice donor site probably null
R0510:Krt23 UTSW 11 99486782 missense probably damaging 1.00
R1052:Krt23 UTSW 11 99478219 missense probably benign 0.02
R1729:Krt23 UTSW 11 99492964 missense probably damaging 1.00
R1784:Krt23 UTSW 11 99492964 missense probably damaging 1.00
R2901:Krt23 UTSW 11 99483971 missense probably damaging 0.98
R2902:Krt23 UTSW 11 99483971 missense probably damaging 0.98
R4059:Krt23 UTSW 11 99485788 missense probably benign 0.16
R4544:Krt23 UTSW 11 99478276 missense probably benign
R5272:Krt23 UTSW 11 99478273 missense probably damaging 1.00
R6160:Krt23 UTSW 11 99485718 missense probably damaging 0.99
R6190:Krt23 UTSW 11 99485758 missense probably damaging 0.98
R6968:Krt23 UTSW 11 99481074 missense probably damaging 1.00
R7293:Krt23 UTSW 11 99483856 missense probably benign
R7568:Krt23 UTSW 11 99492800 nonsense probably null
R8367:Krt23 UTSW 11 99492889 nonsense probably null
R8868:Krt23 UTSW 11 99483741 splice site probably benign
R9124:Krt23 UTSW 11 99492929 missense probably damaging 1.00
R9196:Krt23 UTSW 11 99481029 missense probably benign 0.27
Posted On 2012-04-20