Incidental Mutation 'IGL00657:Krt7'
ID88908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt7
Ensembl Gene ENSMUSG00000023039
Gene Namekeratin 7
SynonymsCytokeratin 7, D15Wsu77e, Krt2-7, K7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00657
Quality Score
Status
Chromosome15
Chromosomal Location101411043-101430313 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 101427085 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068904] [ENSMUST00000081945]
Predicted Effect probably benign
Transcript: ENSMUST00000068904
SMART Domains Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Pfam:Keratin_2_head 43 81 3.2e-12 PFAM
Filament 84 396 1.95e-174 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081945
SMART Domains Protein: ENSMUSP00000080613
Gene: ENSMUSG00000047641

DomainStartEndE-ValueType
Pfam:Keratin_2_head 3 107 1e-12 PFAM
Filament 110 421 6.45e-148 SMART
low complexity region 425 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183401
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 gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation of urothelial cells without histological evidence of hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cntnap2 A G 6: 46,988,787 D844G probably damaging Het
Lrig2 T C 3: 104,467,171 E556G probably damaging Het
Mettl15 A G 2: 109,093,207 I290T probably damaging Het
Mysm1 T C 4: 94,960,365 E477G probably benign Het
Nasp T C 4: 116,604,219 Y234C probably damaging Het
Nipal2 A G 15: 34,600,078 Y198H probably damaging Het
Nup153 T A 13: 46,681,150 probably benign Het
Prdm1 A G 10: 44,441,892 S327P probably damaging Het
Rhobtb1 C A 10: 69,270,221 D267E probably damaging Het
Sec31a G A 5: 100,404,017 Q166* probably null Het
Sphkap A G 1: 83,276,375 C931R probably damaging Het
Sytl2 A G 7: 90,401,410 R695G probably benign Het
Usp31 A G 7: 121,648,231 S1330P probably benign Het
Other mutations in Krt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Krt7 APN 15 101423421 missense probably benign 0.17
IGL02229:Krt7 APN 15 101427616 missense probably benign 0.09
IGL03366:Krt7 APN 15 101427610 missense possibly damaging 0.87
R0256:Krt7 UTSW 15 101423309 nonsense probably null
R1648:Krt7 UTSW 15 101412567 missense probably damaging 1.00
R1696:Krt7 UTSW 15 101423426 missense probably benign 0.01
R1779:Krt7 UTSW 15 101423409 missense probably damaging 1.00
R1837:Krt7 UTSW 15 101419582 missense probably benign 0.42
R2045:Krt7 UTSW 15 101423484 unclassified probably null
R2510:Krt7 UTSW 15 101412657 missense probably benign 0.01
R2511:Krt7 UTSW 15 101412657 missense probably benign 0.01
R4041:Krt7 UTSW 15 101423280 unclassified probably null
R4729:Krt7 UTSW 15 101420558 missense probably benign 0.03
R4964:Krt7 UTSW 15 101413972 missense probably damaging 1.00
R5032:Krt7 UTSW 15 101412547 missense probably benign 0.00
R6023:Krt7 UTSW 15 101412397 intron probably benign
R6270:Krt7 UTSW 15 101419558 missense probably damaging 1.00
R7019:Krt7 UTSW 15 101413970 missense probably damaging 1.00
R7645:Krt7 UTSW 15 101412643 missense probably damaging 1.00
R7773:Krt7 UTSW 15 101414032 missense possibly damaging 0.49
R7844:Krt7 UTSW 15 101412634 missense possibly damaging 0.80
R7927:Krt7 UTSW 15 101412634 missense possibly damaging 0.80
X0026:Krt7 UTSW 15 101412772 missense probably damaging 0.98
Z1177:Krt7 UTSW 15 101423467 missense probably damaging 1.00
Posted On2013-12-03