Incidental Mutation 'R6023:Krt7'
ID 502012
Institutional Source Beutler Lab
Gene Symbol Krt7
Ensembl Gene ENSMUSG00000023039
Gene Name keratin 7
Synonyms K7, D15Wsu77e, Krt2-7, Cytokeratin 7
MMRRC Submission 044195-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6023 (G1)
Quality Score 108.008
Status Validated
Chromosome 15
Chromosomal Location 101310284-101325687 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 101310278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068904] [ENSMUST00000147662]
AlphaFold Q9DCV7
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 noncoding transcript
Transcript: ENSMUST00000131069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141190
Predicted Effect probably benign
Transcript: ENSMUST00000147662
SMART Domains Protein: ENSMUSP00000117046
Gene: ENSMUSG00000023039

DomainStartEndE-ValueType
Pfam:Filament 1 115 4e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231016
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,757,843 (GRCm39) N1302S possibly damaging Het
Aff3 A T 1: 38,257,451 (GRCm39) S424T probably damaging Het
Ap2b1 C T 11: 83,226,224 (GRCm39) T207M probably damaging Het
Appl2 T C 10: 83,484,393 (GRCm39) Q18R probably null Het
Atrn T C 2: 130,862,900 (GRCm39) F1327L probably benign Het
Birc6 A T 17: 74,961,372 (GRCm39) I47F probably benign Het
Cdh23 A T 10: 60,301,321 (GRCm39) I451N probably damaging Het
Clec3a A G 8: 115,144,883 (GRCm39) T20A possibly damaging Het
Cpz T A 5: 35,669,922 (GRCm39) I252F probably benign Het
Ctc1 A G 11: 68,913,433 (GRCm39) D143G probably benign Het
Dhrs1 A T 14: 55,981,127 (GRCm39) Y94* probably null Het
Dnajc25 A G 4: 59,013,752 (GRCm39) K157E possibly damaging Het
Dpp6 T C 5: 27,928,545 (GRCm39) I789T probably damaging Het
Duox1 T G 2: 122,168,165 (GRCm39) F1097V probably benign Het
Ercc8 A G 13: 108,315,111 (GRCm39) T242A probably damaging Het
Evc2 T A 5: 37,505,960 (GRCm39) M93K probably benign Het
Glra1 A T 11: 55,424,679 (GRCm39) V94E probably damaging Het
Got1l1 A T 8: 27,689,932 (GRCm39) Y151* probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Ighv1-72 T A 12: 115,721,532 (GRCm39) probably benign Het
Kel C A 6: 41,674,409 (GRCm39) E340D probably benign Het
Kif11 A G 19: 37,379,158 (GRCm39) E283G probably damaging Het
Klk4 T G 7: 43,533,482 (GRCm39) F114V probably benign Het
Lrrc74a A G 12: 86,805,380 (GRCm39) I401V probably damaging Het
Luzp2 T C 7: 54,707,815 (GRCm39) S68P possibly damaging Het
Naip1 T C 13: 100,562,694 (GRCm39) T824A probably benign Het
Nav3 T C 10: 109,659,376 (GRCm39) Q747R possibly damaging Het
Or13p4 T A 4: 118,547,271 (GRCm39) Y126F probably damaging Het
Or1j11 A G 2: 36,311,523 (GRCm39) T38A probably damaging Het
Or4c107 A G 2: 88,789,059 (GRCm39) D83G possibly damaging Het
Or51f1 T C 7: 102,506,169 (GRCm39) I107V possibly damaging Het
Or52h2 T C 7: 103,838,880 (GRCm39) H178R probably damaging Het
Or5b120 A G 19: 13,480,067 (GRCm39) D120G probably damaging Het
Or7g22 A C 9: 19,049,021 (GRCm39) H244P probably damaging Het
Pcdhb11 T C 18: 37,555,978 (GRCm39) I436T possibly damaging Het
Pfdn2 T C 1: 171,184,319 (GRCm39) Y65H probably damaging Het
Polr2h T C 16: 20,537,776 (GRCm39) Y58H probably benign Het
Prrt4 G A 6: 29,176,452 (GRCm39) P291L probably benign Het
Psg29 G T 7: 16,944,437 (GRCm39) V316L possibly damaging Het
Rnf112 T A 11: 61,340,555 (GRCm39) E525V probably damaging Het
Sgms1 T C 19: 32,101,773 (GRCm39) K411R probably benign Het
Sh3tc1 T A 5: 35,864,295 (GRCm39) K631* probably null Het
Syne1 T C 10: 5,393,223 (GRCm39) M48V probably benign Het
Thrb C T 14: 18,011,209 (GRCm38) T226I probably damaging Het
Trim67 A T 8: 125,541,843 (GRCm39) D347V probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn G T 2: 76,565,744 (GRCm39) L19876I probably damaging Het
Vars1 C T 17: 35,220,585 (GRCm39) R56C probably damaging Het
Vmn1r9 A G 6: 57,048,239 (GRCm39) I105V probably benign Het
Vps8 C A 16: 21,279,988 (GRCm39) T313K probably benign Het
Other mutations in Krt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Krt7 APN 15 101,324,966 (GRCm39) unclassified probably benign
IGL01025:Krt7 APN 15 101,321,302 (GRCm39) missense probably benign 0.17
IGL02229:Krt7 APN 15 101,325,497 (GRCm39) missense probably benign 0.09
IGL03366:Krt7 APN 15 101,325,491 (GRCm39) missense possibly damaging 0.87
R0256:Krt7 UTSW 15 101,321,190 (GRCm39) nonsense probably null
R1648:Krt7 UTSW 15 101,310,448 (GRCm39) missense probably damaging 1.00
R1696:Krt7 UTSW 15 101,321,307 (GRCm39) missense probably benign 0.01
R1779:Krt7 UTSW 15 101,321,290 (GRCm39) missense probably damaging 1.00
R1837:Krt7 UTSW 15 101,317,463 (GRCm39) missense probably benign 0.42
R2045:Krt7 UTSW 15 101,321,365 (GRCm39) splice site probably null
R2510:Krt7 UTSW 15 101,310,538 (GRCm39) missense probably benign 0.01
R2511:Krt7 UTSW 15 101,310,538 (GRCm39) missense probably benign 0.01
R4041:Krt7 UTSW 15 101,321,161 (GRCm39) splice site probably null
R4729:Krt7 UTSW 15 101,318,439 (GRCm39) missense probably benign 0.03
R4964:Krt7 UTSW 15 101,311,853 (GRCm39) missense probably damaging 1.00
R5032:Krt7 UTSW 15 101,310,428 (GRCm39) missense probably benign 0.00
R6270:Krt7 UTSW 15 101,317,439 (GRCm39) missense probably damaging 1.00
R7019:Krt7 UTSW 15 101,311,851 (GRCm39) missense probably damaging 1.00
R7645:Krt7 UTSW 15 101,310,524 (GRCm39) missense probably damaging 1.00
R7773:Krt7 UTSW 15 101,311,913 (GRCm39) missense possibly damaging 0.49
R7844:Krt7 UTSW 15 101,310,515 (GRCm39) missense possibly damaging 0.80
R9473:Krt7 UTSW 15 101,318,409 (GRCm39) missense probably damaging 0.99
X0026:Krt7 UTSW 15 101,310,653 (GRCm39) missense probably damaging 0.98
Z1177:Krt7 UTSW 15 101,321,348 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGACAACTTGCCTGAGG -3'
(R):5'- TTGATGAGCCCAGGCCATAGAG -3'

Sequencing Primer
(F):5'- ACAACTTGCCTGAGGTGTGG -3'
(R):5'- CATAGAGGCTCCTGCTGC -3'
Posted On 2018-02-16