Incidental Mutation 'R7773:Krt7'
ID 598733
Institutional Source Beutler Lab
Gene Symbol Krt7
Ensembl Gene ENSMUSG00000023039
Gene Name keratin 7
Synonyms K7, D15Wsu77e, Krt2-7, Cytokeratin 7
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101310284-101325687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 101311913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 124 (K124Q)
Ref Sequence ENSEMBL: ENSMUSP00000069900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068904] [ENSMUST00000147662]
AlphaFold Q9DCV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000068904
AA Change: K124Q

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039
AA Change: K124Q

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 possibly damaging
Transcript: ENSMUST00000147662
AA Change: K13Q

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117046
Gene: ENSMUSG00000023039
AA Change: K13Q

DomainStartEndE-ValueType
Pfam:Filament 1 115 4e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T probably damaging 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
R6023:Krt7 UTSW 15 101,310,278 (GRCm39) intron probably benign
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
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'- CAACTCCATGGCTTACACTTG -3'
(R):5'- TGGGATCCTCCAAAAGGCAC -3'

Sequencing Primer
(F):5'- GGCTTACACTTGAAATAGGGTCC -3'
(R):5'- GGCACCAGGGACATTACTTATTC -3'
Posted On 2019-11-26