Incidental Mutation 'R7706:Krt1'
ID 594304
Institutional Source Beutler Lab
Gene Symbol Krt1
Ensembl Gene ENSMUSG00000046834
Gene Name keratin 1
Synonyms Krt2-1, Krt-2.1
MMRRC Submission 045767-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.454) question?
Stock # R7706 (G1)
Quality Score 214.458
Status Not validated
Chromosome 15
Chromosomal Location 101753861-101759221 bp(-) (GRCm39)
Type of Mutation small deletion (10 aa in frame mutation)
DNA Base Change (assembly) AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC to AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC at 101758813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023790]
AlphaFold P04104
Predicted Effect probably benign
Transcript: ENSMUST00000023790
SMART Domains Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834

DomainStartEndE-ValueType
Pfam:Keratin_2_head 19 184 7.5e-35 PFAM
Filament 187 500 1.02e-154 SMART
Pfam:Keratin_2_tail 501 633 7.6e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231047
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (52/53)
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 spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a dominant mutation exhibit significant blistering and skin erosions at birth and develop severe hyperkeratosis as adults. Mice homozygous for the dominant mutation also exhibit blistering, and die before weaning age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik G A 17: 46,044,583 (GRCm39) T46I unknown Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Atxn7l2 T C 3: 108,114,719 (GRCm39) D109G probably damaging Het
B4galnt3 C A 6: 120,195,913 (GRCm39) V305L probably benign Het
C9 T A 15: 6,488,402 (GRCm39) N85K probably benign Het
Cacna1g T C 11: 94,305,867 (GRCm39) I1941V probably benign Het
Capn15 A G 17: 26,183,125 (GRCm39) V518A probably benign Het
Chst10 A T 1: 38,905,106 (GRCm39) Y200N probably damaging Het
Ciao3 T C 17: 26,001,226 (GRCm39) *493Q probably null Het
Cir1 A G 2: 73,142,823 (GRCm39) S4P probably damaging Het
Cish G A 9: 107,177,840 (GRCm39) R172Q probably benign Het
Cnot10 A T 9: 114,422,506 (GRCm39) N693K probably damaging Het
Ddx6 A G 9: 44,538,939 (GRCm39) D249G probably damaging Het
Dennd6b T C 15: 89,069,447 (GRCm39) D528G probably benign Het
Dmtf1 T A 5: 9,174,489 (GRCm39) T484S possibly damaging Het
Dnaaf5 T C 5: 139,138,596 (GRCm39) V259A probably damaging Het
Dzip1l A T 9: 99,519,589 (GRCm39) S39C probably damaging Het
Efcab8 T A 2: 153,623,695 (GRCm39) M60K Het
Eml2 T A 7: 18,920,035 (GRCm39) V113D possibly damaging Het
Fnip1 A T 11: 54,406,325 (GRCm39) I1141F probably benign Het
Gm7298 T A 6: 121,712,570 (GRCm39) S127R probably damaging Het
Hcn2 G A 10: 79,570,017 (GRCm39) R622Q possibly damaging Het
Ift172 C T 5: 31,423,723 (GRCm39) W746* probably null Het
Irs1 A G 1: 82,265,412 (GRCm39) Y935H probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Klhl20 T C 1: 160,936,827 (GRCm39) I183V probably benign Het
Lalba T C 15: 98,379,474 (GRCm39) D103G probably damaging Het
Lpin3 T C 2: 160,747,210 (GRCm39) L822P probably damaging Het
Lrrc38 G A 4: 143,076,845 (GRCm39) C36Y probably damaging Het
Ly6e T C 15: 74,830,183 (GRCm39) S46P possibly damaging Het
Nav2 T C 7: 49,244,067 (GRCm39) I2098T probably benign Het
Nipbl T C 15: 8,381,010 (GRCm39) E594G probably benign Het
Or52k2 T A 7: 102,253,853 (GRCm39) H97Q probably benign Het
Parn T C 16: 13,425,117 (GRCm39) D432G probably damaging Het
Pcdh20 A G 14: 88,704,793 (GRCm39) S836P probably damaging Het
Pcmtd2 C T 2: 181,496,868 (GRCm39) R282C probably damaging Het
Ppp2r3c A G 12: 55,328,490 (GRCm39) I425T probably benign Het
Samm50 T A 15: 84,085,081 (GRCm39) probably null Het
Sars1 C T 3: 108,338,780 (GRCm39) probably null Het
Senp8 A G 9: 59,645,121 (GRCm39) Y12H possibly damaging Het
Slc13a4 T C 6: 35,247,290 (GRCm39) I577V possibly damaging Het
Srr T G 11: 74,803,961 (GRCm39) probably null Het
Steap2 T A 5: 5,732,967 (GRCm39) N19I possibly damaging Het
Sucla2 A G 14: 73,806,433 (GRCm39) Y168C probably damaging Het
Tha1 T C 11: 117,760,281 (GRCm39) Q275R probably damaging Het
Trim56 T C 5: 137,143,510 (GRCm39) N2S probably benign Het
Tubgcp6 T A 15: 88,988,426 (GRCm39) H849L probably benign Het
Uevld A G 7: 46,597,775 (GRCm39) I72T possibly damaging Het
Ybx1 A G 4: 119,136,164 (GRCm39) *323Q probably null Het
Zfp354b C T 11: 50,819,390 (GRCm39) probably null Het
Zfp36l2 A T 17: 84,494,346 (GRCm39) L97Q probably benign Het
Zfp729a T A 13: 67,771,612 (GRCm39) R78S possibly damaging Het
Other mutations in Krt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Krt1 APN 15 101,756,628 (GRCm39) missense probably damaging 1.00
IGL01478:Krt1 APN 15 101,754,721 (GRCm39) splice site probably benign
IGL01919:Krt1 APN 15 101,754,811 (GRCm39) missense unknown
IGL01970:Krt1 APN 15 101,755,299 (GRCm39) missense possibly damaging 0.95
IGL02207:Krt1 APN 15 101,757,051 (GRCm39) missense possibly damaging 0.94
IGL02643:Krt1 APN 15 101,755,479 (GRCm39) missense probably benign 0.26
R0445:Krt1 UTSW 15 101,756,056 (GRCm39) missense probably damaging 1.00
R0683:Krt1 UTSW 15 101,758,901 (GRCm39) missense unknown
R1006:Krt1 UTSW 15 101,756,326 (GRCm39) missense possibly damaging 0.96
R1163:Krt1 UTSW 15 101,756,600 (GRCm39) nonsense probably null
R1217:Krt1 UTSW 15 101,757,416 (GRCm39) missense possibly damaging 0.90
R1325:Krt1 UTSW 15 101,756,641 (GRCm39) splice site probably null
R1965:Krt1 UTSW 15 101,757,427 (GRCm39) missense probably benign 0.13
R1966:Krt1 UTSW 15 101,757,427 (GRCm39) missense probably benign 0.13
R2101:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R2302:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R2697:Krt1 UTSW 15 101,755,364 (GRCm39) missense probably damaging 1.00
R3034:Krt1 UTSW 15 101,759,068 (GRCm39) missense unknown
R3079:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R3080:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R3891:Krt1 UTSW 15 101,758,847 (GRCm39) missense unknown
R3892:Krt1 UTSW 15 101,758,847 (GRCm39) missense unknown
R4180:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R4305:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R4334:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R4597:Krt1 UTSW 15 101,756,063 (GRCm39) missense possibly damaging 0.90
R4625:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4626:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4628:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4629:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4630:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4631:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4632:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4633:Krt1 UTSW 15 101,754,622 (GRCm39) missense unknown
R4893:Krt1 UTSW 15 101,758,555 (GRCm39) missense probably damaging 1.00
R4948:Krt1 UTSW 15 101,754,376 (GRCm39) missense unknown
R5193:Krt1 UTSW 15 101,754,357 (GRCm39) missense unknown
R5254:Krt1 UTSW 15 101,754,803 (GRCm39) missense unknown
R5448:Krt1 UTSW 15 101,757,464 (GRCm39) nonsense probably null
R5494:Krt1 UTSW 15 101,759,149 (GRCm39) missense unknown
R5567:Krt1 UTSW 15 101,755,340 (GRCm39) missense probably benign 0.12
R5570:Krt1 UTSW 15 101,755,340 (GRCm39) missense probably benign 0.12
R5869:Krt1 UTSW 15 101,758,566 (GRCm39) missense probably damaging 1.00
R6200:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R6224:Krt1 UTSW 15 101,758,702 (GRCm39) missense possibly damaging 0.92
R6326:Krt1 UTSW 15 101,758,684 (GRCm39) missense probably damaging 1.00
R6517:Krt1 UTSW 15 101,758,702 (GRCm39) missense possibly damaging 0.92
R6525:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R6918:Krt1 UTSW 15 101,758,612 (GRCm39) missense probably damaging 1.00
R7018:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R7040:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R7110:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R7296:Krt1 UTSW 15 101,759,064 (GRCm39) missense unknown
R7368:Krt1 UTSW 15 101,755,307 (GRCm39) missense probably damaging 1.00
R7549:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R8416:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R8418:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R8842:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R8914:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R8964:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R8979:Krt1 UTSW 15 101,755,340 (GRCm39) missense probably benign 0.12
R8988:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R9134:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R9248:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R9380:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R9404:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R9430:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R9638:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
R9768:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
RF003:Krt1 UTSW 15 101,758,813 (GRCm39) small deletion probably benign
X0067:Krt1 UTSW 15 101,756,190 (GRCm39) critical splice donor site probably null
Z1177:Krt1 UTSW 15 101,758,970 (GRCm39) missense unknown
Z1177:Krt1 UTSW 15 101,754,451 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAACGTTGAGGGGTTGCAG -3'
(R):5'- AGATCCACCAGCAGCTCTATG -3'

Sequencing Primer
(F):5'- CAGAAGGCTTTGGTTGATGGTCAC -3'
(R):5'- AGATTTTCAGGAGGAGGCTTC -3'
Posted On 2019-11-12