Incidental Mutation 'R4629:Krt1'
ID 349077
Institutional Source Beutler Lab
Gene Symbol Krt1
Ensembl Gene ENSMUSG00000046834
Gene Name keratin 1
Synonyms Krt2-1, Krt-2.1
MMRRC Submission 041894-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.454) question?
Stock # R4629 (G1)
Quality Score 221
Status Not validated
Chromosome 15
Chromosomal Location 101753861-101759221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101754622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 543 (G543S)
Ref Sequence ENSEMBL: ENSMUSP00000023790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023790]
AlphaFold P04104
Predicted Effect unknown
Transcript: ENSMUST00000023790
AA Change: G543S
SMART Domains Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: G543S

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 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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 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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,108,419 (GRCm39) noncoding transcript Het
Abca6 T C 11: 110,121,375 (GRCm39) probably null Het
Adam22 A G 5: 8,282,663 (GRCm39) S111P possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alg10b C T 15: 90,111,948 (GRCm39) A264V probably benign Het
Angpt1 T A 15: 42,301,796 (GRCm39) Y404F probably benign Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Asic5 T A 3: 81,913,811 (GRCm39) Y162N probably damaging Het
Cacna2d2 A T 9: 107,404,521 (GRCm39) E1104V probably damaging Het
Cad G A 5: 31,227,639 (GRCm39) V1263I probably damaging Het
Cdc20 T C 4: 118,290,761 (GRCm39) E413G probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cubn T A 2: 13,318,790 (GRCm39) probably null Het
Cx3cr1 T C 9: 119,880,730 (GRCm39) N224S probably damaging Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fez2 C T 17: 78,710,183 (GRCm39) S202N probably benign Het
Fras1 A G 5: 96,924,593 (GRCm39) N3678S probably benign Het
Glyr1 A G 16: 4,854,907 (GRCm39) V57A possibly damaging Het
Gm5617 T A 9: 48,407,187 (GRCm39) L107Q possibly damaging Het
Gpnmb A G 6: 49,027,994 (GRCm39) D401G possibly damaging Het
Gtpbp6 C A 5: 110,254,774 (GRCm39) V100L possibly damaging Het
Gucy1a1 A G 3: 82,004,931 (GRCm39) V618A probably damaging Het
H6pd A T 4: 150,080,803 (GRCm39) M14K probably benign Het
Hectd4 A G 5: 121,435,266 (GRCm39) M993V probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Lama1 A G 17: 68,112,355 (GRCm39) probably null Het
Lgr6 T C 1: 135,032,670 (GRCm39) Y70C probably damaging Het
Lipg T A 18: 75,081,107 (GRCm39) K325* probably null Het
Lrrc43 T C 5: 123,637,583 (GRCm39) L250P probably damaging Het
Lyz1 C T 10: 117,127,041 (GRCm39) R65H probably benign Het
Marchf10 T A 11: 105,280,664 (GRCm39) L540F probably benign Het
Maz G T 7: 126,624,519 (GRCm39) H334N possibly damaging Het
Myh1 A G 11: 67,100,119 (GRCm39) K646R probably benign Het
Nf2 A T 11: 4,798,915 (GRCm39) V24E probably damaging Het
Nup210l T C 3: 90,075,182 (GRCm39) S831P probably benign Het
Nup210l C T 3: 90,098,181 (GRCm39) R1378* probably null Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Palb2 A C 7: 121,727,189 (GRCm39) I227S possibly damaging Het
Pate3 A T 9: 35,557,453 (GRCm39) C68S probably damaging Het
Pcdha12 T A 18: 37,154,926 (GRCm39) N548K probably damaging Het
Prdm10 C T 9: 31,248,612 (GRCm39) Q345* probably null Het
Ptx4 A T 17: 25,341,737 (GRCm39) N71Y probably damaging Het
Rab42 C T 4: 132,030,548 (GRCm39) R34Q probably benign Het
Rergl A G 6: 139,478,850 (GRCm39) V8A probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rpia A G 6: 70,743,578 (GRCm39) M291T possibly damaging Het
Rplp0 G A 5: 115,699,482 (GRCm39) probably null Het
Rrp12 A T 19: 41,871,955 (GRCm39) I443N probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Saxo1 T C 4: 86,406,064 (GRCm39) Y45C probably damaging Het
Sec24a A T 11: 51,612,640 (GRCm39) probably null Het
Setdb2 A G 14: 59,646,808 (GRCm39) V585A probably benign Het
Sik1 T C 17: 32,068,581 (GRCm39) E347G probably benign Het
Srbd1 T C 17: 86,428,100 (GRCm39) T378A probably damaging Het
Tacr1 A G 6: 82,380,861 (GRCm39) T91A probably benign Het
Tas2r135 T A 6: 42,383,160 (GRCm39) M233K probably benign Het
Tfg A T 16: 56,533,039 (GRCm39) M40K probably damaging Het
Tmem35b C T 4: 127,022,796 (GRCm39) P133S probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Trpv3 A T 11: 73,172,615 (GRCm39) K253N probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc13a A G 8: 72,106,097 (GRCm39) M669T possibly damaging Het
Vmn1r61 T A 7: 5,614,249 (GRCm39) I22F probably benign Het
Vmn2r26 A T 6: 124,038,150 (GRCm39) Q575L possibly damaging Het
Vmn2r81 A T 10: 79,103,276 (GRCm39) E156D probably damaging Het
Vwa3a T A 7: 120,392,598 (GRCm39) N812K probably benign Het
Wasl T C 6: 24,637,680 (GRCm39) R71G probably damaging Het
Wdfy4 A T 14: 32,824,515 (GRCm39) N1301K probably damaging Het
Zfp827 G A 8: 79,787,011 (GRCm39) R59Q probably damaging Het
Zfp87 A G 13: 74,520,512 (GRCm39) C189R probably 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
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
R7706: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'- AACTGCCAGAGGACTTAACG -3'
(R):5'- GATGTCTGGAGAGTGCACTC -3'

Sequencing Primer
(F):5'- GAGGACTTAACGCCACCG -3'
(R):5'- AGAGTGCACTCCCAACGTGAG -3'
Posted On 2015-10-08