Incidental Mutation 'R5494:Krt1'
ID 432259
Institutional Source Beutler Lab
Gene Symbol Krt1
Ensembl Gene ENSMUSG00000046834
Gene Name keratin 1
Synonyms Krt2-1, Krt-2.1
MMRRC Submission 043055-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.454) question?
Stock # R5494 (G1)
Quality Score 202
Status Not validated
Chromosome 15
Chromosomal Location 101753861-101759221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101759149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 5 (C5Y)
Ref Sequence ENSEMBL: ENSMUSP00000023790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023790]
AlphaFold P04104
Predicted Effect unknown
Transcript: ENSMUST00000023790
AA Change: C5Y
SMART Domains Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: C5Y

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
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,223,165 (GRCm39) E436G probably damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Apob A G 12: 8,061,762 (GRCm39) N3415D probably damaging Het
Asb18 T C 1: 89,882,121 (GRCm39) E139G probably damaging Het
Atrn T C 2: 130,864,995 (GRCm39) L1374P probably damaging Het
Ccdc81 A G 7: 89,526,781 (GRCm39) S410P probably damaging Het
Cep112 A G 11: 108,555,431 (GRCm39) E809G probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Ddn C A 15: 98,704,884 (GRCm39) R82L probably damaging Het
Dgkz A T 2: 91,771,394 (GRCm39) probably null Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Frem1 T C 4: 82,858,990 (GRCm39) *415W probably null Het
Fry A T 5: 150,314,132 (GRCm39) D789V probably damaging Het
Fzr1 C T 10: 81,207,178 (GRCm39) probably null Het
Gemin5 T A 11: 58,021,526 (GRCm39) Y1025F probably damaging Het
Gjb5 C T 4: 127,249,347 (GRCm39) V266M probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Golgb1 T A 16: 36,749,045 (GRCm39) N3056K possibly damaging Het
Gucy1b1 T A 3: 81,947,183 (GRCm39) D342V probably damaging Het
H1f9 T C 11: 94,858,843 (GRCm39) L46S probably benign Het
Hc A T 2: 34,893,551 (GRCm39) probably null Het
Heg1 A G 16: 33,545,804 (GRCm39) D185G probably benign Het
Igf2r A T 17: 12,912,032 (GRCm39) M1865K possibly damaging Het
Il27 A G 7: 126,192,100 (GRCm39) L12P probably damaging Het
Med25 C T 7: 44,535,225 (GRCm39) V170M probably damaging Het
Mgat4a T A 1: 37,493,898 (GRCm39) Y316F probably damaging Het
Oas3 A G 5: 120,899,709 (GRCm39) V725A unknown Het
Or52ac1 C A 7: 104,245,932 (GRCm39) G152V probably damaging Het
Or5w16 T C 2: 87,576,950 (GRCm39) S137P probably damaging Het
Pcdhb17 T C 18: 37,620,300 (GRCm39) S697P probably damaging Het
Plch2 T C 4: 155,075,579 (GRCm39) Y751C probably damaging Het
Rbms2 G T 10: 127,973,560 (GRCm39) T252N probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Scfd1 A G 12: 51,443,522 (GRCm39) probably null Het
Shank3 C T 15: 89,432,441 (GRCm39) T1062M probably damaging Het
Slc28a1 G A 7: 80,817,787 (GRCm39) G552E probably damaging Het
Sntn A G 14: 13,682,214 (GRCm38) R96G probably benign Het
Tas2r102 T C 6: 132,740,106 (GRCm39) V338A probably benign Het
Trim62 A T 4: 128,778,999 (GRCm39) N145Y possibly damaging Het
Tspoap1 C T 11: 87,666,031 (GRCm39) T863I possibly damaging Het
Ubr5 C T 15: 38,019,525 (GRCm39) C739Y possibly damaging Het
Vps13c G A 9: 67,855,428 (GRCm39) V2498I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
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
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'- ACCGCCTCCAAGGTTCATAAG -3'
(R):5'- AAAATCTTGTATGGCTGCAGGC -3'

Sequencing Primer
(F):5'- GCCTCCAAGGTTCATAAGACTCTTAC -3'
(R):5'- AGGCGAGCCAAACCCTTTG -3'
Posted On 2016-10-05