Incidental Mutation 'R1965:Krt1'
ID 218319
Institutional Source Beutler Lab
Gene Symbol Krt1
Ensembl Gene ENSMUSG00000046834
Gene Name keratin 1
Synonyms Krt2-1, Krt-2.1
MMRRC Submission 039978-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.454) question?
Stock # R1965 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101753861-101759221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101757427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 261 (D261G)
Ref Sequence ENSEMBL: ENSMUSP00000023790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023790]
AlphaFold P04104
Predicted Effect probably benign
Transcript: ENSMUST00000023790
AA Change: D261G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023790
Gene: ENSMUSG00000046834
AA Change: D261G

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T G 4: 40,175,730 (GRCm39) L157R probably damaging Het
Acot11 A T 4: 106,606,550 (GRCm39) L513Q probably damaging Het
Amd1 A G 10: 40,170,755 (GRCm39) I52T probably benign Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arel1 T A 12: 84,987,173 (GRCm39) probably null Het
Arg1 T A 10: 24,792,762 (GRCm39) probably null Het
Atf1 A T 15: 100,152,052 (GRCm39) M135L probably benign Het
Atf2 T C 2: 73,681,242 (GRCm39) E77G possibly damaging Het
Axin1 G T 17: 26,403,199 (GRCm39) A394S probably damaging Het
Axin1 A T 17: 26,409,202 (GRCm39) Q734L probably damaging Het
Brd8 G C 18: 34,735,819 (GRCm39) A886G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Celf3 T C 3: 94,392,634 (GRCm39) V35A probably damaging Het
Cfap299 T A 5: 98,494,093 (GRCm39) D32E probably damaging Het
Ckap2 T C 8: 22,665,803 (GRCm39) T415A possibly damaging Het
Crybg3 T C 16: 59,323,600 (GRCm39) Y1066C probably damaging Het
Csmd3 T C 15: 47,713,144 (GRCm39) H1506R probably benign Het
Dnah10 A G 5: 124,852,267 (GRCm39) D1808G probably damaging Het
Dsc3 C T 18: 20,113,729 (GRCm39) G398R probably damaging Het
Emc2 A G 15: 43,390,863 (GRCm39) Q293R probably damaging Het
Evc2 A G 5: 37,520,876 (GRCm39) N251D possibly damaging Het
Fam151a A T 4: 106,591,112 (GRCm39) probably benign Het
Fbxw16 T A 9: 109,270,289 (GRCm39) I151F probably damaging Het
Fmnl2 A G 2: 53,004,880 (GRCm39) D658G probably damaging Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Foxc2 T A 8: 121,843,413 (GRCm39) S20R probably damaging Het
Fpr-rs6 C T 17: 20,402,918 (GRCm39) G148R probably damaging Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Fyb2 A T 4: 104,770,846 (GRCm39) I54F probably benign Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gldc G A 19: 30,114,513 (GRCm39) R466* probably null Het
Gm12695 T A 4: 96,651,082 (GRCm39) S124C probably benign Het
Gm4846 A T 1: 166,314,533 (GRCm39) I370N possibly damaging Het
Gsdmc3 T C 15: 63,730,296 (GRCm39) T423A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnmb3 T C 3: 32,526,492 (GRCm39) Y233C probably damaging Het
Kidins220 A G 12: 25,044,905 (GRCm39) D191G probably damaging Het
Kmt2a A G 9: 44,732,757 (GRCm39) probably benign Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Myo1f C T 17: 33,817,146 (GRCm39) R730* probably null Het
Ncoa7 C A 10: 30,530,426 (GRCm39) E30* probably null Het
Neurod4 T A 10: 130,106,918 (GRCm39) K119* probably null Het
Npy5r T C 8: 67,133,929 (GRCm39) D288G probably benign Het
Nr3c2 A T 8: 77,636,092 (GRCm39) I398L probably damaging Het
Or10a5 T C 7: 106,635,565 (GRCm39) S68P probably damaging Het
Or12j4 C A 7: 140,046,574 (GRCm39) F153L probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or4k35 T C 2: 111,099,938 (GRCm39) Y258C probably damaging Het
Or51v8 A T 7: 103,320,103 (GRCm39) I45N probably damaging Het
Or5g25 T C 2: 85,478,090 (GRCm39) T192A possibly damaging Het
Or5w8 A G 2: 87,687,759 (GRCm39) K80R probably benign Het
Or9m1b A G 2: 87,836,648 (GRCm39) F149S probably damaging Het
P3r3urf G A 4: 116,031,376 (GRCm39) C82Y probably damaging Het
Pcf11 A T 7: 92,310,809 (GRCm39) M393K probably benign Het
Pck2 T C 14: 55,779,964 (GRCm39) V71A probably benign Het
Pdzd8 G T 19: 59,288,554 (GRCm39) L949I probably benign Het
Pdzrn4 G A 15: 92,644,190 (GRCm39) probably null Het
Phospho1 A G 11: 95,721,705 (GRCm39) N125S probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Ppp1r1b A G 11: 98,246,189 (GRCm39) E57G probably damaging Het
Prtg T G 9: 72,755,604 (GRCm39) S269A probably benign Het
Rbbp5 T A 1: 132,422,035 (GRCm39) S312T probably damaging Het
Rbm11 T A 16: 75,395,656 (GRCm39) probably null Het
Retreg1 A G 15: 25,970,250 (GRCm39) T139A probably damaging Het
Riok3 T A 18: 12,270,019 (GRCm39) H120Q probably damaging Het
Rln1 A T 19: 29,311,995 (GRCm39) M1K probably null Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Sccpdh C T 1: 179,511,879 (GRCm39) P117L probably damaging Het
Serac1 T C 17: 6,099,274 (GRCm39) K506E possibly damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Slc1a2 T A 2: 102,570,245 (GRCm39) N174K probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Slc46a2 T A 4: 59,914,249 (GRCm39) S225C probably damaging Het
Smarcc2 G A 10: 128,310,627 (GRCm39) E419K probably damaging Het
Stkld1 T A 2: 26,836,744 (GRCm39) probably null Het
Szt2 A G 4: 118,241,162 (GRCm39) M1704T probably benign Het
Tasor T G 14: 27,164,511 (GRCm39) C272W probably damaging Het
Tfcp2l1 C T 1: 118,580,653 (GRCm39) Q116* probably null Het
Timm44 A G 8: 4,310,603 (GRCm39) M383T possibly damaging Het
Tnpo2 G A 8: 85,771,946 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Wdfy3 A G 5: 102,099,178 (GRCm39) L290P probably damaging Het
Wdr59 A G 8: 112,177,709 (GRCm39) F898L probably damaging Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp879 A T 11: 50,724,355 (GRCm39) C234S 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
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
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'- TTAATGCCCAATTGATTTGCCC -3'
(R):5'- TTGCTCAGTGGCCTTTAGAC -3'

Sequencing Primer
(F):5'- CAATTGATTTGCCCCTAACTGAGG -3'
(R):5'- TCCTGCACTTGAGGTAACAG -3'
Posted On 2014-08-01