Incidental Mutation 'R6622:Krt14'
ID 524550
Institutional Source Beutler Lab
Gene Symbol Krt14
Ensembl Gene ENSMUSG00000045545
Gene Name keratin 14
Synonyms Krt-1.14, K14, Krt1-14, epidermolysis bullosa simplex, Dowling-Meara, Koebner, Cytokeratin 14
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100093988-100098336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100094786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 451 (R451S)
Ref Sequence ENSEMBL: ENSMUSP00000007272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007272]
AlphaFold Q61781
Predicted Effect probably benign
Transcript: ENSMUST00000007272
AA Change: R451S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: R451S

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
Filament 120 431 5.67e-176 SMART
low complexity region 433 450 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137265
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A C 5: 81,942,606 (GRCm39) D1412A probably benign Het
Arhgap26 A G 18: 39,032,916 (GRCm39) probably benign Het
Card14 A G 11: 119,224,814 (GRCm39) M614V probably benign Het
Cbx2 A G 11: 118,919,961 (GRCm39) T509A probably damaging Het
Cep135 A G 5: 76,788,815 (GRCm39) D1136G probably benign Het
Cep170 T A 1: 176,583,898 (GRCm39) Q827L probably damaging Het
Clock A T 5: 76,389,801 (GRCm39) I349K probably damaging Het
Cnppd1 A T 1: 75,113,539 (GRCm39) V243E probably damaging Het
Cops3 A G 11: 59,723,960 (GRCm39) F93L probably damaging Het
Cplane1 C A 15: 8,273,706 (GRCm39) A2563D probably damaging Het
Cxxc5 T G 18: 35,992,372 (GRCm39) C258G possibly damaging Het
Cycs G A 6: 50,543,443 (GRCm39) probably benign Het
Cyp2c40 A T 19: 39,790,990 (GRCm39) H280Q probably damaging Het
Cyp4f14 C T 17: 33,133,619 (GRCm39) R79H probably benign Het
Dnajc27 A G 12: 4,153,114 (GRCm39) S197G probably benign Het
Dscam C T 16: 96,446,273 (GRCm39) G1456E probably benign Het
Dst G A 1: 34,218,332 (GRCm39) V1591I probably benign Het
Epha5 A G 5: 84,385,387 (GRCm39) S315P possibly damaging Het
Frmd4a A G 2: 4,610,873 (GRCm39) T1012A probably benign Het
Fxr2 G A 11: 69,532,416 (GRCm39) probably null Het
Hcn4 T A 9: 58,765,010 (GRCm39) V534E unknown Het
Hrh4 A G 18: 13,155,454 (GRCm39) Y331C probably damaging Het
Insyn1 A G 9: 58,406,533 (GRCm39) I148V probably benign Het
Kif16b T A 2: 142,554,362 (GRCm39) H812L probably benign Het
Man2b1 A G 8: 85,811,108 (GRCm39) T80A probably damaging Het
Nedd4l A G 18: 65,307,305 (GRCm39) T383A probably damaging Het
Pcdha9 T A 18: 37,131,707 (GRCm39) L259M possibly damaging Het
Pdgfd T C 9: 6,293,818 (GRCm39) C131R probably damaging Het
Prrc2a C G 17: 35,374,396 (GRCm39) R1418P probably damaging Het
Ptpra G T 2: 30,327,589 (GRCm39) E114D probably damaging Het
Ptprt A T 2: 161,395,760 (GRCm39) C1157S probably damaging Het
Rnf126 A T 10: 79,597,397 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,297,202 (GRCm39) V748A probably damaging Het
Serinc5 T A 13: 92,825,194 (GRCm39) S208T probably benign Het
Sftpb A G 6: 72,282,639 (GRCm39) I74V possibly damaging Het
Slc22a14 A C 9: 118,999,643 (GRCm39) I516S possibly damaging Het
Slco2a1 G A 9: 102,951,704 (GRCm39) C411Y possibly damaging Het
Spata31f1e T A 4: 42,793,111 (GRCm39) L340F probably damaging Het
Tent5a G T 9: 85,208,509 (GRCm39) R105S probably damaging Het
Tet3 G A 6: 83,380,426 (GRCm39) P581S probably benign Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Tnrc6b T A 15: 80,763,385 (GRCm39) W296R probably damaging Het
Trpm1 T A 7: 63,890,343 (GRCm39) L982H probably damaging Het
Ttn C A 2: 76,550,862 (GRCm39) R23183I possibly damaging Het
Tuft1 T A 3: 94,542,726 (GRCm39) Y46F probably damaging Het
Vmn1r167 T A 7: 23,205,014 (GRCm39) M1L probably null Het
Zfp808 A G 13: 62,319,646 (GRCm39) R292G possibly damaging Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Zp2 C T 7: 119,741,136 (GRCm39) M129I probably benign Het
Other mutations in Krt14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Krt14 APN 11 100,095,242 (GRCm39) splice site probably benign
R0449:Krt14 UTSW 11 100,098,221 (GRCm39) missense unknown
R0848:Krt14 UTSW 11 100,095,090 (GRCm39) missense probably damaging 1.00
R1302:Krt14 UTSW 11 100,094,173 (GRCm39) missense probably damaging 1.00
R2024:Krt14 UTSW 11 100,098,044 (GRCm39) missense unknown
R2088:Krt14 UTSW 11 100,094,949 (GRCm39) missense possibly damaging 0.81
R2161:Krt14 UTSW 11 100,097,939 (GRCm39) missense unknown
R3878:Krt14 UTSW 11 100,097,915 (GRCm39) missense possibly damaging 0.56
R5015:Krt14 UTSW 11 100,098,032 (GRCm39) nonsense probably null
R5314:Krt14 UTSW 11 100,095,526 (GRCm39) missense probably damaging 1.00
R5474:Krt14 UTSW 11 100,095,571 (GRCm39) missense probably damaging 1.00
R5698:Krt14 UTSW 11 100,096,451 (GRCm39) missense probably benign 0.44
R5707:Krt14 UTSW 11 100,095,584 (GRCm39) missense possibly damaging 0.77
R6072:Krt14 UTSW 11 100,097,992 (GRCm39) missense unknown
R6523:Krt14 UTSW 11 100,095,923 (GRCm39) missense possibly damaging 0.81
R7082:Krt14 UTSW 11 100,094,167 (GRCm39) missense possibly damaging 0.95
R7239:Krt14 UTSW 11 100,095,081 (GRCm39) missense probably benign 0.03
R7350:Krt14 UTSW 11 100,095,926 (GRCm39) nonsense probably null
R8055:Krt14 UTSW 11 100,095,584 (GRCm39) missense possibly damaging 0.89
R8233:Krt14 UTSW 11 100,094,178 (GRCm39) missense probably damaging 0.99
R9043:Krt14 UTSW 11 100,095,464 (GRCm39) missense possibly damaging 0.79
R9116:Krt14 UTSW 11 100,095,904 (GRCm39) missense probably benign 0.31
R9725:Krt14 UTSW 11 100,097,902 (GRCm39) missense probably damaging 0.99
R9784:Krt14 UTSW 11 100,097,966 (GRCm39) missense unknown
X0020:Krt14 UTSW 11 100,095,932 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AAGGTCAGCAGTCCTAGCTC -3'
(R):5'- CCTGCTGGATGTGAAGACAAG -3'

Sequencing Primer
(F):5'- TCAGCAGTCCTAGCTCTGAGGAG -3'
(R):5'- GAGCAGGAGATCGCCACCTAC -3'
Posted On 2018-06-22