Incidental Mutation 'R6523:Krt14'
ID 521524
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
MMRRC Submission 044649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6523 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100093988-100098336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100095923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 212 (T212A)
Ref Sequence ENSEMBL: ENSMUSP00000007272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007272]
AlphaFold Q61781
Predicted Effect possibly damaging
Transcript: ENSMUST00000007272
AA Change: T212A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: T212A

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: 93.3%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,160,120 (GRCm39) probably null Het
Alg2 A T 4: 47,472,071 (GRCm39) S246T possibly damaging Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Arid4a A G 12: 71,114,115 (GRCm39) probably null Het
AU040320 G A 4: 126,762,553 (GRCm39) probably null Het
B430306N03Rik A G 17: 48,626,193 (GRCm39) T129A possibly damaging Het
Blvrb C A 7: 27,165,142 (GRCm39) probably null Het
Ccdc175 T C 12: 72,191,565 (GRCm39) N337S probably benign Het
Ccdc28b A C 4: 129,514,780 (GRCm39) F110V probably damaging Het
Cd200 A G 16: 45,220,633 (GRCm39) Y16H probably benign Het
Cfh T G 1: 140,029,445 (GRCm39) E950A possibly damaging Het
Clec3a A T 8: 115,152,345 (GRCm39) Y117F probably damaging Het
CN725425 A G 15: 91,115,784 (GRCm39) S9G probably benign Het
Coasy T A 11: 100,976,944 (GRCm39) W535R probably damaging Het
Cox4i1 T A 8: 121,399,480 (GRCm39) S30R probably benign Het
Csnk1a1 G A 18: 61,688,829 (GRCm39) S3N probably benign Het
Dcst2 C G 3: 89,280,808 (GRCm39) L669V probably benign Het
Dnah14 A G 1: 181,471,186 (GRCm39) I1346V probably benign Het
Fbxw24 G A 9: 109,434,048 (GRCm39) R421* probably null Het
Fstl5 G A 3: 76,443,641 (GRCm39) V329I probably benign Het
Gli3 T C 13: 15,888,235 (GRCm39) probably null Het
Gna11 A T 10: 81,380,688 (GRCm39) I25N probably damaging Het
Greb1 C T 12: 16,734,374 (GRCm39) V1539I possibly damaging Het
Hipk3 T A 2: 104,269,753 (GRCm39) T479S possibly damaging Het
Hspa1b A G 17: 35,176,167 (GRCm39) I606T probably benign Het
Idnk T A 13: 58,311,457 (GRCm39) F141L probably damaging Het
Ifit3 A G 19: 34,565,555 (GRCm39) N367S probably benign Het
Kcnn1 A T 8: 71,299,169 (GRCm39) D448E possibly damaging Het
Ldlr G A 9: 21,648,549 (GRCm39) C285Y probably damaging Het
Mark3 G A 12: 111,593,669 (GRCm39) V234I probably damaging Het
Meikin T A 11: 54,289,327 (GRCm39) Y233* probably null Het
Mtcl2 G A 2: 156,902,263 (GRCm39) Q251* probably null Het
Muc20 T C 16: 32,613,820 (GRCm39) D519G possibly damaging Het
Nalcn T A 14: 123,555,255 (GRCm39) H876L probably benign Het
Ncaph A T 2: 126,947,809 (GRCm39) I698K probably damaging Het
Nipal1 A T 5: 72,824,951 (GRCm39) I215F probably damaging Het
Nrde2 A T 12: 100,100,664 (GRCm39) D607E possibly damaging Het
Nt5dc2 T C 14: 30,857,662 (GRCm39) F217S probably damaging Het
Ntsr2 T A 12: 16,706,697 (GRCm39) S156T probably benign Het
Or13c9 A T 4: 52,935,500 (GRCm39) I261N probably damaging Het
Or5b110-ps1 A C 19: 13,259,728 (GRCm39) D231E probably benign Het
Or5p4 A C 7: 107,680,762 (GRCm39) T254P probably benign Het
Pfas A T 11: 68,881,283 (GRCm39) I1028K probably benign Het
Pnpla5 C A 15: 83,999,912 (GRCm39) R329L possibly damaging Het
Pramel30 T C 4: 144,058,218 (GRCm39) V275A probably benign Het
Rhot2 A G 17: 26,058,394 (GRCm39) V393A possibly damaging Het
Rigi T A 4: 40,205,947 (GRCm39) T882S probably benign Het
Rnase9 T A 14: 51,276,684 (GRCm39) Y98F possibly damaging Het
Sacs C A 14: 61,440,410 (GRCm39) L819I probably damaging Het
Sall3 C T 18: 81,016,403 (GRCm39) M508I possibly damaging Het
Scube3 G A 17: 28,381,362 (GRCm39) C301Y probably damaging Het
Sgo2b G T 8: 64,380,538 (GRCm39) H765N probably benign Het
Sh3gl1 A T 17: 56,324,617 (GRCm39) Y344N possibly damaging Het
Slc15a2 A G 16: 36,572,683 (GRCm39) V635A probably benign Het
Slc1a4 T A 11: 20,282,114 (GRCm39) Y40F probably damaging Het
Slc4a10 A T 2: 62,117,305 (GRCm39) K755* probably null Het
Slco1a5 C T 6: 142,212,121 (GRCm39) G38R probably damaging Het
Snx25 T A 8: 46,508,892 (GRCm39) D564V probably damaging Het
Spon1 T A 7: 113,486,018 (GRCm39) D189E probably benign Het
Sptbn5 T C 2: 119,896,095 (GRCm39) probably null Het
Ssbp2 A G 13: 91,841,170 (GRCm39) I317V probably benign Het
Stil AAGATTTCCAG A 4: 114,889,911 (GRCm39) probably null Het
Strn3 A T 12: 51,689,881 (GRCm39) probably null Het
Tcaf2 A T 6: 42,619,953 (GRCm39) F25I probably benign Het
Themis C T 10: 28,657,894 (GRCm39) T154I possibly damaging Het
Ttn T C 2: 76,626,390 (GRCm39) R13176G probably damaging Het
Utp4 G A 8: 107,625,095 (GRCm39) V125M probably damaging Het
Vmn1r119 T A 7: 20,745,777 (GRCm39) M202L possibly damaging Het
Zfp292 G C 4: 34,816,301 (GRCm39) F329L probably benign Het
Zfp541 C T 7: 15,829,445 (GRCm39) P1281L probably damaging Het
Zfp616 A T 11: 73,973,968 (GRCm39) Q79L possibly damaging 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
R6622:Krt14 UTSW 11 100,094,786 (GRCm39) missense probably benign 0.00
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'- CATCCACCCTCTTAAGCTGG -3'
(R):5'- AAGCTGGAAGTGCCTCTTTC -3'

Sequencing Primer
(F):5'- AAGCTGGCTTTTCCACCTAG -3'
(R):5'- CTCTTTCAGGCACATGACTAAGGG -3'
Posted On 2018-06-06