Incidental Mutation 'IGL01759:Krt14'
ID153546
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt14
Ensembl Gene ENSMUSG00000045545
Gene Namekeratin 14
SynonymsKrt1-14, K14, Cytokeratin 14, Krt-1.14, epidermolysis bullosa simplex, Dowling-Meara, Koebner
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01759
Quality Score
Status
Chromosome11
Chromosomal Location100203162-100207548 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 100204416 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007272]
Predicted Effect probably benign
Transcript: ENSMUST00000007272
SMART Domains Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545

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
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,835,799 D150E probably damaging Het
Akr1c14 T A 13: 4,081,139 I277N probably damaging Het
Ap1b1 C T 11: 5,019,433 T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 V313L probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Car2 G A 3: 14,895,628 probably null Het
Cdh17 T A 4: 11,771,262 probably benign Het
Cep295 A G 9: 15,323,559 probably null Het
Cep97 T C 16: 55,930,573 K27E probably damaging Het
Cops5 A T 1: 10,027,249 N258K probably damaging Het
Dchs1 T A 7: 105,755,302 T2678S probably benign Het
Dnah10 T A 5: 124,755,786 F861Y probably benign Het
Dock10 T C 1: 80,526,273 E1777G probably damaging Het
Dock5 G A 14: 67,881,259 Q23* probably null Het
Ermp1 T C 19: 29,615,836 K752R probably benign Het
Fam160a1 A C 3: 85,688,447 I377S probably damaging Het
Gjd2 T A 2: 114,011,106 I297L probably benign Het
Gm1123 T C 9: 99,023,254 M68V probably benign Het
Gm28372 C T 2: 130,406,898 R59W probably damaging Het
Gm9912 A C 3: 149,185,438 F20V unknown Het
Gpat2 T C 2: 127,430,896 F176S possibly damaging Het
Gpr150 T C 13: 76,055,665 H387R possibly damaging Het
Gpr20 T A 15: 73,696,420 D40V probably damaging Het
Jakmip3 A T 7: 139,020,904 Q331L probably damaging Het
Kif5b A T 18: 6,211,019 probably benign Het
Kif5b A G 18: 6,225,647 V179A probably damaging Het
L3mbtl3 A G 10: 26,331,900 F307S unknown Het
Laptm4a T C 12: 8,934,687 probably benign Het
Marveld3 T C 8: 109,948,087 S366G possibly damaging Het
Mga C A 2: 119,951,195 T2234K possibly damaging Het
Mkrn2os T C 6: 115,592,331 N54S probably benign Het
Mras T C 9: 99,411,495 I31V probably damaging Het
Myh1 A G 11: 67,219,906 D1518G probably damaging Het
Myoz2 A T 3: 123,013,781 Y127N possibly damaging Het
Nhlrc1 C A 13: 47,013,962 W273L probably benign Het
Nol9 C T 4: 152,046,043 probably benign Het
Nrxn2 T C 19: 6,509,929 V1206A probably damaging Het
Olfr180 A T 16: 58,915,928 F238I probably damaging Het
Olfr523 T C 7: 140,176,534 I138T probably benign Het
Olfr694 T C 7: 106,689,333 T133A probably benign Het
Olfr774 T A 10: 129,239,072 F308I probably benign Het
Olfr971 T A 9: 39,839,611 M59K probably damaging Het
Pappa T C 4: 65,205,158 probably null Het
Pfkl A G 10: 78,000,731 S151P probably damaging Het
Pgbd5 C T 8: 124,384,379 G191D probably damaging Het
Pikfyve T C 1: 65,253,353 V1276A probably benign Het
Pla2g4c T A 7: 13,348,316 Y486N probably damaging Het
Rasal2 C A 1: 157,175,932 V386L probably benign Het
S1pr3 G A 13: 51,419,512 R243Q probably damaging Het
Slc44a4 A G 17: 34,921,243 D208G probably benign Het
Slc6a4 T C 11: 77,013,288 S190P probably damaging Het
Snapc5 A T 9: 64,180,497 probably null Het
Tbc1d14 C A 5: 36,571,569 R151L probably damaging Het
Tecpr2 T A 12: 110,931,392 probably benign Het
Tmem219 G A 7: 126,897,138 P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 R51G probably null Het
Ugp2 T C 11: 21,353,447 K53E probably benign Het
Vmn1r214 T C 13: 23,034,492 I52T probably benign Het
Vmn2r124 C T 17: 18,064,068 T457I probably benign Het
Vps13b A G 15: 35,878,789 E2978G probably damaging Het
Zfr A G 15: 12,159,655 D679G probably damaging Het
Zhx3 T C 2: 160,780,714 N511S probably damaging Het
Other mutations in Krt14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0449:Krt14 UTSW 11 100207395 missense unknown
R0848:Krt14 UTSW 11 100204264 missense probably damaging 1.00
R1302:Krt14 UTSW 11 100203347 missense probably damaging 1.00
R2024:Krt14 UTSW 11 100207218 missense unknown
R2088:Krt14 UTSW 11 100204123 missense possibly damaging 0.81
R2161:Krt14 UTSW 11 100207113 missense unknown
R3878:Krt14 UTSW 11 100207089 missense possibly damaging 0.56
R5015:Krt14 UTSW 11 100207206 nonsense probably null
R5314:Krt14 UTSW 11 100204700 missense probably damaging 1.00
R5474:Krt14 UTSW 11 100204745 missense probably damaging 1.00
R5698:Krt14 UTSW 11 100205625 missense probably benign 0.44
R5707:Krt14 UTSW 11 100204758 missense possibly damaging 0.77
R6072:Krt14 UTSW 11 100207166 missense unknown
R6523:Krt14 UTSW 11 100205097 missense possibly damaging 0.81
R6622:Krt14 UTSW 11 100203960 missense probably benign 0.00
R7082:Krt14 UTSW 11 100203341 missense possibly damaging 0.95
R7239:Krt14 UTSW 11 100204255 missense probably benign 0.03
R7350:Krt14 UTSW 11 100205100 nonsense probably null
X0020:Krt14 UTSW 11 100205106 critical splice acceptor site probably null
Posted On2014-02-04