Incidental Mutation 'IGL01949:Krt5'
ID180996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt5
Ensembl Gene ENSMUSG00000061527
Gene Namekeratin 5
SynonymsKrt2-5, Tfip8, 3300001P10Rik, K5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01949
Quality Score
Status
Chromosome15
Chromosomal Location101707070-101712898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101710613 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 278 (M278L)
Ref Sequence ENSEMBL: ENSMUSP00000023709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023709]
Predicted Effect probably benign
Transcript: ENSMUST00000023709
AA Change: M278L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: M278L

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 158 3.6e-44 PFAM
Filament 161 474 1.58e-174 SMART
low complexity region 483 577 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198689
Coding Region Coverage
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 basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,326,106 R1247L probably benign Het
Atp2a3 T A 11: 72,981,897 M757K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
D430042O09Rik G A 7: 125,761,842 W108* probably null Het
Dusp5 T C 19: 53,537,473 I182T probably damaging Het
Fuca1 T A 4: 135,923,109 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hap1 G T 11: 100,348,762 D610E probably damaging Het
Hoxa6 T A 6: 52,206,531 Y178F possibly damaging Het
Ighmbp2 A C 19: 3,265,538 D627E probably benign Het
Itgae T C 11: 73,118,184 I497T probably benign Het
Kbtbd3 A G 9: 4,331,066 D480G possibly damaging Het
Kmt2b A T 7: 30,577,161 probably null Het
Krtap4-9 G A 11: 99,785,565 probably benign Het
Myl12a T C 17: 70,996,714 D56G probably benign Het
Olfr117 T C 17: 37,659,466 Y289C probably damaging Het
Pdgfra C A 5: 75,170,665 H310Q probably damaging Het
Pglyrp2 G T 17: 32,416,106 probably null Het
Polk C T 13: 96,483,538 S718N probably benign Het
Ppip5k1 T A 2: 121,337,860 H687L probably benign Het
Pram1 A T 17: 33,641,335 Q292L probably damaging Het
Prodh2 A G 7: 30,509,765 probably null Het
Rgs9 A T 11: 109,259,834 probably null Het
Stk-ps2 A G 1: 46,029,988 noncoding transcript Het
Svep1 C T 4: 58,176,006 G298R probably damaging Het
Troap T C 15: 99,081,221 S341P probably benign Het
Ugt3a2 T C 15: 9,335,729 F12S probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp236 G T 18: 82,624,396 T1123K probably damaging Het
Other mutations in Krt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Krt5 APN 15 101712641 missense unknown
IGL03013:Krt5 APN 15 101711668 missense probably benign 0.00
IGL03286:Krt5 APN 15 101707548 missense unknown
R1598:Krt5 UTSW 15 101712441 missense probably benign 0.38
R1697:Krt5 UTSW 15 101710585 missense probably benign 0.06
R1967:Krt5 UTSW 15 101711659 missense probably benign 0.21
R2143:Krt5 UTSW 15 101712359 missense probably damaging 1.00
R2438:Krt5 UTSW 15 101711658 missense probably benign 0.10
R4633:Krt5 UTSW 15 101711607 missense probably damaging 0.98
R4771:Krt5 UTSW 15 101709059 missense probably damaging 0.99
R4918:Krt5 UTSW 15 101710307 missense probably damaging 1.00
R5622:Krt5 UTSW 15 101709035 missense probably damaging 1.00
R6797:Krt5 UTSW 15 101712641 missense unknown
R6873:Krt5 UTSW 15 101712877 start gained probably benign
R7808:Krt5 UTSW 15 101709018 missense probably benign 0.01
R8010:Krt5 UTSW 15 101712356 missense probably damaging 1.00
X0019:Krt5 UTSW 15 101712368 missense probably damaging 0.98
Posted On2014-05-07