Incidental Mutation 'IGL03286:Krt5'
ID415740
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 #IGL03286
Quality Score
Status
Chromosome15
Chromosomal Location101707070-101712898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101707548 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 544 (F544S)
Ref Sequence ENSEMBL: ENSMUSP00000023709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023709]
Predicted Effect unknown
Transcript: ENSMUST00000023709
AA Change: F544S
SMART Domains Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: F544S

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,049,384 G110S probably benign Het
Arhgap32 T C 9: 32,259,520 S1548P probably benign Het
Cacna1s A G 1: 136,077,659 D147G probably benign Het
Calcoco2 A G 11: 96,103,272 V116A possibly damaging Het
Chd5 A T 4: 152,385,495 M1842L probably benign Het
Comt T C 16: 18,411,740 D73G probably damaging Het
Ctnna1 A G 18: 35,175,153 I175M probably benign Het
Dnah6 A T 6: 73,083,085 Y2839N probably damaging Het
Dph7 T A 2: 24,966,616 H193Q probably damaging Het
Eif2b5 A G 16: 20,502,262 D258G probably damaging Het
Eml5 T C 12: 98,860,503 D630G probably damaging Het
Ext2 C T 2: 93,707,272 V590M probably damaging Het
Fchsd2 T C 7: 101,259,775 probably null Het
Gm13272 A G 4: 88,780,349 Q167R probably benign Het
Gm21834 A G 17: 57,741,927 V98A possibly damaging Het
Grid1 T A 14: 35,520,685 probably benign Het
H2-DMa T A 17: 34,137,109 probably null Het
Ighv5-17 T G 12: 113,859,177 E108A possibly damaging Het
Invs A G 4: 48,382,261 T144A probably benign Het
Ipo9 A G 1: 135,407,078 probably benign Het
Itga4 A T 2: 79,289,362 Y504F probably damaging Het
Larp4 A G 15: 99,986,086 Y67C probably damaging Het
Msh2 T C 17: 87,682,667 M261T possibly damaging Het
Nav1 A T 1: 135,454,536 C1367S probably benign Het
Nox4 T A 7: 87,370,141 probably benign Het
Noxa1 A G 2: 25,085,720 probably null Het
Olfr1450 A C 19: 12,954,168 Y193S probably benign Het
Olfr414 A C 1: 174,431,177 I250L probably benign Het
Pde4d T A 13: 109,954,506 probably benign Het
Pdlim2 C T 14: 70,174,476 G36S possibly damaging Het
Plekhm2 A G 4: 141,634,347 S262P possibly damaging Het
Pnpla6 C A 8: 3,531,473 T582K probably damaging Het
Rap1b A T 10: 117,818,575 L120* probably null Het
Rft1 C T 14: 30,661,366 T121I probably benign Het
Scn1a A G 2: 66,277,576 I1613T probably damaging Het
Slc47a2 T G 11: 61,342,467 E79A possibly damaging Het
Slc9a4 A G 1: 40,580,768 I85V probably null Het
Slfn8 A T 11: 83,013,468 F365L probably damaging Het
Smcr8 T A 11: 60,778,027 probably benign Het
Sntb1 T C 15: 55,792,046 D258G possibly damaging Het
Sorbs1 A G 19: 40,344,414 I520T probably damaging Het
Sptbn2 T C 19: 4,747,832 S1896P probably damaging Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stab1 C T 14: 31,159,326 probably benign Het
Tars2 T C 3: 95,754,755 probably benign Het
Tchhl1 C T 3: 93,471,123 A378V probably benign Het
Tet3 A T 6: 83,375,778 F1012Y probably damaging Het
Tuba8 A G 6: 121,222,954 D199G possibly damaging Het
Vmn2r110 T A 17: 20,584,206 T151S possibly damaging Het
Xirp2 T C 2: 67,516,310 I2965T probably damaging Het
Zfp688 T A 7: 127,419,531 M141L probably benign Het
Other mutations in Krt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Krt5 APN 15 101712641 missense unknown
IGL01949:Krt5 APN 15 101710613 missense probably benign 0.14
IGL03013:Krt5 APN 15 101711668 missense probably benign 0.00
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
X0019:Krt5 UTSW 15 101712368 missense probably damaging 0.98
Posted On2016-08-02