Incidental Mutation 'IGL02407:Krt4'
ID292102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt4
Ensembl Gene ENSMUSG00000059668
Gene Namekeratin 4
SynonymsKrt-2.4, K4, Krt2-4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.253) question?
Stock #IGL02407
Quality Score
Status
Chromosome15
Chromosomal Location101918535-101924735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101921305 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 263 (I263V)
Ref Sequence ENSEMBL: ENSMUSP00000023797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023797]
Predicted Effect probably benign
Transcript: ENSMUST00000023797
AA Change: I263V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: I263V

DomainStartEndE-ValueType
Pfam:Keratin_2_head 14 142 4.7e-37 PFAM
Filament 145 458 1.61e-166 SMART
low complexity region 465 511 N/A INTRINSIC
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 differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. 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 display hyperplasia throughout the epithelium of the esophagus and tongue. Mice homozygous or heterozygous for a dominant mutation display oral leukoplakia and homozygotes display postnatal growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,256,484 N393K probably damaging Het
A2m G A 6: 121,668,616 W1040* probably null Het
Adgrv1 C A 13: 81,479,670 A3691S probably damaging Het
Als2cl T A 9: 110,889,227 Y345* probably null Het
Aplp2 A T 9: 31,158,527 Y496* probably null Het
Ash1l T C 3: 89,072,548 V2793A probably damaging Het
Bfsp1 A T 2: 143,826,933 D575E probably benign Het
Ceacam20 G T 7: 19,970,407 V128F probably benign Het
Cers4 A T 8: 4,520,306 K204* probably null Het
Cog1 T C 11: 113,654,026 Y345H probably benign Het
Col14a1 T C 15: 55,448,876 probably benign Het
Col19a1 A T 1: 24,312,372 probably null Het
Ctnnd2 T A 15: 30,966,768 M955K probably damaging Het
Cyp3a16 A T 5: 145,451,842 M275K probably damaging Het
Degs2 T G 12: 108,691,995 T242P probably damaging Het
Elac2 T C 11: 64,999,175 V612A probably benign Het
Elovl6 T A 3: 129,605,084 F45I probably damaging Het
Exoc1 A C 5: 76,545,346 N360H probably damaging Het
Fam221b A T 4: 43,666,309 S101T possibly damaging Het
Glyr1 A G 16: 5,036,948 F89L probably benign Het
Herc4 C A 10: 63,306,424 T668K probably damaging Het
Hibadh C T 6: 52,548,889 V259I possibly damaging Het
Hp1bp3 T A 4: 138,240,672 D397E probably damaging Het
Ift80 G T 3: 68,898,536 D724E probably benign Het
Igkv3-10 T C 6: 70,573,239 probably benign Het
Irf9 G T 14: 55,605,221 A75S possibly damaging Het
Kif13a C T 13: 46,785,293 V76M probably damaging Het
Lgals8 A G 13: 12,454,818 W87R probably benign Het
Mccc2 G A 13: 99,991,308 P96L probably damaging Het
Megf11 A C 9: 64,680,249 D443A probably damaging Het
Nckap5l T C 15: 99,423,127 probably benign Het
Ndor1 A G 2: 25,249,269 V230A probably benign Het
Nif3l1 G T 1: 58,457,797 V294L possibly damaging Het
Olfr1285 T A 2: 111,408,578 noncoding transcript Het
Pcdhb13 T A 18: 37,443,075 Y169N probably damaging Het
Peg3 A G 7: 6,707,636 I1529T probably damaging Het
Piezo2 T A 18: 63,146,844 I219F probably damaging Het
Prpf38a G A 4: 108,567,639 R242W unknown Het
Prrc2a A T 17: 35,160,504 D255E unknown Het
Rapgef6 G T 11: 54,676,355 D1121Y possibly damaging Het
Ryr3 T A 2: 112,754,958 H2761L probably damaging Het
Sel1l A T 12: 91,843,268 probably benign Het
Slc30a9 A G 5: 67,352,722 D539G probably damaging Het
Slc38a9 A G 13: 112,690,243 S172G probably benign Het
Slfn2 C A 11: 83,069,576 T127K probably benign Het
Smurf1 A T 5: 144,884,724 M496K probably damaging Het
Srgap2 A T 1: 131,319,602 V564D probably damaging Het
Stk32a T C 18: 43,297,511 I162T probably benign Het
Tchhl1 A T 3: 93,471,327 N446I possibly damaging Het
Tmem64 T A 4: 15,266,584 H211Q probably damaging Het
Trim3 T C 7: 105,613,011 N586S probably benign Het
Trpm1 A G 7: 64,219,121 E507G probably damaging Het
Tyk2 G T 9: 21,109,227 probably benign Het
Ugt3a2 A T 15: 9,365,230 K310* probably null Het
Unc13a T A 8: 71,648,942 N1022Y probably damaging Het
Vmn1r172 A T 7: 23,659,803 N38Y probably damaging Het
Vmn2r100 A T 17: 19,521,508 I161F probably damaging Het
Zcchc17 A G 4: 130,349,315 M25T probably benign Het
Zfp563 G A 17: 33,104,821 R130Q probably benign Het
Zhx2 A G 15: 57,823,406 S724G probably benign Het
Other mutations in Krt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Krt4 APN 15 101920281 missense probably damaging 1.00
IGL02306:Krt4 APN 15 101921305 missense probably benign 0.13
IGL02504:Krt4 APN 15 101919292 missense unknown
R0042:Krt4 UTSW 15 101922752 splice site probably benign
R0042:Krt4 UTSW 15 101922752 splice site probably benign
R0211:Krt4 UTSW 15 101922782 missense possibly damaging 0.80
R0363:Krt4 UTSW 15 101924646 missense possibly damaging 0.91
R2018:Krt4 UTSW 15 101920651 missense probably damaging 1.00
R2067:Krt4 UTSW 15 101924664 missense possibly damaging 0.70
R2571:Krt4 UTSW 15 101921257 missense probably damaging 1.00
R3943:Krt4 UTSW 15 101921250 missense probably benign 0.00
R3944:Krt4 UTSW 15 101921250 missense probably benign 0.00
R5104:Krt4 UTSW 15 101920323 missense probably damaging 1.00
R5107:Krt4 UTSW 15 101922791 missense possibly damaging 0.89
R5579:Krt4 UTSW 15 101921234 missense probably benign 0.01
R6052:Krt4 UTSW 15 101922759 critical splice donor site probably null
R6429:Krt4 UTSW 15 101922794 missense probably benign 0.00
R7371:Krt4 UTSW 15 101920388 missense probably damaging 1.00
R8019:Krt4 UTSW 15 101920287 missense not run
Posted On2015-04-16