Incidental Mutation 'IGL02306:Krt4'
ID 287575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt4
Ensembl Gene ENSMUSG00000059668
Gene Name keratin 4
Synonyms Krt-2.4, K4, Krt2-4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # IGL02306
Quality Score
Status
Chromosome 15
Chromosomal Location 101826970-101833170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101829740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 263 (I263V)
Ref Sequence ENSEMBL: ENSMUSP00000023797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023797]
AlphaFold P07744
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,952,044 (GRCm39) Y680C probably damaging Het
Abcb11 C T 2: 69,095,801 (GRCm39) W846* probably null Het
Adam34 G A 8: 44,103,522 (GRCm39) R708C probably benign Het
Adam6a T A 12: 113,509,343 (GRCm39) L572Q possibly damaging Het
Aldoart2 A G 12: 55,612,489 (GRCm39) Y138C probably damaging Het
Amigo1 T A 3: 108,095,302 (GRCm39) F267Y probably benign Het
Car7 A G 8: 105,275,630 (GRCm39) Y137C probably damaging Het
Ccar2 A T 14: 70,379,471 (GRCm39) M509K probably benign Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cmya5 C T 13: 93,234,527 (GRCm39) G187D probably damaging Het
Crot A T 5: 9,018,701 (GRCm39) V555E possibly damaging Het
Cstf1 C T 2: 172,214,891 (GRCm39) T4I probably benign Het
Cyp2a12 A G 7: 26,732,008 (GRCm39) K250E probably damaging Het
Deaf1 T C 7: 140,904,094 (GRCm39) probably null Het
Dse C T 10: 34,036,130 (GRCm39) E249K probably damaging Het
E4f1 G T 17: 24,665,903 (GRCm39) R88S probably damaging Het
Fam83a A C 15: 57,858,704 (GRCm39) D248A probably damaging Het
Fhip2b T C 14: 70,826,437 (GRCm39) D217G probably benign Het
Hadhb T A 5: 30,371,747 (GRCm39) L66Q probably null Het
Kalrn T C 16: 34,130,897 (GRCm39) E440G probably damaging Het
Kif3b A G 2: 153,162,572 (GRCm39) Y527C probably damaging Het
Krtap29-1 A T 11: 99,869,092 (GRCm39) V263E probably damaging Het
Mms19 A G 19: 41,954,703 (GRCm39) L72P probably damaging Het
Mylpf T A 7: 126,812,330 (GRCm39) probably benign Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Nedd4l T G 18: 65,306,025 (GRCm39) S292R possibly damaging Het
Nlrc3 A C 16: 3,782,688 (GRCm39) D240E probably damaging Het
Obscn A T 11: 58,890,497 (GRCm39) I7345N unknown Het
Or4c102 A T 2: 88,422,950 (GRCm39) K267N probably benign Het
Ostn A T 16: 27,165,691 (GRCm39) S127C probably damaging Het
Patl1 A G 19: 11,920,250 (GRCm39) K735E possibly damaging Het
Pde12 A G 14: 26,389,533 (GRCm39) L392P possibly damaging Het
Plxdc2 A G 2: 16,665,585 (GRCm39) I213V probably benign Het
Plxna4 T A 6: 32,183,059 (GRCm39) Y948F probably benign Het
Prlhr A T 19: 60,456,353 (GRCm39) V71E probably damaging Het
Prlr C T 15: 10,328,760 (GRCm39) P412S probably benign Het
Prmt9 A G 8: 78,287,447 (GRCm39) K196R probably benign Het
Rundc3a T A 11: 102,291,764 (GRCm39) L387Q probably damaging Het
Ryr3 T C 2: 112,664,459 (GRCm39) I1611V probably damaging Het
Ryr3 A G 2: 112,677,744 (GRCm39) probably null Het
Scart1 T C 7: 139,803,269 (GRCm39) C278R probably damaging Het
Sfxn2 T A 19: 46,578,987 (GRCm39) M240K probably damaging Het
Skor2 T C 18: 76,950,374 (GRCm39) S901P probably benign Het
Smad4 T C 18: 73,795,940 (GRCm39) probably null Het
Snrnp40 T G 4: 130,258,893 (GRCm39) C100W probably benign Het
Spink5 T A 18: 44,097,511 (GRCm39) D19E probably damaging Het
Sult1d1 T A 5: 87,703,914 (GRCm39) probably benign Het
Wdr59 G A 8: 112,219,365 (GRCm39) L231F probably damaging Het
Other mutations in Krt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Krt4 APN 15 101,828,716 (GRCm39) missense probably damaging 1.00
IGL02407:Krt4 APN 15 101,829,740 (GRCm39) missense probably benign 0.13
IGL02504:Krt4 APN 15 101,827,727 (GRCm39) missense unknown
R0042:Krt4 UTSW 15 101,831,187 (GRCm39) splice site probably benign
R0042:Krt4 UTSW 15 101,831,187 (GRCm39) splice site probably benign
R0211:Krt4 UTSW 15 101,831,217 (GRCm39) missense possibly damaging 0.80
R0363:Krt4 UTSW 15 101,833,081 (GRCm39) missense possibly damaging 0.91
R2018:Krt4 UTSW 15 101,829,086 (GRCm39) missense probably damaging 1.00
R2067:Krt4 UTSW 15 101,833,099 (GRCm39) missense possibly damaging 0.70
R2571:Krt4 UTSW 15 101,829,692 (GRCm39) missense probably damaging 1.00
R3943:Krt4 UTSW 15 101,829,685 (GRCm39) missense probably benign 0.00
R3944:Krt4 UTSW 15 101,829,685 (GRCm39) missense probably benign 0.00
R5104:Krt4 UTSW 15 101,828,758 (GRCm39) missense probably damaging 1.00
R5107:Krt4 UTSW 15 101,831,226 (GRCm39) missense possibly damaging 0.89
R5579:Krt4 UTSW 15 101,829,669 (GRCm39) missense probably benign 0.01
R6052:Krt4 UTSW 15 101,831,194 (GRCm39) critical splice donor site probably null
R6429:Krt4 UTSW 15 101,831,229 (GRCm39) missense probably benign 0.00
R7371:Krt4 UTSW 15 101,828,823 (GRCm39) missense probably damaging 1.00
R8017:Krt4 UTSW 15 101,828,722 (GRCm39) missense probably damaging 0.99
R8019:Krt4 UTSW 15 101,828,722 (GRCm39) missense probably damaging 0.99
R8112:Krt4 UTSW 15 101,828,724 (GRCm39) missense probably damaging 1.00
R8175:Krt4 UTSW 15 101,828,984 (GRCm39) critical splice donor site probably null
R8824:Krt4 UTSW 15 101,829,077 (GRCm39) missense
R9733:Krt4 UTSW 15 101,827,564 (GRCm39) missense unknown
Posted On 2015-04-16