Incidental Mutation 'IGL01323:Krt4'
ID 74127
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 # IGL01323
Quality Score
Status
Chromosome 15
Chromosomal Location 101826970-101833170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101828716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 383 (K383Q)
Ref Sequence ENSEMBL: ENSMUSP00000023797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023797]
AlphaFold P07744
Predicted Effect probably damaging
Transcript: ENSMUST00000023797
AA Change: K383Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: K383Q

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Ascl2 A G 7: 142,522,125 (GRCm39) S108P probably benign Het
B3gat1 T C 9: 26,667,206 (GRCm39) V146A possibly damaging Het
Barhl1 C T 2: 28,805,558 (GRCm39) S45N probably benign Het
Birc6 C T 17: 74,929,920 (GRCm39) A2370V probably damaging Het
C1qtnf7 A G 5: 43,766,602 (GRCm39) D67G possibly damaging Het
Cand2 A G 6: 115,762,086 (GRCm39) T171A probably benign Het
Ccdc77 T C 6: 120,311,757 (GRCm39) Q247R probably benign Het
Cenpp A T 13: 49,801,118 (GRCm39) V100D probably damaging Het
Cep135 A G 5: 76,739,612 (GRCm39) T3A probably benign Het
Eef2k T C 7: 120,484,038 (GRCm39) probably benign Het
Fga T C 3: 82,937,518 (GRCm39) S132P probably damaging Het
Gpr6 T A 10: 40,947,555 (GRCm39) N9I possibly damaging Het
Gvin2 A G 7: 105,546,009 (GRCm39) S2348P possibly damaging Het
Hacd3 A G 9: 64,905,587 (GRCm39) F184L probably damaging Het
Heatr1 T C 13: 12,413,819 (GRCm39) I132T possibly damaging Het
Igfbp7 A G 5: 77,499,884 (GRCm39) probably benign Het
Ighv8-6 T C 12: 115,129,477 (GRCm39) D93G possibly damaging Het
Izumo3 A G 4: 92,034,627 (GRCm39) probably benign Het
Jade2 T C 11: 51,716,165 (GRCm39) T347A possibly damaging Het
Kif18a A G 2: 109,128,787 (GRCm39) T419A probably benign Het
Krt34 A G 11: 99,929,606 (GRCm39) S267P possibly damaging Het
Lgals7 G T 7: 28,564,989 (GRCm39) E42D probably benign Het
Morc2b A G 17: 33,356,293 (GRCm39) V493A possibly damaging Het
Mtif2 T A 11: 29,491,447 (GRCm39) S557R probably damaging Het
Nup43 T A 10: 7,545,320 (GRCm39) F83I probably benign Het
Oosp2 A G 19: 11,624,825 (GRCm39) L155S probably damaging Het
Or1o1 G T 17: 37,717,031 (GRCm39) M197I probably benign Het
Plxnd1 T A 6: 115,943,760 (GRCm39) T1180S possibly damaging Het
Prpf39 T A 12: 65,089,498 (GRCm39) F79I possibly damaging Het
Prph G A 15: 98,956,517 (GRCm39) S465N possibly damaging Het
Purg A T 8: 33,876,631 (GRCm39) I90L probably damaging Het
Pxdn C A 12: 30,037,136 (GRCm39) Q305K probably benign Het
R3hdm1 G A 1: 128,144,280 (GRCm39) S816N probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tmem201 G A 4: 149,804,045 (GRCm39) probably benign Het
Tnfrsf22 G A 7: 143,197,111 (GRCm39) P76L probably damaging Het
Triml1 T C 8: 43,591,600 (GRCm39) probably null Het
Upp1 A G 11: 9,086,100 (GRCm39) *312W probably null Het
Wdfy3 G T 5: 102,042,930 (GRCm39) S1940R probably damaging Het
Xpc T C 6: 91,469,335 (GRCm39) Y804C probably damaging Het
Xrn2 C T 2: 146,876,767 (GRCm39) probably benign Het
Zfp106 A T 2: 120,354,945 (GRCm39) D1275E possibly damaging Het
Other mutations in Krt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02306:Krt4 APN 15 101,829,740 (GRCm39) missense probably benign 0.13
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 2013-10-07