Incidental Mutation 'R2067:Krt4'
ID 226794
Institutional Source Beutler Lab
Gene Symbol Krt4
Ensembl Gene ENSMUSG00000059668
Gene Name keratin 4
Synonyms Krt-2.4, K4, Krt2-4
MMRRC Submission 040072-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R2067 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101918535-101924735 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101924664 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 3 (A3S)
Ref Sequence ENSEMBL: ENSMUSP00000023797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023797] [ENSMUST00000023799]
AlphaFold P07744
Predicted Effect possibly damaging
Transcript: ENSMUST00000023797
AA Change: A3S

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023797
Gene: ENSMUSG00000059668
AA Change: A3S

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
Predicted Effect probably benign
Transcript: ENSMUST00000023799
SMART Domains Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397

Pfam:Keratin_2_head 15 98 6.6e-11 PFAM
Pfam:Keratin_2_head 73 135 1.2e-21 PFAM
Filament 138 452 7.12e-159 SMART
low complexity region 474 500 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
Meta Mutation Damage Score 0.0808 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (76/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,689,322 (GRCm38) probably benign Het
Abca2 A T 2: 25,437,505 (GRCm38) I669F possibly damaging Het
Acin1 T A 14: 54,665,254 (GRCm38) Q360H probably damaging Het
Aldh3b1 T A 19: 3,921,755 (GRCm38) D72V probably benign Het
Alox12e G A 11: 70,316,002 (GRCm38) R620W probably damaging Het
Alpl T C 4: 137,749,545 (GRCm38) probably benign Het
Amy2a1 T C 3: 113,530,568 (GRCm38) I108V probably benign Het
Ascc2 A T 11: 4,681,496 (GRCm38) M646L probably benign Het
Bod1l G A 5: 41,817,086 (GRCm38) T2295M probably benign Het
Ccdc9 A T 7: 16,278,550 (GRCm38) probably null Het
Clptm1l C T 13: 73,607,723 (GRCm38) Q153* probably null Het
Csmd1 A G 8: 15,900,782 (GRCm38) S3476P probably benign Het
Ddias A T 7: 92,859,699 (GRCm38) M336K possibly damaging Het
Ehd1 T C 19: 6,298,078 (GRCm38) L362P probably benign Het
Epha1 G T 6: 42,366,053 (GRCm38) H187Q probably benign Het
Espl1 T C 15: 102,299,090 (GRCm38) S330P probably damaging Het
Fbln7 G T 2: 128,877,466 (GRCm38) R61L probably damaging Het
Fbxo41 C T 6: 85,478,471 (GRCm38) W577* probably null Het
Fgb C A 3: 83,049,689 (GRCm38) D25Y probably benign Het
Gc T A 5: 89,446,517 (GRCm38) K37N probably damaging Het
Gfpt1 T C 6: 87,057,754 (GRCm38) I178T probably benign Het
Gm12695 T C 4: 96,769,726 (GRCm38) T69A probably benign Het
Gm3944 C A 12: 18,853,894 (GRCm38) S8* probably null Het
Gm9912 T C 3: 149,185,159 (GRCm38) T113A unknown Het
Gpr156 A G 16: 37,978,751 (GRCm38) D109G probably benign Het
Hoxd1 A T 2: 74,763,366 (GRCm38) T89S probably benign Het
Htt C T 5: 34,825,982 (GRCm38) T975I probably benign Het
Itpr3 G A 17: 27,098,076 (GRCm38) M768I probably benign Het
Mrto4 T C 4: 139,349,023 (GRCm38) K86E probably benign Het
Mup4 T A 4: 59,960,622 (GRCm38) probably benign Het
Myh1 G A 11: 67,214,620 (GRCm38) D1079N possibly damaging Het
Myo1a A G 10: 127,705,478 (GRCm38) N43D probably benign Het
Napa A T 7: 16,115,278 (GRCm38) probably benign Het
Ndufa12 A G 10: 94,220,707 (GRCm38) D99G probably damaging Het
Neb A G 2: 52,284,263 (GRCm38) I1528T probably benign Het
Nek1 T C 8: 61,007,162 (GRCm38) S41P probably damaging Het
Nolc1 C T 19: 46,083,607 (GRCm38) T612M probably damaging Het
Nsun5 T G 5: 135,375,072 (GRCm38) Y301D probably damaging Het
Oas1g T C 5: 120,885,883 (GRCm38) E121G probably damaging Het
Olfr1085 G T 2: 86,658,437 (GRCm38) T7K probably damaging Het
Olfr1170 A G 2: 88,224,474 (GRCm38) V186A possibly damaging Het
Olfr324 A G 11: 58,597,570 (GRCm38) N58S probably damaging Het
Olfr397 A G 11: 73,964,914 (GRCm38) Y102C probably damaging Het
Olfr522 T A 7: 140,162,909 (GRCm38) I14F possibly damaging Het
Olfr910 T A 9: 38,539,280 (GRCm38) N128K probably benign Het
Osmr T C 15: 6,815,415 (GRCm38) N957D probably benign Het
Parn G A 16: 13,603,069 (GRCm38) S473L probably damaging Het
Phc2 T C 4: 128,747,136 (GRCm38) F672S probably damaging Het
Pik3c2b T C 1: 133,099,611 (GRCm38) S1283P probably damaging Het
Pole2 G A 12: 69,228,152 (GRCm38) R5W probably benign Het
Prl7a2 T A 13: 27,660,887 (GRCm38) Y172F probably damaging Het
Ptprz1 A G 6: 23,050,389 (GRCm38) probably benign Het
Rapgef3 C A 15: 97,766,961 (GRCm38) G7V probably damaging Het
Ripor1 T A 8: 105,617,708 (GRCm38) S491R probably benign Het
Rnf141 A G 7: 110,821,365 (GRCm38) probably benign Het
Ryr3 C T 2: 112,946,957 (GRCm38) R285Q probably damaging Het
Sall4 T C 2: 168,756,545 (GRCm38) N125S probably benign Het
Schip1 A G 3: 68,617,786 (GRCm38) K360R probably damaging Het
Senp6 T A 9: 80,089,869 (GRCm38) V55E probably benign Het
Skint1 T A 4: 112,025,533 (GRCm38) V258D probably benign Het
Slc25a16 T A 10: 62,932,751 (GRCm38) H130Q probably benign Het
Styx T C 14: 45,373,563 (GRCm38) V217A probably benign Het
Syne2 G A 12: 75,888,342 (GRCm38) probably null Het
Tagap1 A G 17: 6,956,860 (GRCm38) S146P probably benign Het
Tatdn2 A G 6: 113,704,142 (GRCm38) K379E probably benign Het
Thrap3 T C 4: 126,175,396 (GRCm38) Y654C possibly damaging Het
Tle2 T C 10: 81,580,551 (GRCm38) L135P probably damaging Het
Tmc1 A G 19: 20,824,309 (GRCm38) F451S possibly damaging Het
Trpm7 G A 2: 126,797,727 (GRCm38) P1650S probably damaging Het
Ttll4 G A 1: 74,680,382 (GRCm38) R16H possibly damaging Het
Ttn T C 2: 76,714,373 (GRCm38) N32795S probably damaging Het
Tubgcp6 T C 15: 89,104,489 (GRCm38) E803G probably benign Het
Ubr2 A G 17: 46,963,145 (GRCm38) probably null Het
Ugt2b35 A G 5: 87,001,553 (GRCm38) D221G probably damaging Het
Unc45b G A 11: 82,911,689 (GRCm38) A4T probably benign Het
Vmn1r70 A T 7: 10,634,337 (GRCm38) I251F possibly damaging Het
Vmn2r120 T A 17: 57,524,553 (GRCm38) H412L possibly damaging Het
Zfp59 A G 7: 27,853,510 (GRCm38) N129S probably benign Het
Zgrf1 T C 3: 127,613,350 (GRCm38) C1589R probably damaging Het
Other mutations in Krt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Krt4 APN 15 101,920,281 (GRCm38) missense probably damaging 1.00
IGL02306:Krt4 APN 15 101,921,305 (GRCm38) missense probably benign 0.13
IGL02407:Krt4 APN 15 101,921,305 (GRCm38) missense probably benign 0.13
IGL02504:Krt4 APN 15 101,919,292 (GRCm38) missense unknown
R0042:Krt4 UTSW 15 101,922,752 (GRCm38) splice site probably benign
R0042:Krt4 UTSW 15 101,922,752 (GRCm38) splice site probably benign
R0211:Krt4 UTSW 15 101,922,782 (GRCm38) missense possibly damaging 0.80
R0363:Krt4 UTSW 15 101,924,646 (GRCm38) missense possibly damaging 0.91
R2018:Krt4 UTSW 15 101,920,651 (GRCm38) missense probably damaging 1.00
R2571:Krt4 UTSW 15 101,921,257 (GRCm38) missense probably damaging 1.00
R3943:Krt4 UTSW 15 101,921,250 (GRCm38) missense probably benign 0.00
R3944:Krt4 UTSW 15 101,921,250 (GRCm38) missense probably benign 0.00
R5104:Krt4 UTSW 15 101,920,323 (GRCm38) missense probably damaging 1.00
R5107:Krt4 UTSW 15 101,922,791 (GRCm38) missense possibly damaging 0.89
R5579:Krt4 UTSW 15 101,921,234 (GRCm38) missense probably benign 0.01
R6052:Krt4 UTSW 15 101,922,759 (GRCm38) critical splice donor site probably null
R6429:Krt4 UTSW 15 101,922,794 (GRCm38) missense probably benign 0.00
R7371:Krt4 UTSW 15 101,920,388 (GRCm38) missense probably damaging 1.00
R8017:Krt4 UTSW 15 101,920,287 (GRCm38) missense probably damaging 0.99
R8019:Krt4 UTSW 15 101,920,287 (GRCm38) missense probably damaging 0.99
R8112:Krt4 UTSW 15 101,920,289 (GRCm38) missense probably damaging 1.00
R8175:Krt4 UTSW 15 101,920,549 (GRCm38) critical splice donor site probably null
R8824:Krt4 UTSW 15 101,920,642 (GRCm38) missense
R9733:Krt4 UTSW 15 101,919,129 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-17