Incidental Mutation 'R7400:Krt40'
ID 574116
Institutional Source Beutler Lab
Gene Symbol Krt40
Ensembl Gene ENSMUSG00000059169
Gene Name keratin 40
Synonyms Ka36
MMRRC Submission 045482-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7400 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 99428311-99433984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99433969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 6 (S6P)
Ref Sequence ENSEMBL: ENSMUSP00000073869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074253] [ENSMUST00000107443]
AlphaFold Q6IFX3
Predicted Effect probably benign
Transcript: ENSMUST00000074253
AA Change: S6P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: S6P

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
Filament 88 399 1.07e-139 SMART
internal_repeat_1 409 419 9.76e-5 PROSPERO
internal_repeat_1 417 427 9.76e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000107443
AA Change: S6P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
AA Change: S6P

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
Pfam:Filament 88 149 4.8e-19 PFAM
Pfam:Filament 146 319 6.1e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (69/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,496,547 (GRCm39) S118P unknown Het
Ahnak T A 19: 8,991,977 (GRCm39) D4420E probably damaging Het
Atp5mc2 C T 15: 102,573,547 (GRCm39) A90T possibly damaging Het
Batf2 A G 19: 6,221,538 (GRCm39) Y116C probably damaging Het
Cd48 G A 1: 171,523,493 (GRCm39) R112H probably benign Het
Cdh8 A T 8: 100,006,192 (GRCm39) Y132N probably damaging Het
Cfap70 A C 14: 20,458,335 (GRCm39) S793A probably benign Het
Cmip A G 8: 117,984,144 (GRCm39) probably null Het
Cyp1a2 T C 9: 57,589,223 (GRCm39) N197S probably benign Het
Diaph1 T C 18: 37,987,555 (GRCm39) D1067G probably damaging Het
Disp2 T C 2: 118,622,367 (GRCm39) L1033P probably damaging Het
Dock6 G T 9: 21,713,103 (GRCm39) A1981D possibly damaging Het
Eci3 T C 13: 35,143,960 (GRCm39) D55G probably benign Het
Eea1 T A 10: 95,831,432 (GRCm39) D174E probably benign Het
Ehd2 T C 7: 15,684,581 (GRCm39) E406G possibly damaging Het
Erich3 A G 3: 154,468,214 (GRCm39) K889E Het
Fat4 C A 3: 38,942,073 (GRCm39) T322K probably damaging Het
Fitm1 A T 14: 55,814,226 (GRCm39) I241F possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Gpsm2 T A 3: 108,587,004 (GRCm39) D644V probably damaging Het
Gucy2d C A 7: 98,092,847 (GRCm39) L75M possibly damaging Het
Gvin2 T A 7: 105,551,247 (GRCm39) I602F probably benign Het
Hmcn1 T C 1: 150,550,181 (GRCm39) I2668V probably damaging Het
Hoxa7 A G 6: 52,194,033 (GRCm39) I118T possibly damaging Het
Hsp90ab1 A G 17: 45,880,210 (GRCm39) V473A probably benign Het
Ica1l T C 1: 60,081,801 (GRCm39) probably null Het
Ighv1-72 A G 12: 115,721,837 (GRCm39) S40P probably damaging Het
Inhca T A 9: 103,127,861 (GRCm39) E690V probably benign Het
Kif28 A C 1: 179,527,839 (GRCm39) W771G probably damaging Het
Klf13 G C 7: 63,587,996 (GRCm39) A100G probably benign Het
Klhl5 A G 5: 65,305,933 (GRCm39) E300G possibly damaging Het
Map3k13 C T 16: 21,741,072 (GRCm39) R800W probably damaging Het
Mef2d T C 3: 88,075,038 (GRCm39) L408P possibly damaging Het
Mmp10 T A 9: 7,503,301 (GRCm39) M87K probably damaging Het
Mrgprd T A 7: 144,875,643 (GRCm39) H171Q probably benign Het
Muc1 C T 3: 89,137,953 (GRCm39) T265I possibly damaging Het
Myo15b A G 11: 115,750,939 (GRCm39) N570D Het
Nfs1 T A 2: 155,968,243 (GRCm39) I408F probably damaging Het
Npdc1 G T 2: 25,296,257 (GRCm39) C48F probably damaging Het
Or2j3 A T 17: 38,616,222 (GRCm39) N43K possibly damaging Het
Or52e7 T C 7: 104,684,417 (GRCm39) I4T probably benign Het
Or52j3 T C 7: 102,836,587 (GRCm39) S260P probably damaging Het
Or9a2 A T 6: 41,748,678 (GRCm39) L185H probably damaging Het
Osbpl2 T C 2: 179,795,114 (GRCm39) M332T probably benign Het
Ostm1 T A 10: 42,574,213 (GRCm39) V302D probably damaging Het
Otof T C 5: 30,542,532 (GRCm39) D672G probably benign Het
Plekha6 A T 1: 133,201,762 (GRCm39) K392* probably null Het
Pnpla1 A T 17: 29,077,950 (GRCm39) D37V probably damaging Het
Rasgrp1 A G 2: 117,129,026 (GRCm39) S198P probably damaging Het
Reln A T 5: 22,176,932 (GRCm39) N1911K probably damaging Het
Ripply3 C A 16: 94,136,759 (GRCm39) A140E probably benign Het
Siglec1 A G 2: 130,928,015 (GRCm39) C8R possibly damaging Het
Slamf6 T C 1: 171,747,360 (GRCm39) S41P unknown Het
Slc15a5 A G 6: 138,050,055 (GRCm39) M120T probably benign Het
Slc25a20 T G 9: 108,559,172 (GRCm39) D179E possibly damaging Het
Sltm T A 9: 70,493,352 (GRCm39) V783E probably damaging Het
Smc1b C A 15: 84,953,921 (GRCm39) R1116L probably damaging Het
Smim23 A G 11: 32,774,471 (GRCm39) V16A probably benign Het
Spata20 A G 11: 94,374,226 (GRCm39) V348A probably benign Het
Spen T C 4: 141,201,052 (GRCm39) D2525G probably damaging Het
St14 A C 9: 31,019,571 (GRCm39) N83K probably benign Het
Stab1 T C 14: 30,879,341 (GRCm39) N713S probably null Het
Syne1 A T 10: 5,168,580 (GRCm39) L5267H probably benign Het
Tenm4 T C 7: 96,344,010 (GRCm39) L271P probably damaging Het
Tfap2d C T 1: 19,213,150 (GRCm39) H325Y possibly damaging Het
Trav23 A G 14: 54,215,020 (GRCm39) R78G probably benign Het
Ttc39c A T 18: 12,776,856 (GRCm39) probably benign Het
Unc79 A G 12: 103,070,889 (GRCm39) D1228G probably damaging Het
Vmn1r66 T A 7: 10,008,874 (GRCm39) H53L probably damaging Het
Vps13b A T 15: 35,379,046 (GRCm39) L53F probably damaging Het
Zfp532 C T 18: 65,771,984 (GRCm39) T834M possibly damaging Het
Other mutations in Krt40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Krt40 APN 11 99,432,045 (GRCm39) missense probably damaging 1.00
IGL01483:Krt40 APN 11 99,433,553 (GRCm39) missense probably damaging 1.00
IGL01621:Krt40 APN 11 99,433,694 (GRCm39) missense probably damaging 1.00
IGL01921:Krt40 APN 11 99,433,989 (GRCm39) unclassified probably benign
IGL02095:Krt40 APN 11 99,432,497 (GRCm39) missense probably damaging 0.98
IGL02735:Krt40 APN 11 99,429,461 (GRCm39) missense probably damaging 1.00
IGL02960:Krt40 APN 11 99,430,693 (GRCm39) splice site probably null
IGL02965:Krt40 APN 11 99,432,492 (GRCm39) missense probably damaging 1.00
IGL03168:Krt40 APN 11 99,433,854 (GRCm39) missense possibly damaging 0.87
IGL03240:Krt40 APN 11 99,428,394 (GRCm39) missense probably damaging 1.00
IGL03387:Krt40 APN 11 99,430,711 (GRCm39) missense probably damaging 1.00
R0178:Krt40 UTSW 11 99,432,565 (GRCm39) missense probably damaging 0.99
R0242:Krt40 UTSW 11 99,429,568 (GRCm39) missense probably damaging 1.00
R0242:Krt40 UTSW 11 99,429,568 (GRCm39) missense probably damaging 1.00
R0389:Krt40 UTSW 11 99,432,540 (GRCm39) nonsense probably null
R1104:Krt40 UTSW 11 99,431,059 (GRCm39) missense probably damaging 1.00
R2018:Krt40 UTSW 11 99,430,913 (GRCm39) missense probably damaging 1.00
R2022:Krt40 UTSW 11 99,430,818 (GRCm39) missense probably damaging 1.00
R4498:Krt40 UTSW 11 99,433,900 (GRCm39) missense possibly damaging 0.53
R4716:Krt40 UTSW 11 99,431,045 (GRCm39) missense probably damaging 1.00
R5886:Krt40 UTSW 11 99,430,907 (GRCm39) missense probably benign 0.34
R6232:Krt40 UTSW 11 99,433,920 (GRCm39) missense possibly damaging 0.85
R6233:Krt40 UTSW 11 99,433,920 (GRCm39) missense possibly damaging 0.85
R6235:Krt40 UTSW 11 99,433,920 (GRCm39) missense possibly damaging 0.85
R6248:Krt40 UTSW 11 99,432,566 (GRCm39) missense possibly damaging 0.95
R7064:Krt40 UTSW 11 99,430,954 (GRCm39) missense probably benign 0.32
R7589:Krt40 UTSW 11 99,430,983 (GRCm39) missense probably damaging 1.00
R7831:Krt40 UTSW 11 99,432,087 (GRCm39) missense probably benign 0.06
R7838:Krt40 UTSW 11 99,430,961 (GRCm39) missense possibly damaging 0.92
R9156:Krt40 UTSW 11 99,430,693 (GRCm39) splice site probably null
R9342:Krt40 UTSW 11 99,429,579 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGAACGATCCTTCCTCACAC -3'
(R):5'- ACTGGCACCTGTAGCACTAG -3'

Sequencing Primer
(F):5'- CAGGCAAGGACTGTTACAGCC -3'
(R):5'- CTAGAGAAAACATCGGTGTGTCCTG -3'
Posted On 2019-09-13