Incidental Mutation 'IGL01407:Krt40'
ID79824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt40
Ensembl Gene ENSMUSG00000059169
Gene Namekeratin 40
SynonymsKa36
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL01407
Quality Score
Status
Chromosome11
Chromosomal Location99537485-99543158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 99541219 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 222 (C222Y)
Ref Sequence ENSEMBL: ENSMUSP00000073869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074253] [ENSMUST00000107443]
Predicted Effect probably damaging
Transcript: ENSMUST00000074253
AA Change: C222Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: C222Y

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 probably benign
Transcript: ENSMUST00000107443
SMART Domains Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169

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
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,245,944 D1140V probably damaging Het
Ak1 G T 2: 32,633,495 probably benign Het
Ano1 A T 7: 144,637,111 L411H probably benign Het
Atad2 A T 15: 58,104,525 N569K probably benign Het
Bst2 C A 8: 71,537,186 R81L probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Chrna5 C T 9: 55,004,399 T57M possibly damaging Het
Cp A T 3: 19,977,205 D602V possibly damaging Het
Drd2 T C 9: 49,400,815 I156T probably damaging Het
Elp4 G A 2: 105,792,308 R349W probably damaging Het
Eml6 G A 11: 29,755,021 R1508* probably null Het
Etl4 T C 2: 20,743,856 L335S probably damaging Het
Fat3 A T 9: 16,378,023 I68K probably benign Het
Fyco1 G T 9: 123,828,879 A744D probably damaging Het
Gm22165 G T 3: 64,105,465 probably benign Het
Gse1 T C 8: 120,553,587 M1T probably null Het
Hs3st5 A T 10: 36,833,408 H313L probably damaging Het
Hsd17b3 T C 13: 64,062,905 Y212C probably damaging Het
Hyal5 G T 6: 24,876,407 S93I probably benign Het
Itgb1 T C 8: 128,722,834 V578A probably benign Het
Klf12 A T 14: 100,109,858 N12K possibly damaging Het
Lrrn2 T C 1: 132,937,227 L10P probably damaging Het
Lrsam1 T C 2: 32,947,903 Y213C probably damaging Het
Mitf C A 6: 98,017,931 T277K possibly damaging Het
Ncan C T 8: 70,101,957 R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 E578G probably benign Het
Patj A G 4: 98,413,050 T191A possibly damaging Het
Pign A G 1: 105,589,302 V533A probably benign Het
Smad5 G A 13: 56,735,817 V339I probably benign Het
Spem2 T A 11: 69,817,239 Y300F possibly damaging Het
Trank1 T G 9: 111,364,722 S605A probably damaging Het
Treml4 T A 17: 48,264,849 D93E possibly damaging Het
Tsc22d2 T A 3: 58,416,503 V272E probably damaging Het
Vmn2r19 T A 6: 123,329,867 F445I possibly damaging Het
Zfp712 T A 13: 67,042,166 Q99L possibly damaging Het
Zfp719 A T 7: 43,584,187 K10I probably benign Het
Other mutations in Krt40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Krt40 APN 11 99542727 missense probably damaging 1.00
IGL01621:Krt40 APN 11 99542868 missense probably damaging 1.00
IGL01921:Krt40 APN 11 99543163 unclassified probably benign
IGL02095:Krt40 APN 11 99541671 missense probably damaging 0.98
IGL02735:Krt40 APN 11 99538635 missense probably damaging 1.00
IGL02960:Krt40 APN 11 99539867 splice site probably null
IGL02965:Krt40 APN 11 99541666 missense probably damaging 1.00
IGL03168:Krt40 APN 11 99543028 missense possibly damaging 0.87
IGL03240:Krt40 APN 11 99537568 missense probably damaging 1.00
IGL03387:Krt40 APN 11 99539885 missense probably damaging 1.00
R0178:Krt40 UTSW 11 99541739 missense probably damaging 0.99
R0242:Krt40 UTSW 11 99538742 missense probably damaging 1.00
R0242:Krt40 UTSW 11 99538742 missense probably damaging 1.00
R0389:Krt40 UTSW 11 99541714 nonsense probably null
R1104:Krt40 UTSW 11 99540233 missense probably damaging 1.00
R2018:Krt40 UTSW 11 99540087 missense probably damaging 1.00
R2022:Krt40 UTSW 11 99539992 missense probably damaging 1.00
R4498:Krt40 UTSW 11 99543074 missense possibly damaging 0.53
R4716:Krt40 UTSW 11 99540219 missense probably damaging 1.00
R5886:Krt40 UTSW 11 99540081 missense probably benign 0.34
R6232:Krt40 UTSW 11 99543094 missense possibly damaging 0.85
R6233:Krt40 UTSW 11 99543094 missense possibly damaging 0.85
R6235:Krt40 UTSW 11 99543094 missense possibly damaging 0.85
R6248:Krt40 UTSW 11 99541740 missense possibly damaging 0.95
R7064:Krt40 UTSW 11 99540128 missense probably benign 0.32
R7400:Krt40 UTSW 11 99543143 missense probably benign 0.00
Posted On2013-11-05