Incidental Mutation 'IGL02960:Krt40'
ID365325
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: 0.070) question?
Stock #IGL02960
Quality Score
Status
Chromosome11
Chromosomal Location99537485-99543158 bp(-) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) C to T at 99539867 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074253] [ENSMUST00000107443]
Predicted Effect probably null
Transcript: ENSMUST00000074253
SMART Domains Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169

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 null
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,808 R14C probably benign Het
Adam29 A T 8: 55,872,666 L251* probably null Het
Atpaf2 T C 11: 60,405,824 E161G probably damaging Het
Brwd1 T C 16: 96,057,466 D381G probably damaging Het
Cept1 T A 3: 106,539,396 R45* probably null Het
Col3a1 A G 1: 45,328,455 E273G unknown Het
Cuzd1 T C 7: 131,320,103 N57D probably benign Het
Cyp2b13 A G 7: 26,061,676 K53E probably benign Het
Fadd T C 7: 144,580,539 E203G probably benign Het
Gm14548 T C 7: 3,897,079 T175A possibly damaging Het
Gm3159 G A 14: 4,400,552 probably null Het
Gpr137c T C 14: 45,246,433 F206L possibly damaging Het
Hephl1 G T 9: 15,084,319 T471N probably damaging Het
Ido1 A T 8: 24,593,329 probably benign Het
Lrp2 T A 2: 69,455,453 probably benign Het
Lrrc8a T A 2: 30,257,013 L613H probably damaging Het
Mettl14 A G 3: 123,374,885 Y169H probably damaging Het
Nlrp4a A G 7: 26,449,730 Q254R probably benign Het
Olfr1211 A C 2: 88,929,784 M177R possibly damaging Het
Olfr1356 A T 10: 78,847,537 I126N probably damaging Het
Pkhd1 A T 1: 20,377,446 M2241K possibly damaging Het
Ptprd G A 4: 76,128,868 S387L probably damaging Het
Ryr1 A C 7: 29,060,053 L3264R probably damaging Het
Serpina16 G A 12: 103,675,379 T29I probably benign Het
Slc9a7 A G X: 20,186,143 M237T probably benign Het
Tbck A G 3: 132,722,783 T300A probably benign Het
Tcaf1 A C 6: 42,686,459 D162E probably benign Het
Unc80 G A 1: 66,678,058 probably benign Het
Usp17le A C 7: 104,768,740 H398Q probably benign Het
Utp15 G A 13: 98,252,881 T303M probably benign Het
Vmn2r86 A C 10: 130,453,767 D86E possibly damaging Het
Zmym2 T A 14: 56,938,413 C822S probably benign Het
Zp3r T C 1: 130,583,438 D336G possibly damaging Het
Zpr1 A G 9: 46,273,551 H82R probably damaging Het
Other mutations in Krt40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Krt40 APN 11 99541219 missense probably damaging 1.00
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
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
R7589:Krt40 UTSW 11 99540157 missense probably damaging 1.00
R7831:Krt40 UTSW 11 99541261 missense probably benign 0.06
R7838:Krt40 UTSW 11 99540135 missense possibly damaging 0.92
R7914:Krt40 UTSW 11 99541261 missense probably benign 0.06
R7921:Krt40 UTSW 11 99540135 missense possibly damaging 0.92
Posted On2015-12-18