Incidental Mutation 'IGL01794:Krt16'
ID 155291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt16
Ensembl Gene ENSMUSG00000053797
Gene Name keratin 16
Synonyms Krt1-16, K16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01794
Quality Score
Status
Chromosome 11
Chromosomal Location 100136917-100139728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100138731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 185 (T185I)
Ref Sequence ENSEMBL: ENSMUSP00000007280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007280]
AlphaFold Q9Z2K1
Predicted Effect probably benign
Transcript: ENSMUST00000007280
AA Change: T185I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797
AA Change: T185I

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
Filament 112 423 8.41e-170 SMART
low complexity region 454 467 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119257
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The encoded protein is a cytokeratin and acts as an innate immune system effector, promoting the inflammatory response upon breach of the skin barrier. Defects in this gene are a cause of pachyonychia congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,895,093 (GRCm39) R263* probably null Het
Appl2 A G 10: 83,450,158 (GRCm39) V238A probably benign Het
Bcl2l11 T A 2: 127,970,568 (GRCm39) S6T probably damaging Het
Bptf A G 11: 106,944,047 (GRCm39) probably null Het
Catsper3 T C 13: 55,946,719 (GRCm39) S139P possibly damaging Het
Cdh3 A G 8: 107,263,758 (GRCm39) N192S possibly damaging Het
Dsc1 A T 18: 20,243,240 (GRCm39) I71N probably damaging Het
Fbxw2 A G 2: 34,701,131 (GRCm39) probably benign Het
Gad1 G T 2: 70,427,512 (GRCm39) V473L probably benign Het
Golm2 T A 2: 121,742,407 (GRCm39) N206K probably benign Het
Gtpbp1 C T 15: 79,600,447 (GRCm39) T460I probably damaging Het
Mapk1ip1 C T 7: 138,438,426 (GRCm39) M1I probably null Het
Nt5e A T 9: 88,249,351 (GRCm39) L428F probably damaging Het
Or5p54 A G 7: 107,554,502 (GRCm39) Y218C probably damaging Het
Pah G T 10: 87,414,784 (GRCm39) V379F possibly damaging Het
Scn7a T C 2: 66,505,853 (GRCm39) T1679A probably benign Het
Sdccag8 T A 1: 176,672,873 (GRCm39) H293Q possibly damaging Het
Spmip4 T C 6: 50,554,826 (GRCm39) I268M probably damaging Het
Suco A G 1: 161,655,294 (GRCm39) M1066T probably benign Het
Trim9 A G 12: 70,328,654 (GRCm39) Y369H probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Other mutations in Krt16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Krt16 APN 11 100,139,543 (GRCm39) nonsense probably null
IGL01795:Krt16 APN 11 100,138,550 (GRCm39) splice site probably benign
IGL02221:Krt16 APN 11 100,137,162 (GRCm39) splice site probably benign
IGL02243:Krt16 APN 11 100,137,162 (GRCm39) splice site probably benign
IGL02410:Krt16 APN 11 100,137,162 (GRCm39) splice site probably benign
IGL02451:Krt16 APN 11 100,137,162 (GRCm39) splice site probably benign
IGL02457:Krt16 APN 11 100,137,162 (GRCm39) splice site probably benign
IGL02512:Krt16 APN 11 100,137,162 (GRCm39) splice site probably benign
IGL02745:Krt16 APN 11 100,137,162 (GRCm39) splice site probably benign
IGL02867:Krt16 APN 11 100,138,402 (GRCm39) missense probably damaging 1.00
PIT4131001:Krt16 UTSW 11 100,139,575 (GRCm39) missense unknown
PIT4472001:Krt16 UTSW 11 100,138,732 (GRCm39) missense probably benign 0.04
R0268:Krt16 UTSW 11 100,137,351 (GRCm39) splice site probably benign
R0709:Krt16 UTSW 11 100,137,280 (GRCm39) splice site probably benign
R1560:Krt16 UTSW 11 100,137,475 (GRCm39) missense probably damaging 1.00
R1728:Krt16 UTSW 11 100,138,533 (GRCm39) missense probably damaging 1.00
R1996:Krt16 UTSW 11 100,139,614 (GRCm39) missense unknown
R2927:Krt16 UTSW 11 100,139,625 (GRCm39) missense unknown
R3806:Krt16 UTSW 11 100,139,566 (GRCm39) missense unknown
R3907:Krt16 UTSW 11 100,137,989 (GRCm39) missense possibly damaging 0.83
R5133:Krt16 UTSW 11 100,138,457 (GRCm39) missense probably damaging 0.99
R5412:Krt16 UTSW 11 100,137,593 (GRCm39) missense probably damaging 1.00
R5723:Krt16 UTSW 11 100,139,272 (GRCm39) missense probably damaging 0.99
R6270:Krt16 UTSW 11 100,138,029 (GRCm39) missense possibly damaging 0.51
R6368:Krt16 UTSW 11 100,137,502 (GRCm39) missense probably damaging 1.00
R7191:Krt16 UTSW 11 100,137,484 (GRCm39) missense probably damaging 1.00
R7314:Krt16 UTSW 11 100,138,695 (GRCm39) missense probably damaging 1.00
R7446:Krt16 UTSW 11 100,137,610 (GRCm39) frame shift probably null
R7825:Krt16 UTSW 11 100,139,460 (GRCm39) missense unknown
R7852:Krt16 UTSW 11 100,137,592 (GRCm39) missense probably damaging 1.00
R8053:Krt16 UTSW 11 100,137,613 (GRCm39) missense probably damaging 1.00
R8251:Krt16 UTSW 11 100,139,196 (GRCm39) critical splice donor site probably null
R8526:Krt16 UTSW 11 100,137,309 (GRCm39) missense probably benign 0.00
R8547:Krt16 UTSW 11 100,137,083 (GRCm39) nonsense probably null
R8834:Krt16 UTSW 11 100,139,236 (GRCm39) missense probably damaging 1.00
R9607:Krt16 UTSW 11 100,138,453 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04