Incidental Mutation 'IGL01795:Krt16'
ID155333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt16
Ensembl Gene ENSMUSG00000053797
Gene Namekeratin 16
SynonymsKrt1-16, K16
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01795
Quality Score
Status
Chromosome11
Chromosomal Location100246091-100248902 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 100247724 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007280]
Predicted Effect probably benign
Transcript: ENSMUST00000007280
SMART Domains Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451G09Rik T G 16: 4,974,071 noncoding transcript Het
4930572O03Rik C A 5: 15,656,886 probably benign Het
4930590J08Rik C T 6: 91,918,112 R263* probably null Het
Arfgef1 A T 1: 10,147,528 I1562K probably benign Het
B4galt1 T A 4: 40,807,760 D347V probably damaging Het
Ccdc178 T A 18: 22,019,118 R646S probably benign Het
Ccr1 A T 9: 123,964,112 L127* probably null Het
Cd109 A G 9: 78,661,765 probably benign Het
Chd6 A G 2: 160,961,374 V2128A probably benign Het
Chil6 T A 3: 106,388,792 I376F probably damaging Het
Chit1 T C 1: 134,148,429 S275P probably damaging Het
Erap1 T A 13: 74,666,090 probably null Het
F5 T C 1: 164,194,390 V1478A probably benign Het
Fras1 G T 5: 96,778,045 V3703F probably damaging Het
Hmmr C T 11: 40,721,734 M185I probably benign Het
Kcnu1 A G 8: 25,913,705 Y8C probably damaging Het
Mcf2l A G 8: 13,000,749 probably null Het
Mgat5 C T 1: 127,469,231 R572W probably damaging Het
Neil2 T C 14: 63,188,750 D57G probably benign Het
Nom1 A G 5: 29,446,871 T736A probably benign Het
Olfr1030 T A 2: 85,984,134 I98N probably damaging Het
Olfr1301 A T 2: 111,754,386 M46L probably benign Het
Olfr414 A T 1: 174,430,649 I74F possibly damaging Het
Prr14l A T 5: 32,831,845 probably benign Het
Sall1 A G 8: 89,028,680 S1224P probably benign Het
Slc44a2 A C 9: 21,345,349 K336Q probably damaging Het
Sptan1 C T 2: 30,018,489 T1754I probably benign Het
Zdhhc5 T C 2: 84,690,046 S596G probably benign Het
Other mutations in Krt16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Krt16 APN 11 100248717 nonsense probably null
IGL01794:Krt16 APN 11 100247905 missense probably benign 0.00
IGL02221:Krt16 APN 11 100246336 splice site probably benign
IGL02243:Krt16 APN 11 100246336 splice site probably benign
IGL02410:Krt16 APN 11 100246336 splice site probably benign
IGL02451:Krt16 APN 11 100246336 splice site probably benign
IGL02457:Krt16 APN 11 100246336 splice site probably benign
IGL02512:Krt16 APN 11 100246336 splice site probably benign
IGL02745:Krt16 APN 11 100246336 splice site probably benign
IGL02867:Krt16 APN 11 100247576 missense probably damaging 1.00
PIT4131001:Krt16 UTSW 11 100248749 missense unknown
PIT4472001:Krt16 UTSW 11 100247906 missense probably benign 0.04
R0268:Krt16 UTSW 11 100246525 splice site probably benign
R0709:Krt16 UTSW 11 100246454 splice site probably benign
R1560:Krt16 UTSW 11 100246649 missense probably damaging 1.00
R1728:Krt16 UTSW 11 100247707 missense probably damaging 1.00
R1996:Krt16 UTSW 11 100248788 missense unknown
R2927:Krt16 UTSW 11 100248799 missense unknown
R3806:Krt16 UTSW 11 100248740 missense unknown
R3907:Krt16 UTSW 11 100247163 missense possibly damaging 0.83
R5133:Krt16 UTSW 11 100247631 missense probably damaging 0.99
R5412:Krt16 UTSW 11 100246767 missense probably damaging 1.00
R5723:Krt16 UTSW 11 100248446 missense probably damaging 0.99
R6270:Krt16 UTSW 11 100247203 missense possibly damaging 0.51
R6368:Krt16 UTSW 11 100246676 missense probably damaging 1.00
R7191:Krt16 UTSW 11 100246658 missense probably damaging 1.00
R7314:Krt16 UTSW 11 100247869 missense probably damaging 1.00
R7446:Krt16 UTSW 11 100246784 frame shift probably null
Posted On2014-02-04