Incidental Mutation 'IGL02867:Krt16'
ID362366
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: 0.089) question?
Stock #IGL02867
Quality Score
Status
Chromosome11
Chromosomal Location100246091-100248902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100247576 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 249 (K249E)
Ref Sequence ENSEMBL: ENSMUSP00000007280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007280]
Predicted Effect probably damaging
Transcript: ENSMUST00000007280
AA Change: K249E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797
AA Change: K249E

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik C T 10: 82,283,820 S482N probably damaging Het
Abcf2 T A 5: 24,571,151 Y310F probably benign Het
Adarb1 C T 10: 77,313,541 V371I probably benign Het
Antxr2 G T 5: 97,977,650 H249Q probably benign Het
Arel1 A T 12: 84,934,323 N303K probably benign Het
Bloc1s6 T C 2: 122,742,684 Y60H probably damaging Het
Ccdc125 A T 13: 100,684,282 probably benign Het
Cxcl16 A T 11: 70,459,066 Y45N possibly damaging Het
Dnajb3 T A 1: 88,205,527 Q51L probably benign Het
Ear10 A G 14: 43,923,269 F34L probably damaging Het
Fgf11 A G 11: 69,799,672 S100P possibly damaging Het
Fpgs G A 2: 32,685,879 probably benign Het
Fyb A T 15: 6,580,046 Q33H probably damaging Het
Ints3 G T 3: 90,392,836 H925N probably damaging Het
Lrp2 A T 2: 69,552,450 S30R possibly damaging Het
Naa35 T C 13: 59,608,854 probably benign Het
Olfr381 A G 11: 73,485,991 Y278H probably damaging Het
Olfr743 A G 14: 50,533,513 I34V probably benign Het
Olfr971 A G 9: 39,840,237 M268V probably benign Het
Osbpl6 A G 2: 76,595,870 probably benign Het
Pramel6 A T 2: 87,510,392 Q356L probably damaging Het
Prima1 A G 12: 103,197,316 V132A probably benign Het
Psme1 A G 14: 55,579,926 probably benign Het
Rdh11 A G 12: 79,189,054 V40A possibly damaging Het
Rin1 C T 19: 5,053,170 R485C probably damaging Het
Rnf40 C A 7: 127,591,429 S255* probably null Het
Spata24 C A 18: 35,656,752 R194L probably benign Het
Tas1r1 A T 4: 152,028,278 S773T probably damaging Het
Trdv5 G T 14: 54,148,972 probably benign Het
Trpc3 A C 3: 36,640,701 D701E probably benign Het
Vim A G 2: 13,580,680 R424G probably damaging Het
Vmn1r216 A C 13: 23,099,479 T111P probably damaging Het
Zbtb26 A C 2: 37,436,249 N247K probably benign Het
Zfp629 T G 7: 127,610,031 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
IGL01795:Krt16 APN 11 100247724 splice site probably benign
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
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 On2015-12-18