Incidental Mutation 'IGL02243:Krt16'
ID 286082
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 # IGL02243
Quality Score
Status
Chromosome 11
Chromosomal Location 100136917-100139728 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 100137162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007280]
AlphaFold Q9Z2K1
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Krt16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Krt16 APN 11 100,139,543 (GRCm39) nonsense probably null
IGL01794:Krt16 APN 11 100,138,731 (GRCm39) missense probably benign 0.00
IGL01795:Krt16 APN 11 100,138,550 (GRCm39) splice site probably benign
IGL02221: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 2015-04-16