Incidental Mutation 'IGL02457:Krt16'
ID 294469
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 # IGL02457
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,136,127 (GRCm39) D343G probably benign Het
Acot10 T C 15: 20,666,229 (GRCm39) S171G possibly damaging Het
Actr3b T C 5: 26,054,160 (GRCm39) probably null Het
Adamts17 T C 7: 66,677,562 (GRCm39) M492T probably damaging Het
Akap4 A C X: 6,943,707 (GRCm39) N670T probably benign Het
Atrip A G 9: 108,894,299 (GRCm39) S55P possibly damaging Het
Bend3 A T 10: 43,385,946 (GRCm39) E113V probably damaging Het
Ccdc158 A C 5: 92,797,907 (GRCm39) I411S probably damaging Het
Cfap97 G T 8: 46,623,315 (GRCm39) C235F possibly damaging Het
Chil4 T C 3: 106,121,715 (GRCm39) N45D probably benign Het
Cripto C T 9: 110,771,691 (GRCm39) C32Y probably damaging Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Defb38 T C 8: 19,076,552 (GRCm39) probably benign Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Ecsit A G 9: 21,989,500 (GRCm39) S14P probably damaging Het
Eif3l T C 15: 78,962,296 (GRCm39) F106L probably benign Het
Erich5 G T 15: 34,470,999 (GRCm39) G76V probably damaging Het
Evpl A G 11: 116,120,939 (GRCm39) L432P possibly damaging Het
Fbxw10 T C 11: 62,765,808 (GRCm39) F698L probably damaging Het
Frem2 A T 3: 53,428,470 (GRCm39) S2866T probably damaging Het
Fuca1 G A 4: 135,662,073 (GRCm39) V334I probably benign Het
Hprt1 T A X: 52,091,010 (GRCm39) H60Q probably benign Het
Kirrel2 T C 7: 30,152,165 (GRCm39) N481S probably damaging Het
Lilrb4b T A 10: 51,357,334 (GRCm39) Y57N probably benign Het
Lix1l A G 3: 96,521,792 (GRCm39) Y126C probably damaging Het
Lox T C 18: 52,654,388 (GRCm39) D347G probably damaging Het
Mak16 C T 8: 31,654,753 (GRCm39) R147Q possibly damaging Het
Ndst2 G A 14: 20,779,622 (GRCm39) A206V possibly damaging Het
Or1ak2 A T 2: 36,827,760 (GRCm39) I210F probably damaging Het
Or2q1 T A 6: 42,795,176 (GRCm39) I257N probably damaging Het
Phldb1 T C 9: 44,627,771 (GRCm39) M225V probably benign Het
Pofut1 C T 2: 153,090,516 (GRCm39) Q137* probably null Het
Polr2a T C 11: 69,634,076 (GRCm39) probably benign Het
Prdm5 T A 6: 65,858,100 (GRCm39) L388Q probably damaging Het
Rad51c A G 11: 87,271,681 (GRCm39) S344P possibly damaging Het
Scart1 G A 7: 139,800,308 (GRCm39) G30S probably benign Het
Sdk1 C T 5: 141,938,771 (GRCm39) P398L probably damaging Het
Sec63 G A 10: 42,677,729 (GRCm39) probably benign Het
Sgo1 A T 17: 53,983,989 (GRCm39) L463Q probably damaging Het
Slc5a6 A G 5: 31,198,002 (GRCm39) L291P probably damaging Het
Smarcb1 T C 10: 75,757,205 (GRCm39) T9A probably benign Het
Sp3 A G 2: 72,801,813 (GRCm39) W67R probably damaging Het
Ssxb9 A C X: 21,041,234 (GRCm39) S23A probably benign Het
Syne1 A G 10: 5,292,167 (GRCm39) L1367S probably damaging Het
Tbc1d23 T A 16: 56,990,754 (GRCm39) I690F probably damaging Het
Tmed5 A T 5: 108,272,416 (GRCm39) S227R probably benign Het
Tnrc6c T A 11: 117,613,803 (GRCm39) S814T probably benign Het
Trbv2 C T 6: 41,024,905 (GRCm39) T107I probably benign Het
Trpm6 T C 19: 18,803,155 (GRCm39) V866A probably damaging Het
Trpm6 A T 19: 18,804,762 (GRCm39) K905* probably null Het
Ttn A G 2: 76,539,654 (GRCm39) V34444A probably benign Het
Vmn1r86 C T 7: 12,836,707 (GRCm39) M56I probably benign Het
Vmn2r17 A C 5: 109,601,012 (GRCm39) D770A probably damaging Het
Wnk4 T C 11: 101,160,389 (GRCm39) probably benign Het
Xaf1 T C 11: 72,194,257 (GRCm39) M46T possibly 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
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
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