Incidental Mutation 'R8053:Krt16'
ID 619200
Institutional Source Beutler Lab
Gene Symbol Krt16
Ensembl Gene ENSMUSG00000053797
Gene Name keratin 16
Synonyms Krt1-16, K16
MMRRC Submission 067490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R8053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100136917-100139728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100137613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 364 (Y364C)
Ref Sequence ENSEMBL: ENSMUSP00000007280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007280]
AlphaFold Q9Z2K1
Predicted Effect probably damaging
Transcript: ENSMUST00000007280
AA Change: Y364C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797
AA Change: Y364C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C T 12: 18,583,728 (GRCm39) R263* probably null Het
Abca12 G A 1: 71,388,328 (GRCm39) R181* probably null Het
Adar T C 3: 89,654,592 (GRCm39) L908P probably damaging Het
Ankrd55 C T 13: 112,459,687 (GRCm39) R94C probably damaging Het
Aopep A T 13: 63,338,345 (GRCm39) K574* probably null Het
Carf A T 1: 60,167,197 (GRCm39) T177S probably benign Het
Ccdc162 C A 10: 41,520,577 (GRCm39) G693V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chd4 G T 6: 125,105,779 (GRCm39) E1799* probably null Het
Chrna3 T A 9: 54,922,674 (GRCm39) N378I probably benign Het
Clec4a2 T C 6: 123,104,998 (GRCm39) V96A probably benign Het
Cntnap5b T A 1: 100,318,402 (GRCm39) L683Q probably damaging Het
Crisp4 T A 1: 18,194,498 (GRCm39) Q208L probably benign Het
Crocc A G 4: 140,770,230 (GRCm39) probably null Het
Cyp2ab1 T C 16: 20,133,018 (GRCm39) E192G probably benign Het
Cyrib T C 15: 63,813,832 (GRCm39) D155G probably damaging Het
Daglb A G 5: 143,489,024 (GRCm39) K627R probably benign Het
Desi2 G A 1: 178,065,482 (GRCm39) W16* probably null Het
Dtx3l T C 16: 35,759,322 (GRCm39) probably benign Het
Elf2 A G 3: 51,215,551 (GRCm39) V53A possibly damaging Het
Eomes A G 9: 118,309,621 (GRCm39) D325G probably damaging Het
Etl4 A T 2: 20,666,774 (GRCm39) L60F probably damaging Het
Exoc4 A G 6: 33,309,191 (GRCm39) D271G probably benign Het
F5 A G 1: 164,020,338 (GRCm39) I938V probably benign Het
Fdxr T A 11: 115,160,665 (GRCm39) K290M probably benign Het
Fgd5 G A 6: 91,966,425 (GRCm39) S886N probably benign Het
Gm11595 G A 11: 99,662,954 (GRCm39) S242F unknown Het
Gm14322 A T 2: 177,411,424 (GRCm39) Q78L probably damaging Het
Gm8267 A T 14: 44,962,307 (GRCm39) S38T possibly damaging Het
Gpr75 A T 11: 30,841,559 (GRCm39) T155S probably benign Het
Hectd3 T C 4: 116,858,055 (GRCm39) S628P possibly damaging Het
Hrh2 A G 13: 54,368,104 (GRCm39) T27A probably benign Het
Kif16b G A 2: 142,695,634 (GRCm39) R157C probably damaging Het
Lrrc37 T A 11: 103,495,392 (GRCm39) K2809I unknown Het
Map2k5 T A 9: 63,250,707 (GRCm39) N95I probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mthfd1 T A 12: 76,327,282 (GRCm39) D123E probably damaging Het
Muc2 A T 7: 141,284,575 (GRCm39) Y827F probably benign Het
Myh15 T A 16: 48,963,302 (GRCm39) M1081K possibly damaging Het
Nbeal1 A G 1: 60,318,954 (GRCm39) T1998A probably damaging Het
Neb T A 2: 52,176,029 (GRCm39) T1477S possibly damaging Het
Nox4 C A 7: 87,019,255 (GRCm39) P416Q probably damaging Het
Or10ak7 A G 4: 118,791,308 (GRCm39) S246P probably damaging Het
Or1e31 T C 11: 73,689,822 (GRCm39) T254A probably benign Het
Or2j3 A T 17: 38,616,101 (GRCm39) F84I probably benign Het
Or4c123 A T 2: 89,127,540 (GRCm39) F25I possibly damaging Het
Or5g23 T C 2: 85,439,234 (GRCm39) T7A probably damaging Het
Pcdhga4 A G 18: 37,819,308 (GRCm39) K286E probably benign Het
Pde10a A G 17: 9,193,604 (GRCm39) T679A probably benign Het
Phc2 C T 4: 128,603,433 (GRCm39) Q188* probably null Het
Pramel12 C A 4: 143,144,208 (GRCm39) Q185K probably benign Het
Prdm15 A G 16: 97,636,807 (GRCm39) M170T probably benign Het
Rab20 G T 8: 11,504,443 (GRCm39) Q86K probably damaging Het
Rev1 T C 1: 38,102,222 (GRCm39) I714V possibly damaging Het
Rexo2 A G 9: 48,386,418 (GRCm39) probably null Het
Rnf213 A G 11: 119,293,473 (GRCm39) K75E Het
Sdk2 C T 11: 113,745,177 (GRCm39) R706Q probably damaging Het
Sema3c C T 5: 17,860,020 (GRCm39) T95I probably benign Het
Sh3rf2 T A 18: 42,286,087 (GRCm39) S527T probably damaging Het
Sis A T 3: 72,856,901 (GRCm39) Y434* probably null Het
Slc16a6 G A 11: 109,349,395 (GRCm39) T222I probably damaging Het
Smad6 A G 9: 63,927,789 (GRCm39) L173P probably damaging Het
Sugct T A 13: 17,476,554 (GRCm39) N310I probably damaging Het
Syne1 T A 10: 5,002,658 (GRCm39) K259* probably null Het
Taar6 A G 10: 23,861,144 (GRCm39) V134A possibly damaging Het
Tmem199 A G 11: 78,398,612 (GRCm39) I184T possibly damaging Het
Tnrc18 G T 5: 142,736,385 (GRCm39) D1530E unknown Het
Tnxb G A 17: 34,923,153 (GRCm39) V2579M probably damaging Het
Vangl2 A G 1: 171,832,303 (GRCm39) F518L probably damaging Het
Vmn2r40 T C 7: 8,911,245 (GRCm39) T683A Het
Wapl C T 14: 34,414,278 (GRCm39) T380I probably damaging Het
Zfp874b A T 13: 67,622,217 (GRCm39) H360Q 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
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
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
Predicted Primers PCR Primer
(F):5'- GACTCAGGGTCAACTCACTG -3'
(R):5'- AAGCCTGAATGTTTGGGAAAC -3'

Sequencing Primer
(F):5'- AGGGTCAACTCACTGGATATTCTCG -3'
(R):5'- TTCAGCAGAGACAGAGGT -3'
Posted On 2020-01-23