Incidental Mutation 'IGL02745:Krt16'
ID 306142
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 # IGL02745
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,282 (GRCm39) E167G probably benign Het
Aldh1a1 A G 19: 20,614,028 (GRCm39) probably benign Het
Ankrd44 T C 1: 54,805,950 (GRCm39) H152R probably damaging Het
Bpifb4 T A 2: 153,789,141 (GRCm39) L316Q probably damaging Het
C2cd5 A T 6: 142,987,256 (GRCm39) L155I probably benign Het
Chrdl2 T A 7: 99,670,170 (GRCm39) C98S probably damaging Het
Clnk A G 5: 38,893,662 (GRCm39) S232P probably benign Het
Csf3 A G 11: 98,593,303 (GRCm39) D140G probably damaging Het
Dnah7b T A 1: 46,234,189 (GRCm39) probably benign Het
Fetub T C 16: 22,756,676 (GRCm39) V259A probably damaging Het
Gga2 G T 7: 121,607,592 (GRCm39) R108S probably damaging Het
Hip1r C A 5: 124,129,002 (GRCm39) probably null Het
Hsd17b3 A G 13: 64,234,990 (GRCm39) F62L probably benign Het
Man1a C T 10: 53,853,206 (GRCm39) R304Q probably damaging Het
Med17 A G 9: 15,176,642 (GRCm39) probably benign Het
Mrgprb4 T C 7: 47,848,106 (GRCm39) Y274C probably damaging Het
Myh8 C T 11: 67,188,327 (GRCm39) T996I possibly damaging Het
Niban3 G T 8: 72,057,682 (GRCm39) probably null Het
Nlrp4e T A 7: 23,020,716 (GRCm39) L401Q probably damaging Het
Oas1h G A 5: 120,999,542 (GRCm39) R9Q probably benign Het
Or4c111 A G 2: 88,844,232 (GRCm39) Y59H probably damaging Het
Or4d10b C T 19: 12,036,565 (GRCm39) V184I probably benign Het
Or8g51 T C 9: 38,609,494 (GRCm39) H56R probably damaging Het
Otor A G 2: 142,923,076 (GRCm39) D122G possibly damaging Het
Pcdh18 T A 3: 49,710,340 (GRCm39) Q325L probably damaging Het
Ppfibp1 T C 6: 146,923,852 (GRCm39) probably benign Het
Pramel16 A T 4: 143,677,294 (GRCm39) L95Q probably damaging Het
Prlr T A 15: 10,328,680 (GRCm39) I385N possibly damaging Het
Rap1gds1 A G 3: 138,662,002 (GRCm39) V418A probably damaging Het
Rdh1 A T 10: 127,601,288 (GRCm39) T279S probably benign Het
Slc17a3 C A 13: 24,026,469 (GRCm39) Q13K probably benign Het
Slc22a20 T C 19: 6,022,901 (GRCm39) N414S probably damaging Het
Slc4a1 C A 11: 102,247,093 (GRCm39) C498F probably damaging Het
Sp8 G A 12: 118,813,326 (GRCm39) G394S probably damaging Het
Ssh2 C T 11: 77,346,233 (GRCm39) T1406I probably damaging Het
Stra6 T A 9: 58,059,321 (GRCm39) D561E probably damaging Het
Stxbp5l G A 16: 37,007,016 (GRCm39) Q726* probably null Het
Synpo2 G A 3: 122,907,261 (GRCm39) T685I probably damaging Het
Tasor2 A T 13: 3,635,140 (GRCm39) S556T probably benign Het
Ttc27 A G 17: 75,046,728 (GRCm39) D263G probably benign Het
Ttn G A 2: 76,594,332 (GRCm39) P18793S possibly damaging Het
Vmn2r109 A G 17: 20,761,512 (GRCm39) V615A probably damaging Het
Vmn2r76 T G 7: 85,879,495 (GRCm39) K268N probably benign Het
Zeb2 A G 2: 44,884,487 (GRCm39) probably benign Het
Zfp286 C A 11: 62,671,700 (GRCm39) K124N 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
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