Incidental Mutation 'IGL02410:Krt16'
ID292277
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: 0.092) question?
Stock #IGL02410
Quality Score
Status
Chromosome11
Chromosomal Location100246091-100248902 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 100246336 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007280]
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 G A 1: 165,510,408 C197Y probably damaging Het
Ano2 A G 6: 125,815,533 probably null Het
Aqr A G 2: 114,136,917 V539A possibly damaging Het
Bnip3 C A 7: 138,898,799 G21C probably damaging Het
Cul1 T A 6: 47,485,014 M37K probably damaging Het
Dazl T C 17: 50,293,398 probably benign Het
Dsg2 A G 18: 20,602,132 T1056A probably benign Het
Ewsr1 A G 11: 5,093,863 probably benign Het
Fam167b G A 4: 129,578,218 A53V probably benign Het
Fat3 T C 9: 15,997,845 Y2287C probably damaging Het
Gm597 A G 1: 28,778,631 S107P probably benign Het
H2-M10.3 A T 17: 36,366,536 H283Q probably damaging Het
Hectd2 C T 19: 36,595,213 R39* probably null Het
Hnrnph3 A G 10: 63,015,724 probably benign Het
Hps4 T C 5: 112,370,227 V362A probably benign Het
Igkv9-120 A C 6: 68,050,043 probably benign Het
Lamc3 A G 2: 31,905,965 T417A probably damaging Het
Loxhd1 T C 18: 77,402,952 V1307A probably benign Het
Mpdz T C 4: 81,297,493 E1511G probably benign Het
Nprl3 A T 11: 32,267,539 M1K probably null Het
Olfr1501 A G 19: 13,839,131 I14T probably benign Het
Ppp1r15a A G 7: 45,524,055 V443A probably damaging Het
Psmd1 T G 1: 86,077,437 L198V probably damaging Het
Rapgef4 A T 2: 72,226,594 I566F possibly damaging Het
Rbbp8 T A 18: 11,732,212 D719E probably damaging Het
Siah2 T C 3: 58,676,047 R273G probably damaging Het
Siglecg C T 7: 43,408,829 P47S probably damaging Het
Sox6 A G 7: 115,486,744 S621P probably damaging Het
Ttn C A 2: 76,724,934 A30576S probably benign Het
Ttyh1 A G 7: 4,133,899 probably benign Het
Ush2a C T 1: 188,915,997 R4600C probably damaging Het
Usp36 C T 11: 118,276,185 V289M probably damaging 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
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
IGL02867:Krt16 APN 11 100247576 missense probably damaging 1.00
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
Posted On2015-04-16