Incidental Mutation 'IGL02291:Krt17'
ID 290320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt17
Ensembl Gene ENSMUSG00000035557
Gene Name keratin 17
Synonyms Krt1-17, K17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02291
Quality Score
Status
Chromosome 11
Chromosomal Location 100256217-100261029 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100256493 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 404 (V404E)
Ref Sequence ENSEMBL: ENSMUSP00000079699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080893]
AlphaFold Q9QWL7
Predicted Effect probably benign
Transcript: ENSMUST00000080893
AA Change: V404E

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079699
Gene: ENSMUSG00000035557
AA Change: V404E

DomainStartEndE-ValueType
Filament 83 394 9.36e-177 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the type I 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 required for the normal growth of hair follicles and may act in psoriasis as an immunopathogenic autoantigen. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display age- and strain-dependent alopecia associated with frequent absence of vibrissae, increased hair fragility, abnormal hair cycling, altered hair follicle morphology, and apoptosis in matrix cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF366264 T A 8: 13,837,704 N129I probably benign Het
Arhgap10 T A 8: 77,382,715 probably benign Het
Cfap161 C T 7: 83,791,639 G135D probably benign Het
Cpne1 A G 2: 156,078,420 V179A probably damaging Het
Cpsf1 A T 15: 76,602,821 I219N probably damaging Het
Creb3l4 T G 3: 90,241,983 R139S probably benign Het
Fer1l4 T C 2: 156,019,538 K1929E probably damaging Het
Gm5431 A G 11: 48,888,964 L655P probably damaging Het
Igsf3 T G 3: 101,439,529 H613Q probably damaging Het
Kcnab1 T C 3: 65,357,082 Y251H possibly damaging Het
Kmt2d T C 15: 98,865,492 probably benign Het
Lipo2 A G 19: 33,745,792 I199T possibly damaging Het
Mks1 T A 11: 87,859,667 probably benign Het
Nlrp1a A T 11: 71,122,589 probably null Het
Nup210 T C 6: 91,101,268 D100G probably damaging Het
Olfr108 G A 17: 37,446,285 V255I possibly damaging Het
Olfr1393 T A 11: 49,280,985 I279N probably damaging Het
Olfr532 A T 7: 140,419,287 L162Q probably damaging Het
Olfr871 T C 9: 20,212,802 I151T probably benign Het
Psmd5 A G 2: 34,857,799 V282A probably benign Het
Rasal3 A T 17: 32,393,737 probably benign Het
Rnf10 T C 5: 115,260,196 N93D probably damaging Het
Slc7a9 G A 7: 35,457,014 G294R probably damaging Het
Taf7 C T 18: 37,643,362 G51R possibly damaging Het
Tas2r126 G A 6: 42,435,287 M251I probably benign Het
Trim33 T C 3: 103,326,865 F473S probably damaging Het
Vmn1r127 A G 7: 21,319,074 L263P possibly damaging Het
Vmn1r234 G A 17: 21,228,931 V36I probably benign Het
Vmn2r84 T A 10: 130,390,748 H407L probably damaging Het
Other mutations in Krt17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Krt17 APN 11 100260631 missense probably damaging 1.00
IGL03392:Krt17 APN 11 100259735 missense possibly damaging 0.73
R0189:Krt17 UTSW 11 100260619 missense possibly damaging 0.95
R0238:Krt17 UTSW 11 100260878 nonsense probably null
R0238:Krt17 UTSW 11 100260878 nonsense probably null
R0239:Krt17 UTSW 11 100260878 nonsense probably null
R0239:Krt17 UTSW 11 100260878 nonsense probably null
R1448:Krt17 UTSW 11 100257539 missense possibly damaging 0.69
R1510:Krt17 UTSW 11 100257539 missense possibly damaging 0.69
R4029:Krt17 UTSW 11 100257523 missense probably damaging 1.00
R4235:Krt17 UTSW 11 100257868 missense possibly damaging 0.90
R4888:Krt17 UTSW 11 100256479 missense probably benign 0.06
R5281:Krt17 UTSW 11 100260701 nonsense probably null
R7213:Krt17 UTSW 11 100258530 missense probably benign 0.09
R7238:Krt17 UTSW 11 100257787 missense probably benign 0.19
R7304:Krt17 UTSW 11 100257337 missense probably benign
R7438:Krt17 UTSW 11 100258465 missense probably damaging 1.00
R7796:Krt17 UTSW 11 100260872 missense probably benign 0.23
R9140:Krt17 UTSW 11 100257650 missense possibly damaging 0.74
R9436:Krt17 UTSW 11 100257499 missense probably damaging 1.00
Z1176:Krt17 UTSW 11 100260923 missense probably benign 0.23
Z1177:Krt17 UTSW 11 100259196 missense probably damaging 1.00
Z1177:Krt17 UTSW 11 100259711 missense possibly damaging 0.86
Posted On 2015-04-16