Incidental Mutation 'IGL02816:Krt25'
ID360810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt25
Ensembl Gene ENSMUSG00000035831
Gene Namekeratin 25
Synonyms4631426H08Rik, mIRSa1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02816
Quality Score
Status
Chromosome11
Chromosomal Location99315516-99322951 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 99318151 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 284 (D284E)
Ref Sequence ENSEMBL: ENSMUSP00000048439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038004]
Predicted Effect probably benign
Transcript: ENSMUST00000038004
AA Change: D284E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000048439
Gene: ENSMUSG00000035831
AA Change: D284E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 35 52 N/A INTRINSIC
Filament 74 389 4.13e-146 SMART
low complexity region 391 403 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutations in this gene have a defect in hair formation resulting in a wavy coat and curly vibrissae. Some alleles may compromise normal growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Caskin1 C A 17: 24,502,170 P495T probably benign Het
Clcn4 A G 7: 7,295,088 C41R probably damaging Het
Etfdh G A 3: 79,622,805 T52M probably damaging Het
Fam227a T C 15: 79,626,296 T386A possibly damaging Het
Gabrr3 T C 16: 59,440,467 probably benign Het
Map1b T C 13: 99,441,755 D130G probably damaging Het
Nlrp3 T A 11: 59,555,782 F785I probably benign Het
Nrn1 C A 13: 36,730,106 probably null Het
Numa1 T A 7: 101,996,100 I311N probably damaging Het
Pkd1 T C 17: 24,594,515 C4010R probably benign Het
Prph A G 15: 99,057,420 M423V probably damaging Het
Rb1cc1 T A 1: 6,262,828 probably benign Het
Ribc2 T G 15: 85,132,905 V48G probably damaging Het
Scyl1 A T 19: 5,770,382 N141K probably damaging Het
Sec23a T A 12: 58,978,545 M497L probably benign Het
Strada C T 11: 106,164,425 probably benign Het
Tas2r144 A T 6: 42,215,605 Y93F probably benign Het
Tmem94 T A 11: 115,788,704 probably null Het
Trpc3 A G 3: 36,651,702 F448S probably damaging Het
Ttc13 A G 8: 124,712,676 I113T possibly damaging Het
Ttc27 T A 17: 74,747,774 probably benign Het
Ttll13 G T 7: 80,253,094 C170F possibly damaging Het
Yes1 C T 5: 32,645,107 T122M probably damaging Het
Other mutations in Krt25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Krt25 APN 11 99318170 missense probably benign 0.28
IGL02415:Krt25 APN 11 99322572 missense probably damaging 1.00
Plush UTSW 11 99322635 missense probably damaging 1.00
Sinuous UTSW 11 99322630 missense probably damaging 0.99
R0138:Krt25 UTSW 11 99322698 missense probably benign 0.00
R0219:Krt25 UTSW 11 99318059 missense probably benign 0.01
R0932:Krt25 UTSW 11 99321283 missense possibly damaging 0.94
R1733:Krt25 UTSW 11 99316552 nonsense probably null
R1855:Krt25 UTSW 11 99318315 missense probably damaging 1.00
R2120:Krt25 UTSW 11 99321197 missense probably benign 0.01
R2504:Krt25 UTSW 11 99317296 nonsense probably null
R3615:Krt25 UTSW 11 99317298 missense possibly damaging 0.64
R3616:Krt25 UTSW 11 99317298 missense possibly damaging 0.64
R4590:Krt25 UTSW 11 99318028 intron probably benign
R6250:Krt25 UTSW 11 99321163 missense probably damaging 1.00
R6331:Krt25 UTSW 11 99317427 missense probably damaging 1.00
R6927:Krt25 UTSW 11 99317379 missense probably damaging 1.00
R7067:Krt25 UTSW 11 99317383 missense probably benign 0.01
R7289:Krt25 UTSW 11 99321272 missense probably benign 0.15
R7360:Krt25 UTSW 11 99317406 missense probably benign 0.01
R8057:Krt25 UTSW 11 99317343 missense probably benign 0.44
R8090:Krt25 UTSW 11 99316590 critical splice acceptor site probably null
Z1176:Krt25 UTSW 11 99322822 missense probably benign 0.44
Posted On2015-12-18