Incidental Mutation 'IGL01304:Krt81'
ID278262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt81
Ensembl Gene ENSMUSG00000067615
Gene Namekeratin 81
SynonymsKrt2-19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01304
Quality Score
Status
Chromosome15
Chromosomal Location101459061-101463751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 101463388 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 104 (H104Y)
Ref Sequence ENSEMBL: ENSMUSP00000056525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061185]
Predicted Effect probably benign
Transcript: ENSMUST00000061185
AA Change: H104Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: H104Y

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 102 5.6e-15 PFAM
Filament 105 416 6.92e-148 SMART
low complexity region 424 438 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230541
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Krt81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Krt81 APN 15 101460278 missense probably benign 0.01
IGL01012:Krt81 APN 15 101461019 missense probably benign 0.05
IGL01287:Krt81 APN 15 101463388 missense probably benign 0.00
IGL01319:Krt81 APN 15 101463388 missense probably benign 0.00
IGL01403:Krt81 APN 15 101463388 missense probably benign 0.00
PIT4508001:Krt81 UTSW 15 101462725 missense probably damaging 1.00
R0083:Krt81 UTSW 15 101463465 missense probably damaging 1.00
R0097:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0099:Krt81 UTSW 15 101463521 nonsense probably null
R0110:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0112:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0196:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0449:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0450:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0482:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0510:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0511:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0512:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0514:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0533:Krt81 UTSW 15 101461389 missense probably benign 0.42
R0639:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0674:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0692:Krt81 UTSW 15 101460172 missense possibly damaging 0.91
R0737:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R1458:Krt81 UTSW 15 101460317 missense probably benign 0.34
R1824:Krt81 UTSW 15 101460139 missense probably damaging 0.98
R1991:Krt81 UTSW 15 101462554 missense probably benign 0.01
R2338:Krt81 UTSW 15 101463336 missense probably benign 0.25
R4169:Krt81 UTSW 15 101461312 missense probably benign
R4170:Krt81 UTSW 15 101461312 missense probably benign
R5267:Krt81 UTSW 15 101459459 missense probably benign
R5903:Krt81 UTSW 15 101460202 missense probably damaging 1.00
R6306:Krt81 UTSW 15 101459523 missense probably benign 0.01
R7055:Krt81 UTSW 15 101461125 missense probably benign 0.43
R7069:Krt81 UTSW 15 101460728 missense possibly damaging 0.75
R7191:Krt81 UTSW 15 101460229 missense probably damaging 1.00
R7441:Krt81 UTSW 15 101461370 missense possibly damaging 0.95
R7727:Krt81 UTSW 15 101459567 missense probably damaging 1.00
R7728:Krt81 UTSW 15 101460206 missense probably damaging 1.00
R7733:Krt81 UTSW 15 101463514 missense probably damaging 0.96
Posted On2015-04-16