Incidental Mutation 'IGL01319:Krt81'
ID278271
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: 0.088) question?
Stock #IGL01319
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
Abhd18 T A 3: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
Emid1 C T 11: 5,143,859 C96Y probably damaging Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Fbxw14 T C 9: 109,278,791 K172E probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Gtpbp4 A T 13: 8,985,260 N354K probably benign Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Ppp2r2c T A 5: 36,947,121 S282T possibly damaging Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rnf20 T G 4: 49,649,326 D443E probably damaging Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tbxas1 A G 6: 39,017,973 I178V probably benign Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Triml1 A G 8: 43,141,397 probably benign Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K 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
IGL01304: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
R8460:Krt81 UTSW 15 101463612 missense probably damaging 0.98
Posted On2015-04-16