Incidental Mutation 'IGL01287:Krt81'
ID278247
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: 0.083) question?
Stock #IGL01287
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,257,757 K445E probably damaging Het
1700061G19Rik C T 17: 56,882,203 Q204* probably null Het
Abca15 A T 7: 120,332,858 probably benign Het
Acvr1c A T 2: 58,280,242 C371* probably null Het
AI464131 T A 4: 41,498,923 I236F possibly damaging Het
Brs3 T C X: 57,047,367 probably benign Het
Car14 C T 3: 95,899,559 V198M possibly damaging Het
Cenpc1 G A 5: 86,022,454 R704* probably null Het
Crybg1 C T 10: 43,992,494 R1396H possibly damaging Het
Cubn A G 2: 13,310,566 S3019P probably damaging Het
Cyp2j9 T C 4: 96,583,428 E222G probably benign Het
Defb50 C A 8: 21,831,171 T59K probably benign Het
Dlg3 T C X: 100,807,242 I587T possibly damaging Het
Doc2a C T 7: 126,851,001 R204C probably damaging Het
Galc T C 12: 98,246,244 probably benign Het
Gm8257 A T 14: 44,655,343 F67I probably damaging Het
Hnrnpul1 A T 7: 25,726,898 N509K probably damaging Het
Iars2 T A 1: 185,296,428 I678F possibly damaging Het
Ifit1 A G 19: 34,648,133 E223G possibly damaging Het
Lrp4 C A 2: 91,473,948 D157E probably damaging Het
Ltk T A 2: 119,755,705 T21S probably benign Het
Lvrn A T 18: 46,864,666 probably benign Het
Maob G A X: 16,712,642 A424V probably damaging Het
Myo1g C A 11: 6,515,856 V410F possibly damaging Het
Naxe T C 3: 88,056,674 H250R probably damaging Het
Nek5 T C 8: 22,111,183 N174S possibly damaging Het
Olfr1158 A G 2: 87,990,944 T278A probably benign Het
Olfr131 G T 17: 38,082,107 N290K probably damaging Het
Olfr606 C T 7: 103,451,795 R153W probably damaging Het
Pex1 A G 5: 3,606,027 T285A probably benign Het
Pfas A G 11: 69,001,260 S141P probably benign Het
Pmm1 T C 15: 81,955,744 T127A probably damaging Het
Proc C A 18: 32,123,820 probably benign Het
Ranbp9 T C 13: 43,480,504 E142G probably damaging Het
Recql4 C A 15: 76,709,912 probably benign Het
Robo4 C T 9: 37,413,040 P955S possibly damaging Het
Ryr3 T A 2: 112,709,073 N3274I probably damaging Het
Serpinb10 T C 1: 107,540,882 probably benign Het
Slc9c1 A T 16: 45,584,448 K848* probably null Het
Slfn5 A G 11: 82,956,981 T231A probably damaging Het
Syncrip T C 9: 88,456,607 probably benign Het
Syt16 A T 12: 74,266,739 T480S probably damaging Het
Taf1c G A 8: 119,601,192 T293M probably benign Het
Tbc1d5 T C 17: 50,813,798 D430G possibly damaging Het
Tbx18 T C 9: 87,724,331 T254A probably damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Usp17la T C 7: 104,861,315 S376P probably benign Het
Vmn1r19 A G 6: 57,405,194 D244G probably damaging Het
Vmn1r58 A T 7: 5,411,055 F59I probably benign Het
Vmn2r45 A T 7: 8,485,623 M136K probably benign Het
Vmn2r70 T A 7: 85,569,019 R24* probably null Het
Vmn2r75 T A 7: 86,148,593 I671F probably 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
IGL01304: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
R8460:Krt81 UTSW 15 101463612 missense probably damaging 0.98
Posted On2015-04-16