Incidental Mutation 'IGL00954:Krt86'
ID 278114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt86
Ensembl Gene ENSMUSG00000067614
Gene Name keratin 86
Synonyms Khb4, Krt2-10, Krt2-11, MHb4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00954
Quality Score
Status
Chromosome 15
Chromosomal Location 101371359-101377864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101371741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 104 (H104Y)
Ref Sequence ENSEMBL: ENSMUSP00000085365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088049]
AlphaFold P97861
Predicted Effect probably benign
Transcript: ENSMUST00000088049
AA Change: H104Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: H104Y

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 102 4.6e-15 PFAM
Filament 105 416 6.92e-148 SMART
low complexity region 420 438 N/A INTRINSIC
low complexity region 469 486 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 type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,972,756 (GRCm39) probably benign Het
Alox5 A T 6: 116,431,260 (GRCm39) V56D probably damaging Het
Atp1a2 A G 1: 172,118,201 (GRCm39) S158P probably damaging Het
B3glct T A 5: 149,619,902 (GRCm39) M19K probably benign Het
BC049715 A T 6: 136,817,093 (GRCm39) E111V possibly damaging Het
Casp8ap2 C A 4: 32,645,403 (GRCm39) T1492K probably damaging Het
Cfap221 T C 1: 119,861,939 (GRCm39) E612G probably damaging Het
Cttnbp2 C A 6: 18,381,061 (GRCm39) K868N possibly damaging Het
Dpy19l2 T A 9: 24,494,114 (GRCm39) N672I probably damaging Het
Ei24 A T 9: 36,701,166 (GRCm39) I51N probably damaging Het
Gdi2 T C 13: 3,606,467 (GRCm39) V181A probably benign Het
Ggt1 G A 10: 75,420,697 (GRCm39) R354Q probably benign Het
Hao1 A G 2: 134,340,181 (GRCm39) I370T possibly damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Jag2 G T 12: 112,884,026 (GRCm39) S184R possibly damaging Het
Kctd16 A G 18: 40,391,853 (GRCm39) D147G probably benign Het
Kiss1r T C 10: 79,757,834 (GRCm39) L396P probably damaging Het
Lrrc66 G T 5: 73,765,741 (GRCm39) T434K possibly damaging Het
Macroh2a1 A G 13: 56,222,132 (GRCm39) S340P possibly damaging Het
Mcm5 A T 8: 75,836,740 (GRCm39) N64Y possibly damaging Het
Mroh2b A T 15: 4,932,536 (GRCm39) Y54F probably damaging Het
Or10al6 T A 17: 38,083,505 (GRCm39) N329K probably benign Het
Or7g18 T A 9: 18,787,369 (GRCm39) S249T probably benign Het
Osgep T A 14: 51,153,619 (GRCm39) I320F probably benign Het
Pcdh18 T A 3: 49,710,838 (GRCm39) D159V probably damaging Het
Phf20l1 G A 15: 66,513,757 (GRCm39) V978I probably damaging Het
Phospho1 T A 11: 95,721,909 (GRCm39) V193E probably damaging Het
Pip4k2b T C 11: 97,635,331 (GRCm39) K34E probably damaging Het
Plb1 T C 5: 32,455,858 (GRCm39) probably benign Het
Safb2 A G 17: 56,885,639 (GRCm39) probably null Het
Sgsh T A 11: 119,237,311 (GRCm39) E434D probably benign Het
Tkt C T 14: 30,291,052 (GRCm39) H355Y probably damaging Het
Tmem128 A G 5: 38,419,389 (GRCm39) N47S probably damaging Het
Tmem232 A G 17: 65,807,148 (GRCm39) I15T probably damaging Het
Tns1 A C 1: 73,964,128 (GRCm39) V1501G probably damaging Het
Vmn2r24 G A 6: 123,792,596 (GRCm39) C641Y probably damaging Het
Vmn2r77 A G 7: 86,449,975 (GRCm39) T74A probably benign Het
Zfp820 T C 17: 22,038,860 (GRCm39) Y156C probably damaging Het
Other mutations in Krt86
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Krt86 APN 15 101,374,396 (GRCm39) missense possibly damaging 0.55
IGL00597:Krt86 APN 15 101,374,107 (GRCm39) missense probably benign 0.01
IGL00776:Krt86 APN 15 101,371,741 (GRCm39) missense probably benign 0.00
IGL00800:Krt86 APN 15 101,371,741 (GRCm39) missense probably benign 0.00
IGL00801:Krt86 APN 15 101,371,741 (GRCm39) missense probably benign 0.00
IGL00857:Krt86 APN 15 101,371,741 (GRCm39) missense probably benign 0.00
IGL00902:Krt86 APN 15 101,371,741 (GRCm39) missense probably benign 0.00
IGL00903:Krt86 APN 15 101,371,741 (GRCm39) missense probably benign 0.00
IGL00939:Krt86 APN 15 101,371,741 (GRCm39) missense probably benign 0.00
IGL01107:Krt86 APN 15 101,373,306 (GRCm39) missense probably damaging 1.00
IGL01638:Krt86 APN 15 101,373,353 (GRCm39) splice site probably benign
IGL02711:Krt86 APN 15 101,371,543 (GRCm39) missense probably damaging 1.00
BB009:Krt86 UTSW 15 101,374,473 (GRCm39) missense probably damaging 1.00
BB019:Krt86 UTSW 15 101,374,473 (GRCm39) missense probably damaging 1.00
R0046:Krt86 UTSW 15 101,375,283 (GRCm39) missense probably benign 0.00
R0193:Krt86 UTSW 15 101,377,244 (GRCm39) splice site probably benign
R0242:Krt86 UTSW 15 101,374,454 (GRCm39) nonsense probably null
R0242:Krt86 UTSW 15 101,374,454 (GRCm39) nonsense probably null
R0607:Krt86 UTSW 15 101,377,412 (GRCm39) missense unknown
R2139:Krt86 UTSW 15 101,371,639 (GRCm39) missense probably benign 0.11
R4464:Krt86 UTSW 15 101,371,795 (GRCm39) missense probably damaging 0.99
R4985:Krt86 UTSW 15 101,375,146 (GRCm39) missense probably damaging 0.99
R5195:Krt86 UTSW 15 101,374,814 (GRCm39) missense probably benign 0.10
R5587:Krt86 UTSW 15 101,371,474 (GRCm39) missense probably benign 0.01
R5600:Krt86 UTSW 15 101,374,386 (GRCm39) missense probably benign 0.00
R5729:Krt86 UTSW 15 101,374,429 (GRCm39) missense probably benign 0.18
R5876:Krt86 UTSW 15 101,374,491 (GRCm39) missense probably damaging 0.98
R6169:Krt86 UTSW 15 101,374,170 (GRCm39) missense probably damaging 1.00
R6776:Krt86 UTSW 15 101,374,817 (GRCm39) missense probably benign 0.29
R6990:Krt86 UTSW 15 101,371,714 (GRCm39) missense probably benign 0.03
R7111:Krt86 UTSW 15 101,374,498 (GRCm39) missense possibly damaging 0.90
R7932:Krt86 UTSW 15 101,374,473 (GRCm39) missense probably damaging 1.00
R8462:Krt86 UTSW 15 101,377,284 (GRCm39) missense probably benign 0.00
R8956:Krt86 UTSW 15 101,375,157 (GRCm39) missense probably benign 0.03
Z1177:Krt86 UTSW 15 101,374,778 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16