Incidental Mutation 'IGL00857:Krt86'
ID 278030
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 # IGL00857
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,454,205 (GRCm39) T181A probably benign Het
Anks3 T A 16: 4,771,793 (GRCm39) H77L possibly damaging Het
Cacna1d A T 14: 30,072,638 (GRCm39) N112K possibly damaging Het
Cd164 A G 10: 41,404,691 (GRCm39) T150A probably benign Het
Cfap57 C T 4: 118,470,120 (GRCm39) probably null Het
Cntnap2 C A 6: 47,026,358 (GRCm39) N61K probably benign Het
Cstdc1 A G 2: 148,624,170 (GRCm39) D48G possibly damaging Het
Cyp4f39 A G 17: 32,708,631 (GRCm39) I393V probably benign Het
Dcaf11 A T 14: 55,798,742 (GRCm39) probably benign Het
Defb7 G A 8: 19,547,594 (GRCm39) R33Q possibly damaging Het
Dmxl2 T C 9: 54,283,604 (GRCm39) Y2743C probably benign Het
Enpp2 A G 15: 54,739,046 (GRCm39) probably null Het
Fam135b T A 15: 71,335,465 (GRCm39) E576D probably benign Het
Gfpt1 T A 6: 87,033,145 (GRCm39) N123K probably damaging Het
Hnmt T C 2: 23,893,795 (GRCm39) D233G probably benign Het
Hsd3b2 T A 3: 98,618,859 (GRCm39) E362V possibly damaging Het
Hsdl2 T A 4: 59,617,735 (GRCm39) N487K probably benign Het
Hspa14 T C 2: 3,503,796 (GRCm39) Y83C probably damaging Het
Itm2b T C 14: 73,602,056 (GRCm39) N214S probably benign Het
Myocd A T 11: 65,069,662 (GRCm39) V726D possibly damaging Het
Ncapg T A 5: 45,833,927 (GRCm39) probably null Het
Nrdc A T 4: 108,911,199 (GRCm39) I774F probably damaging Het
Pot1a T C 6: 25,744,627 (GRCm39) I626V probably benign Het
Prkab2 C T 3: 97,569,659 (GRCm39) A75V possibly damaging Het
Sdr9c7 A G 10: 127,734,728 (GRCm39) Q72R probably benign Het
Slc16a7 A C 10: 125,066,803 (GRCm39) Y279D probably benign Het
Slc8a1 T A 17: 81,955,308 (GRCm39) T577S probably benign Het
Slitrk3 G A 3: 72,957,174 (GRCm39) L533F probably damaging Het
Tent5a C A 9: 85,206,806 (GRCm39) V331L possibly damaging Het
Tmeff1 T C 4: 48,610,435 (GRCm39) V102A probably damaging Het
Ttn G A 2: 76,583,099 (GRCm39) T22598I probably damaging Het
Ube4a C A 9: 44,843,684 (GRCm39) G977W 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
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
IGL00954: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