Incidental Mutation 'IGL00801:Krt86'
ID 277970
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 # IGL00801
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,928,160 (GRCm39) T524A possibly damaging Het
Abcb7 T C X: 103,339,584 (GRCm39) I562V possibly damaging Het
Anapc4 T A 5: 53,014,553 (GRCm39) V472D probably damaging Het
Arhgef37 A G 18: 61,632,905 (GRCm39) Y511H probably damaging Het
Atxn3 A G 12: 101,892,767 (GRCm39) S316P possibly damaging Het
B3galt1 A T 2: 67,948,320 (GRCm39) T12S possibly damaging Het
Ccn1 T A 3: 145,354,365 (GRCm39) D182V probably damaging Het
Cdc14a G T 3: 116,088,493 (GRCm39) S394* probably null Het
Celsr3 T C 9: 108,719,775 (GRCm39) V2458A probably benign Het
Dapk1 C T 13: 60,909,062 (GRCm39) T1225I probably benign Het
Fyb1 A G 15: 6,674,305 (GRCm39) K647R possibly damaging Het
Gabra5 C A 7: 57,138,736 (GRCm39) W104L probably damaging Het
Gjb6 A T 14: 57,361,498 (GRCm39) N254K possibly damaging Het
Golga4 T A 9: 118,367,994 (GRCm39) L371Q probably damaging Het
Gucy2g C T 19: 55,221,535 (GRCm39) R322Q probably benign Het
Hnf1b C T 11: 83,746,750 (GRCm39) A122V probably damaging Het
Insrr C T 3: 87,721,115 (GRCm39) L1089F probably damaging Het
Knop1 A G 7: 118,451,867 (GRCm39) V284A probably benign Het
Map1b C T 13: 99,566,605 (GRCm39) E2039K unknown Het
Myof A G 19: 37,974,521 (GRCm39) I206T probably damaging Het
Nf1 A T 11: 79,319,526 (GRCm39) probably benign Het
Nol8 A G 13: 49,815,704 (GRCm39) D586G probably benign Het
Nudt5 T C 2: 5,871,168 (GRCm39) F166S probably damaging Het
Ociad1 T A 5: 73,461,909 (GRCm39) Y87N probably damaging Het
Qtrt2 T C 16: 43,701,552 (GRCm39) K3E probably damaging Het
Rictor G A 15: 6,824,015 (GRCm39) V1627I probably damaging Het
Skint2 A T 4: 112,483,188 (GRCm39) M198L possibly damaging Het
Slitrk5 A G 14: 111,918,097 (GRCm39) M574V probably benign Het
Thbs1 A G 2: 117,953,454 (GRCm39) D957G probably damaging Het
Tmem198b A C 10: 128,639,014 (GRCm39) L43R probably damaging Het
Trpa1 A G 1: 14,961,557 (GRCm39) M627T probably damaging Het
Zdbf2 T C 1: 63,342,197 (GRCm39) F192S possibly damaging Het
Zfp961 T G 8: 72,719,732 (GRCm39) M54R 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
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
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