Incidental Mutation 'IGL00597:Krt86'
ID11702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt86
Ensembl Gene ENSMUSG00000067614
Gene Namekeratin 86
SynonymsKrt2-10, Khb4, Krt2-11, MHb4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL00597
Quality Score
Status
Chromosome15
Chromosomal Location101473478-101479986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101476226 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 222 (K222R)
Ref Sequence ENSEMBL: ENSMUSP00000085365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088049]
Predicted Effect probably benign
Transcript: ENSMUST00000088049
AA Change: K222R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: K222R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230173
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdkrb1 A T 12: 105,604,951 I259F probably damaging Het
Chac1 A G 2: 119,353,559 Y214C probably benign Het
Ctnnd2 A C 15: 30,647,141 T328P possibly damaging Het
Gart A G 16: 91,638,789 S179P possibly damaging Het
Gbp9 A G 5: 105,094,498 V125A probably damaging Het
Gpc6 T A 14: 117,951,234 S427T probably benign Het
Ifna7 A T 4: 88,816,438 I71F probably benign Het
Kcnip1 A T 11: 33,643,289 probably benign Het
Kcnip1 A T 11: 33,643,294 probably null Het
Nacad G A 11: 6,600,921 P757S probably benign Het
Obox7 C A 7: 14,664,032 probably benign Het
Pam T A 1: 97,834,444 T805S probably benign Het
Pgam2 G A 11: 5,803,442 R83C probably damaging Het
Prtg T A 9: 72,809,644 I89N probably damaging Het
Rpusd4 T A 9: 35,268,442 V77E probably benign Het
Sirpb1a T C 3: 15,416,917 Y50C probably damaging Het
Whamm T C 7: 81,578,266 V87A probably damaging Het
Other mutations in Krt86
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Krt86 APN 15 101476515 missense possibly damaging 0.55
IGL00776:Krt86 APN 15 101473860 missense probably benign 0.00
IGL00800:Krt86 APN 15 101473860 missense probably benign 0.00
IGL00801:Krt86 APN 15 101473860 missense probably benign 0.00
IGL00857:Krt86 APN 15 101473860 missense probably benign 0.00
IGL00902:Krt86 APN 15 101473860 missense probably benign 0.00
IGL00903:Krt86 APN 15 101473860 missense probably benign 0.00
IGL00939:Krt86 APN 15 101473860 missense probably benign 0.00
IGL00954:Krt86 APN 15 101473860 missense probably benign 0.00
IGL01107:Krt86 APN 15 101475425 missense probably damaging 1.00
IGL01638:Krt86 APN 15 101475472 splice site probably benign
IGL02711:Krt86 APN 15 101473662 missense probably damaging 1.00
R0046:Krt86 UTSW 15 101477402 missense probably benign 0.00
R0193:Krt86 UTSW 15 101479363 splice site probably benign
R0242:Krt86 UTSW 15 101476573 nonsense probably null
R0242:Krt86 UTSW 15 101476573 nonsense probably null
R0607:Krt86 UTSW 15 101479531 missense unknown
R2139:Krt86 UTSW 15 101473758 missense probably benign 0.11
R4464:Krt86 UTSW 15 101473914 missense probably damaging 0.99
R4985:Krt86 UTSW 15 101477265 missense probably damaging 0.99
R5195:Krt86 UTSW 15 101476933 missense probably benign 0.10
R5587:Krt86 UTSW 15 101473593 missense probably benign 0.01
R5600:Krt86 UTSW 15 101476505 missense probably benign 0.00
R5729:Krt86 UTSW 15 101476548 missense probably benign 0.18
R5876:Krt86 UTSW 15 101476610 missense probably damaging 0.98
R6169:Krt86 UTSW 15 101476289 missense probably damaging 1.00
R6776:Krt86 UTSW 15 101476936 missense probably benign 0.29
R6990:Krt86 UTSW 15 101473833 missense probably benign 0.03
R7111:Krt86 UTSW 15 101476617 missense possibly damaging 0.90
Z1177:Krt86 UTSW 15 101476897 missense probably damaging 0.98
Posted On2012-12-06