Incidental Mutation 'IGL00954:Krt86'
ID278114
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: 0.069) question?
Stock #IGL00954
Quality Score
Status
Chromosome15
Chromosomal Location101473478-101479986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101473860 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 104 (H104Y)
Ref Sequence ENSEMBL: ENSMUSP00000085365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088049]
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: 61,839,685 probably benign Het
Alox5 A T 6: 116,454,299 V56D probably damaging Het
Atp1a2 A G 1: 172,290,634 S158P probably damaging Het
B3glct T A 5: 149,696,437 M19K probably benign Het
BC049715 A T 6: 136,840,095 E111V possibly damaging Het
Casp8ap2 C A 4: 32,645,403 T1492K probably damaging Het
Cfap221 T C 1: 119,934,209 E612G probably damaging Het
Cttnbp2 C A 6: 18,381,062 K868N possibly damaging Het
Dpy19l2 T A 9: 24,582,818 N672I probably damaging Het
Ei24 A T 9: 36,789,870 I51N probably damaging Het
Gdi2 T C 13: 3,556,467 V181A probably benign Het
Ggt1 G A 10: 75,584,863 R354Q probably benign Het
H2afy A G 13: 56,074,319 S340P possibly damaging Het
Hao1 A G 2: 134,498,261 I370T possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Jag2 G T 12: 112,920,406 S184R possibly damaging Het
Kctd16 A G 18: 40,258,800 D147G probably benign Het
Kiss1r T C 10: 79,922,000 L396P probably damaging Het
Lrrc66 G T 5: 73,608,398 T434K possibly damaging Het
Mcm5 A T 8: 75,110,112 N64Y possibly damaging Het
Mroh2b A T 15: 4,903,054 Y54F probably damaging Het
Olfr122 T A 17: 37,772,614 N329K probably benign Het
Olfr830 T A 9: 18,876,073 S249T probably benign Het
Osgep T A 14: 50,916,162 I320F probably benign Het
Pcdh18 T A 3: 49,756,389 D159V probably damaging Het
Phf20l1 G A 15: 66,641,908 V978I probably damaging Het
Phospho1 T A 11: 95,831,083 V193E probably damaging Het
Pip4k2b T C 11: 97,744,505 K34E probably damaging Het
Plb1 T C 5: 32,298,514 probably benign Het
Safb2 A G 17: 56,578,639 probably null Het
Sgsh T A 11: 119,346,485 E434D probably benign Het
Tkt C T 14: 30,569,095 H355Y probably damaging Het
Tmem128 A G 5: 38,262,045 N47S probably damaging Het
Tmem232 A G 17: 65,500,153 I15T probably damaging Het
Tns1 A C 1: 73,924,969 V1501G probably damaging Het
Vmn2r24 G A 6: 123,815,637 C641Y probably damaging Het
Vmn2r77 A G 7: 86,800,767 T74A probably benign Het
Zfp820 T C 17: 21,819,879 Y156C probably damaging Het
Other mutations in Krt86
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Krt86 APN 15 101476515 missense possibly damaging 0.55
IGL00597:Krt86 APN 15 101476226 missense probably benign 0.01
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
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
BB009:Krt86 UTSW 15 101476592 missense probably damaging 1.00
BB019:Krt86 UTSW 15 101476592 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
R7932:Krt86 UTSW 15 101476592 missense probably damaging 1.00
R8462:Krt86 UTSW 15 101479403 missense probably benign 0.00
Z1177:Krt86 UTSW 15 101476897 missense probably damaging 0.98
Posted On2015-04-16