Incidental Mutation 'IGL00801:Krt86'
ID277970
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: 0.143) question?
Stock #IGL00801
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,881,386 T524A possibly damaging Het
Abcb7 T C X: 104,295,978 I562V possibly damaging Het
Anapc4 T A 5: 52,857,211 V472D probably damaging Het
Arhgef37 A G 18: 61,499,834 Y511H probably damaging Het
Atxn3 A G 12: 101,926,508 S316P possibly damaging Het
B3galt1 A T 2: 68,117,976 T12S possibly damaging Het
Cdc14a G T 3: 116,294,844 S394* probably null Het
Celsr3 T C 9: 108,842,576 V2458A probably benign Het
Cyr61 T A 3: 145,648,610 D182V probably damaging Het
Dapk1 C T 13: 60,761,248 T1225I probably benign Het
Fyb A G 15: 6,644,824 K647R possibly damaging Het
Gabra5 C A 7: 57,488,988 W104L probably damaging Het
Gjb6 A T 14: 57,124,041 N254K possibly damaging Het
Golga4 T A 9: 118,538,926 L371Q probably damaging Het
Gucy2g C T 19: 55,233,103 R322Q probably benign Het
Hnf1b C T 11: 83,855,924 A122V probably damaging Het
Insrr C T 3: 87,813,808 L1089F probably damaging Het
Knop1 A G 7: 118,852,644 V284A probably benign Het
Map1b C T 13: 99,430,097 E2039K unknown Het
Myof A G 19: 37,986,073 I206T probably damaging Het
Nf1 A T 11: 79,428,700 probably benign Het
Nol8 A G 13: 49,662,228 D586G probably benign Het
Nudt5 T C 2: 5,866,357 F166S probably damaging Het
Ociad1 T A 5: 73,304,566 Y87N probably damaging Het
Qtrt2 T C 16: 43,881,189 K3E probably damaging Het
Rictor G A 15: 6,794,534 V1627I probably damaging Het
Skint2 A T 4: 112,625,991 M198L possibly damaging Het
Slitrk5 A G 14: 111,680,665 M574V probably benign Het
Thbs1 A G 2: 118,122,973 D957G probably damaging Het
Tmem198b A C 10: 128,803,145 L43R probably damaging Het
Trpa1 A G 1: 14,891,333 M627T probably damaging Het
Zdbf2 T C 1: 63,303,038 F192S possibly damaging Het
Zfp961 T G 8: 71,965,888 M54R 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
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
Posted On2015-04-16