Incidental Mutation 'IGL01638:Krt86'
ID93151
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 #IGL01638
Quality Score
Status
Chromosome15
Chromosomal Location101473478-101479986 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 101475472 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000085365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088049]
Predicted Effect probably benign
Transcript: ENSMUST00000088049
SMART Domains Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Ajap1 A G 4: 153,432,236 V216A possibly damaging Het
Akap7 T A 10: 25,267,425 I124F probably damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Ppil1 C A 17: 29,261,792 K52N probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
Prss55 A G 14: 64,077,187 V178A probably benign Het
S100a7a A G 3: 90,655,530 D8G probably benign Het
Sh3glb2 A G 2: 30,345,850 V310A possibly damaging Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Tcerg1l G A 7: 138,280,076 R295C probably damaging Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null 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
IGL00954:Krt86 APN 15 101473860 missense probably benign 0.00
IGL01107:Krt86 APN 15 101475425 missense probably damaging 1.00
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 On2013-12-09