Incidental Mutation 'R0607:Krt86'
ID 54333
Institutional Source Beutler Lab
Gene Symbol Krt86
Ensembl Gene ENSMUSG00000067614
Gene Name keratin 86
Synonyms Khb4, Krt2-10, Krt2-11, MHb4
MMRRC Submission 038796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0607 (G1)
Quality Score 90
Status Not validated
Chromosome 15
Chromosomal Location 101371359-101377864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101377412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 479 (C479S)
Ref Sequence ENSEMBL: ENSMUSP00000085365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088049]
AlphaFold P97861
Predicted Effect unknown
Transcript: ENSMUST00000088049
AA Change: C479S
SMART Domains Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: C479S

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
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 95.1%
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: 147 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,288,625 (GRCm39) E146G probably benign Het
Abca4 G A 3: 121,950,081 (GRCm39) G594S probably damaging Het
Acacb T C 5: 114,338,362 (GRCm39) Y726H probably damaging Het
Adam20 T A 8: 41,248,517 (GRCm39) M209K probably benign Het
Adam29 A G 8: 56,326,310 (GRCm39) V48A probably damaging Het
Adss2 A G 1: 177,595,253 (GRCm39) V429A possibly damaging Het
Aff1 T C 5: 103,976,320 (GRCm39) S481P probably damaging Het
Akr1c19 G A 13: 4,288,459 (GRCm39) A146T probably benign Het
Ankhd1 G T 18: 36,773,333 (GRCm39) V59F probably damaging Het
Ankmy1 T G 1: 92,816,397 (GRCm39) Y239S probably damaging Het
Ankrd24 G T 10: 81,474,142 (GRCm39) C19F probably damaging Het
Apaf1 T C 10: 90,845,065 (GRCm39) H1002R probably damaging Het
Apc2 T C 10: 80,149,935 (GRCm39) I1663T probably benign Het
Apcdd1 A G 18: 63,084,967 (GRCm39) N388S possibly damaging Het
Arap2 G A 5: 62,763,474 (GRCm39) P1557S possibly damaging Het
Armc2 T A 10: 41,798,691 (GRCm39) H706L probably benign Het
Arrb1 T C 7: 99,237,403 (GRCm39) probably null Het
Atl3 T C 19: 7,507,031 (GRCm39) probably null Het
B9d2 A G 7: 25,382,757 (GRCm39) T44A probably damaging Het
Btbd3 C T 2: 138,125,736 (GRCm39) R307W possibly damaging Het
C1galt1 T C 6: 7,871,193 (GRCm39) I343T probably benign Het
Cacna1a A G 8: 85,356,460 (GRCm39) D1901G probably damaging Het
Ccdc42 C T 11: 68,488,536 (GRCm39) Q312* probably null Het
Cdh18 T C 15: 23,410,876 (GRCm39) Y454H probably benign Het
Celf5 G A 10: 81,301,839 (GRCm39) T317I probably damaging Het
Celsr2 A T 3: 108,311,211 (GRCm39) probably null Het
Cenpf A T 1: 189,414,660 (GRCm39) probably null Het
Cep350 T C 1: 155,747,794 (GRCm39) D2042G probably damaging Het
Chd3 T C 11: 69,235,184 (GRCm39) D2054G probably damaging Het
Chgb A G 2: 132,635,255 (GRCm39) H399R probably benign Het
Clp1 C T 2: 84,555,935 (GRCm39) A182T possibly damaging Het
Col15a1 A G 4: 47,282,654 (GRCm39) N777S probably damaging Het
Coq6 A G 12: 84,415,412 (GRCm39) D145G possibly damaging Het
Csf2rb2 T C 15: 78,172,108 (GRCm39) Y325C probably benign Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cyp4x1 T A 4: 114,970,023 (GRCm39) D368V probably damaging Het
D430041D05Rik C T 2: 104,063,790 (GRCm39) R1354H probably damaging Het
D6Ertd527e A C 6: 87,088,887 (GRCm39) D350A unknown Het
Ddx24 A G 12: 103,385,326 (GRCm39) Y426H possibly damaging Het
Dexi G T 16: 10,360,426 (GRCm39) Y43* probably null Het
Dgka A G 10: 128,556,338 (GRCm39) probably null Het
Dhx38 A T 8: 110,285,575 (GRCm39) D419E probably benign Het
Dlg1 G A 16: 31,656,992 (GRCm39) V596I possibly damaging Het
Dlg1 C A 16: 31,484,398 (GRCm39) Q9K probably benign Het
Dnah11 A C 12: 118,046,246 (GRCm39) W1731G probably damaging Het
Dnhd1 T A 7: 105,369,995 (GRCm39) N4473K probably benign Het
Dync2h1 A C 9: 7,051,480 (GRCm39) S3152A probably benign Het
Egfl7 C T 2: 26,479,452 (GRCm39) T68I probably damaging Het
Eif2a G A 3: 58,463,073 (GRCm39) probably null Het
Emb G A 13: 117,369,286 (GRCm39) V56I possibly damaging Het
Enpp4 A T 17: 44,410,386 (GRCm39) C397S probably damaging Het
Entpd3 A G 9: 120,386,471 (GRCm39) T151A possibly damaging Het
Ero1b A G 13: 12,589,747 (GRCm39) D50G probably damaging Het
Fam219a A G 4: 41,520,242 (GRCm39) *169Q probably null Het
Fga G A 3: 82,935,869 (GRCm39) G32E probably damaging Het
Fkbpl T C 17: 34,864,333 (GRCm39) F34L probably benign Het
Fsd2 T A 7: 81,194,765 (GRCm39) D466V probably damaging Het
Gja1 A G 10: 56,264,166 (GRCm39) Y175C possibly damaging Het
Gm5478 T A 15: 101,553,059 (GRCm39) I338F probably damaging Het
Greb1 T A 12: 16,732,194 (GRCm39) Y1589F probably damaging Het
Grk3 C T 5: 113,067,919 (GRCm39) E537K probably damaging Het
H2-K2 G T 17: 34,218,474 (GRCm39) D127E probably damaging Het
Hcrtr2 A G 9: 76,137,966 (GRCm39) L383P probably benign Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Ikbke A T 1: 131,197,921 (GRCm39) probably null Het
Il1r2 A G 1: 40,144,615 (GRCm39) K101E probably benign Het
Itga11 A T 9: 62,681,653 (GRCm39) H1054L probably benign Het
Kif13a A T 13: 46,956,187 (GRCm39) V539D probably damaging Het
Kifc1 G A 17: 34,105,621 (GRCm39) T62I probably damaging Het
Klhl28 A G 12: 64,998,529 (GRCm39) Y322H probably damaging Het
Klhl6 C A 16: 19,775,764 (GRCm39) D265Y possibly damaging Het
Lama2 C T 10: 27,065,127 (GRCm39) R1179H probably benign Het
Lce6a A T 3: 92,527,635 (GRCm39) H57Q probably benign Het
Lcn11 T C 2: 25,669,305 (GRCm39) V154A probably benign Het
Lnpep A T 17: 17,758,816 (GRCm39) F843I probably damaging Het
Lrrc49 C T 9: 60,573,640 (GRCm39) V281I probably benign Het
Lrrtm1 C A 6: 77,221,611 (GRCm39) A356E probably damaging Het
Map3k1 A C 13: 111,900,044 (GRCm39) H493Q probably benign Het
Mcm4 A T 16: 15,449,979 (GRCm39) probably null Het
Mdn1 C T 4: 32,712,014 (GRCm39) P1844L probably damaging Het
Mdn1 T A 4: 32,732,829 (GRCm39) D3076E probably benign Het
Med6 A T 12: 81,635,798 (GRCm39) L27H probably damaging Het
Mrtfb A G 16: 13,199,465 (GRCm39) E106G probably damaging Het
Myo7a T A 7: 97,721,153 (GRCm39) T1271S probably damaging Het
Myo9a T A 9: 59,829,076 (GRCm39) M2376K probably benign Het
Nell2 G A 15: 95,127,095 (GRCm39) T760I probably benign Het
Neurod6 C T 6: 55,656,572 (GRCm39) A22T probably benign Het
Nlrp10 T C 7: 108,523,492 (GRCm39) K663E probably benign Het
Nopchap1 T C 10: 83,197,961 (GRCm39) S56P probably benign Het
Npr3 T A 15: 11,845,368 (GRCm39) K501N probably benign Het
Nr2f2 C A 7: 70,004,460 (GRCm39) R264L probably damaging Het
Nup35 T A 2: 80,472,984 (GRCm39) M19K probably benign Het
Oacyl A T 18: 65,880,962 (GRCm39) Q592L possibly damaging Het
Or10a4 T A 7: 106,696,933 (GRCm39) I87K probably benign Het
Or1ad6 C A 11: 50,860,670 (GRCm39) A275D possibly damaging Het
Or2v1 C G 11: 49,025,549 (GRCm39) H177D probably damaging Het
Or4a71 A G 2: 89,358,451 (GRCm39) V101A possibly damaging Het
Or5af1 T A 11: 58,722,798 (GRCm39) S273T probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5b122 T A 19: 13,563,534 (GRCm39) Y289N probably damaging Het
Or5p51 A G 7: 107,444,776 (GRCm39) S55P probably damaging Het
Or6c76b T G 10: 129,693,070 (GRCm39) S228A possibly damaging Het
Or8k25 T A 2: 86,243,514 (GRCm39) N294I probably damaging Het
Or9k7 T C 10: 130,046,939 (GRCm39) E20G probably benign Het
Patl2 T C 2: 121,957,150 (GRCm39) Y128C probably benign Het
Pcdhac2 A G 18: 37,278,942 (GRCm39) I641V probably benign Het
Polr2b T C 5: 77,461,006 (GRCm39) probably benign Het
Pot1b A T 17: 55,972,765 (GRCm39) I469N probably damaging Het
Prdm11 G T 2: 92,844,130 (GRCm39) D33E possibly damaging Het
Prkdc A G 16: 15,589,921 (GRCm39) S2595G probably damaging Het
Prrc1 G A 18: 57,507,622 (GRCm39) V259I possibly damaging Het
Prrc2b G T 2: 32,103,882 (GRCm39) R1120L probably damaging Het
Prss38 T C 11: 59,266,369 (GRCm39) S30G possibly damaging Het
Raph1 A T 1: 60,565,028 (GRCm39) L153Q probably damaging Het
Reck A G 4: 43,940,719 (GRCm39) T843A probably benign Het
Rgs7bp T C 13: 105,103,610 (GRCm39) N164D probably benign Het
Rpusd4 C A 9: 35,179,289 (GRCm39) A35D possibly damaging Het
Setd1b T C 5: 123,298,014 (GRCm39) probably benign Het
Siglec15 G T 18: 78,089,352 (GRCm39) D297E probably benign Het
Skint7 T A 4: 111,834,656 (GRCm39) C13* probably null Het
Slc5a12 A G 2: 110,463,088 (GRCm39) M395V probably benign Het
Sohlh2 C A 3: 55,115,104 (GRCm39) S363Y probably damaging Het
Srgap3 A T 6: 112,700,080 (GRCm39) V966E probably damaging Het
Stk4 C T 2: 163,940,462 (GRCm39) P266L probably damaging Het
Stxbp5l G A 16: 36,962,794 (GRCm39) H754Y probably benign Het
Synpo2l A T 14: 20,710,748 (GRCm39) M624K probably damaging Het
Tas2r136 T C 6: 132,754,375 (GRCm39) I251V probably benign Het
Tecpr1 C T 5: 144,149,408 (GRCm39) V340M probably damaging Het
Tecta C T 9: 42,299,501 (GRCm39) G196S probably damaging Het
Tex55 A C 16: 38,648,726 (GRCm39) S128A probably benign Het
Thsd7a T A 6: 12,331,541 (GRCm39) probably null Het
Timeless T C 10: 128,082,203 (GRCm39) V577A probably benign Het
Tln1 A T 4: 43,553,071 (GRCm39) V340E probably damaging Het
Tmem132c T A 5: 127,640,617 (GRCm39) Y929* probably null Het
Tmprss7 C T 16: 45,489,914 (GRCm39) R436Q probably damaging Het
Tnik A C 3: 28,704,308 (GRCm39) K989T probably damaging Het
Tnxb T A 17: 34,890,892 (GRCm39) Y412N probably damaging Het
Trmt44 A G 5: 35,726,103 (GRCm39) probably null Het
Trpm6 C A 19: 18,849,585 (GRCm39) T1704N probably benign Het
Tsc2 A T 17: 24,840,686 (GRCm39) V391E probably damaging Het
Ttc22 T C 4: 106,496,510 (GRCm39) V520A possibly damaging Het
Ttc3 T A 16: 94,257,644 (GRCm39) Y1650* probably null Het
Vmn2r24 A G 6: 123,763,893 (GRCm39) T257A probably benign Het
Xab2 A C 8: 3,663,605 (GRCm39) N408K probably benign Het
Zbtb42 A T 12: 112,647,061 (GRCm39) Y412F probably benign Het
Zfp282 A G 6: 47,857,303 (GRCm39) N179D probably damaging Het
Zfp62 C A 11: 49,106,227 (GRCm39) T106K probably benign 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
IGL00801: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
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
Predicted Primers PCR Primer
(F):5'- GTGTGTAAGTAATTCCAGCCTCCCC -3'
(R):5'- GGTTTCTAGCGGAGTGTCAGGAAAG -3'

Sequencing Primer
(F):5'- GAACACTTGAGCTTGCTGC -3'
(R):5'- TTGCCCAGGCAAAAGCG -3'
Posted On 2013-07-11