Incidental Mutation 'R8462:Krt86'
ID 656623
Institutional Source Beutler Lab
Gene Symbol Krt86
Ensembl Gene ENSMUSG00000067614
Gene Name keratin 86
Synonyms Khb4, Krt2-10, Krt2-11, MHb4
MMRRC Submission 067906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8462 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101371359-101377864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101377284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 436 (V436A)
Ref Sequence ENSEMBL: ENSMUSP00000085365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088049]
AlphaFold P97861
Predicted Effect probably benign
Transcript: ENSMUST00000088049
AA Change: V436A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: V436A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,930,074 (GRCm39) V103A possibly damaging Het
Abcb11 T C 2: 69,104,499 (GRCm39) N729S probably benign Het
Ap2a2 T A 7: 141,210,394 (GRCm39) N883K probably damaging Het
Atr T C 9: 95,749,579 (GRCm39) I464T probably benign Het
Atrn T A 2: 130,777,504 (GRCm39) H184Q probably damaging Het
Bmp5 A G 9: 75,746,874 (GRCm39) D244G probably benign Het
Celsr2 C A 3: 108,320,167 (GRCm39) E882* probably null Het
Cfap58 T A 19: 47,972,089 (GRCm39) V673E possibly damaging Het
Chl1 A G 6: 103,706,130 (GRCm39) N1155S probably benign Het
Colgalt2 C A 1: 152,378,823 (GRCm39) H416Q probably damaging Het
Dab1 C T 4: 104,561,404 (GRCm39) L230F probably benign Het
Dixdc1 G T 9: 50,622,079 (GRCm39) S84* probably null Het
Dnah8 A G 17: 30,875,603 (GRCm39) D475G probably damaging Het
Egr2 T A 10: 67,374,173 (GRCm39) N54K probably null Het
Grm3 T C 5: 9,562,365 (GRCm39) D495G probably benign Het
Kif1b G A 4: 149,266,797 (GRCm39) T1629I probably benign Het
Klf2 A T 8: 73,073,373 (GRCm39) N59I probably benign Het
Lrrk2 T C 15: 91,615,680 (GRCm39) V838A probably benign Het
Ltbp1 T C 17: 75,620,069 (GRCm39) S786P probably damaging Het
Matk C G 10: 81,097,859 (GRCm39) R315G probably damaging Het
Meikin T C 11: 54,290,666 (GRCm39) V249A probably benign Het
Mrnip A G 11: 50,090,654 (GRCm39) R273G probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nsd1 T A 13: 55,446,189 (GRCm39) probably null Het
Pitpnm1 A T 19: 4,155,135 (GRCm39) H321L probably benign Het
Plekhm2 T C 4: 141,367,130 (GRCm39) Y170C probably damaging Het
Ralgapa1 T C 12: 55,723,303 (GRCm39) D2197G possibly damaging Het
Rmdn2 C T 17: 79,978,053 (GRCm39) T338M probably damaging Het
Rps10 A G 17: 27,853,208 (GRCm39) S54P probably damaging Het
S100a11 T C 3: 93,433,422 (GRCm39) S89P probably benign Het
Sh3yl1 T C 12: 30,992,072 (GRCm39) Y176H probably damaging Het
Sppl2c G T 11: 104,077,532 (GRCm39) A111S possibly damaging Het
Stab2 T C 10: 86,803,598 (GRCm39) E317G possibly damaging Het
Stim1 A G 7: 102,076,324 (GRCm39) E425G probably damaging Het
Stxbp1 C T 2: 32,707,293 (GRCm39) probably null Het
Traf6 G A 2: 101,527,801 (GRCm39) R517Q probably damaging Het
Ttn A G 2: 76,804,387 (GRCm39) V295A probably damaging Het
Vps45 A T 3: 95,941,091 (GRCm39) D383E possibly damaging Het
Zfp984 A G 4: 147,839,796 (GRCm39) C352R probably damaging 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
R0607:Krt86 UTSW 15 101,377,412 (GRCm39) missense unknown
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
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'- GCTCCTGTAACATGCTTTCGG -3'
(R):5'- GCATTGTGACCTCCTAGCAC -3'

Sequencing Primer
(F):5'- ACATGCTTTCGGTTTACTAAAGTCTC -3'
(R):5'- GTGACCTCCTAGCACTTCTTACAG -3'
Posted On 2021-01-18