Incidental Mutation 'R2139:Krt86'
ID 236073
Institutional Source Beutler Lab
Gene Symbol Krt86
Ensembl Gene ENSMUSG00000067614
Gene Name keratin 86
Synonyms Khb4, Krt2-10, Krt2-11, MHb4
MMRRC Submission 040142-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2139 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101371359-101377864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101371639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 70 (I70F)
Ref Sequence ENSEMBL: ENSMUSP00000085365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088049]
AlphaFold P97861
Predicted Effect probably benign
Transcript: ENSMUST00000088049
AA Change: I70F

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: I70F

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,215,593 (GRCm39) F318I probably damaging Het
Bfsp2 T C 9: 103,327,074 (GRCm39) K221R probably benign Het
Cacna1b A C 2: 24,569,485 (GRCm39) M813R probably benign Het
Chaf1a T C 17: 56,372,226 (GRCm39) L798P probably damaging Het
Chd8 G A 14: 52,474,428 (GRCm39) T201I probably benign Het
Col23a1 T C 11: 51,464,861 (GRCm39) S436P probably benign Het
Cubn T C 2: 13,340,978 (GRCm39) I2248V probably benign Het
Cyp4f39 A G 17: 32,710,163 (GRCm39) I440M probably benign Het
Dhcr24 G T 4: 106,429,499 (GRCm39) E191* probably null Het
Dlg5 T C 14: 24,220,612 (GRCm39) D522G probably damaging Het
Dnaja4 A T 9: 54,616,506 (GRCm39) M170L probably benign Het
Dop1b T C 16: 93,567,895 (GRCm39) S1441P possibly damaging Het
Efcab3 C T 11: 104,642,737 (GRCm39) T1120I possibly damaging Het
Egr2 T A 10: 67,376,702 (GRCm39) S383T probably damaging Het
Elovl1 A G 4: 118,288,303 (GRCm39) D94G probably damaging Het
Erbb4 A G 1: 68,385,788 (GRCm39) V267A probably damaging Het
Esp38 T A 17: 40,264,275 (GRCm39) I11N probably damaging Het
Esrrb T C 12: 86,468,740 (GRCm39) probably null Het
Fbxo24 A T 5: 137,611,327 (GRCm39) S488T probably damaging Het
Fgfr1 T G 8: 26,060,882 (GRCm39) V618G probably damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Gpr61 A T 3: 108,058,077 (GRCm39) C195S probably damaging Het
Greb1l A C 18: 10,555,011 (GRCm39) N1686H probably damaging Het
Hapln4 T C 8: 70,540,788 (GRCm39) F274L probably benign Het
Hoxc10 A T 15: 102,875,912 (GRCm39) Q207L probably benign Het
Hspa12a A G 19: 58,787,914 (GRCm39) V636A probably benign Het
Il22ra2 T A 10: 19,508,618 (GRCm39) F215L probably benign Het
Il36b A G 2: 24,044,672 (GRCm39) N24S probably benign Het
Kank1 G A 19: 25,389,117 (GRCm39) G930D probably benign Het
Kif13a T C 13: 46,905,945 (GRCm39) D666G possibly damaging Het
Lgi4 A T 7: 30,762,548 (GRCm39) I112F probably damaging Het
Lrrc8c T G 5: 105,754,558 (GRCm39) I111S probably damaging Het
Ltbp2 T C 12: 84,862,753 (GRCm39) N600S probably damaging Het
Mbd3l2 A T 9: 18,356,254 (GRCm39) D193V probably damaging Het
Mroh5 T A 15: 73,661,940 (GRCm39) D417V probably damaging Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Mtarc1 G A 1: 184,527,632 (GRCm39) T276I probably benign Het
Muc4 T A 16: 32,581,599 (GRCm39) I2488N unknown Het
Myrf C G 19: 10,193,831 (GRCm39) A532P probably damaging Het
Nav3 T C 10: 109,688,996 (GRCm39) N427S probably benign Het
Neb T C 2: 52,102,600 (GRCm39) S4315G probably damaging Het
Nyap2 A G 1: 81,218,983 (GRCm39) D335G probably damaging Het
Olfm4 T C 14: 80,251,755 (GRCm39) L225P probably benign Het
Or10z1 A T 1: 174,078,302 (GRCm39) probably null Het
Or4c104 T A 2: 88,586,437 (GRCm39) N194I probably damaging Het
Or51ac3 A T 7: 103,213,961 (GRCm39) I175K possibly damaging Het
Or8s2 T C 15: 98,276,145 (GRCm39) N282S probably damaging Het
Pcdhac2 T G 18: 37,279,139 (GRCm39) Y706* probably null Het
Pgbd1 A G 13: 21,607,190 (GRCm39) S335P probably damaging Het
Pkhd1l1 A C 15: 44,393,214 (GRCm39) I1850L possibly damaging Het
Pogz T C 3: 94,778,318 (GRCm39) V304A possibly damaging Het
Rap1a T C 3: 105,646,856 (GRCm39) I100V probably damaging Het
Slc4a4 A T 5: 89,194,123 (GRCm39) K201M probably damaging Het
Slc6a1 T C 6: 114,281,022 (GRCm39) F8S possibly damaging Het
St18 T G 1: 6,880,839 (GRCm39) M444R possibly damaging Het
Syna G T 5: 134,588,106 (GRCm39) S281* probably null Het
Tgm1 A G 14: 55,947,000 (GRCm39) V336A probably damaging Het
Tle6 G T 10: 81,429,868 (GRCm39) T400K probably damaging Het
Tmem181a T C 17: 6,348,481 (GRCm39) W328R probably damaging Het
Trim7 T C 11: 48,729,721 (GRCm39) F193L probably benign Het
Txndc16 A T 14: 45,410,046 (GRCm39) M178K probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn1r74 A G 7: 11,581,243 (GRCm39) Y181C probably damaging Het
Vmn2r56 T A 7: 12,446,890 (GRCm39) K421* probably null Het
Vwa7 T G 17: 35,242,406 (GRCm39) S503R probably benign Het
Washc5 G A 15: 59,221,991 (GRCm39) T135M probably damaging Het
Wdr6 T C 9: 108,451,322 (GRCm39) I854V probably benign Het
Zfp507 A G 7: 35,493,148 (GRCm39) C632R 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
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'- ACTTGCGGATCCTACTGTGG -3'
(R):5'- CAATATGAGTGGGCTTTCTGC -3'

Sequencing Primer
(F):5'- ATCCTACTGTGGTGGCCG -3'
(R):5'- TGACATGCTGTGCTCCG -3'
Posted On 2014-10-01