Incidental Mutation 'IGL01874:Krt84'
ID 178814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt84
Ensembl Gene ENSMUSG00000044294
Gene Name keratin 84
Synonyms Krt2-16, Krt2-3, HRb-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL01874
Quality Score
Status
Chromosome 15
Chromosomal Location 101433461-101441255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101436239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 450 (A450V)
Ref Sequence ENSEMBL: ENSMUSP00000023720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023720]
AlphaFold Q99M73
Predicted Effect probably damaging
Transcript: ENSMUST00000023720
AA Change: A450V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: A450V

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 169 3.9e-39 PFAM
Filament 172 483 4.05e-163 SMART
low complexity region 535 560 N/A INTRINSIC
low complexity region 574 602 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229893
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,916,823 (GRCm39) V723D possibly damaging Het
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Aox4 T C 1: 58,291,243 (GRCm39) L787S probably damaging Het
Atp2c1 A C 9: 105,326,024 (GRCm39) V293G probably damaging Het
Ccnb1 T C 13: 100,920,001 (GRCm39) D170G probably damaging Het
Cdc42 T C 4: 137,063,381 (GRCm39) I4V probably benign Het
Clip1 T C 5: 123,741,729 (GRCm39) Q1175R possibly damaging Het
Cox6a1 A G 5: 115,483,904 (GRCm39) *113Q probably null Het
Crtc2 C T 3: 90,165,815 (GRCm39) P139L probably damaging Het
Cyp8b1 A T 9: 121,744,969 (GRCm39) M121K possibly damaging Het
D630003M21Rik C A 2: 158,046,644 (GRCm39) G778C probably damaging Het
Dgat1 A G 15: 76,387,241 (GRCm39) F349L probably damaging Het
Enox1 A G 14: 77,816,602 (GRCm39) Y194C probably damaging Het
Fam120b T A 17: 15,623,301 (GRCm39) C426* probably null Het
Fxyd3 A G 7: 30,770,318 (GRCm39) probably benign Het
Gin1 A G 1: 97,710,797 (GRCm39) Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11110 T A 17: 57,399,693 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,973 (GRCm39) noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 (GRCm39) S598P probably damaging Het
Hook3 T A 8: 26,529,760 (GRCm39) N199Y possibly damaging Het
Il10ra A G 9: 45,178,458 (GRCm39) L41P probably damaging Het
Itgam C T 7: 127,714,338 (GRCm39) T949I probably damaging Het
Kctd3 A G 1: 188,729,188 (GRCm39) V123A probably damaging Het
Lrrc7 G A 3: 157,946,080 (GRCm39) probably benign Het
Nckap1 A G 2: 80,355,980 (GRCm39) F608L probably damaging Het
Niban2 A T 2: 32,795,779 (GRCm39) probably null Het
Nmbr A T 10: 14,642,696 (GRCm39) Y85F probably benign Het
Nol6 A C 4: 41,115,412 (GRCm39) L1135R probably damaging Het
Ntan1 T C 16: 13,653,077 (GRCm39) F278L probably benign Het
Or2n1e T A 17: 38,586,408 (GRCm39) S249T probably benign Het
Pcsk5 T A 19: 17,573,041 (GRCm39) T474S probably damaging Het
Pex11b T A 3: 96,550,883 (GRCm39) probably null Het
Pkhd1 G T 1: 20,173,459 (GRCm39) A3786E probably benign Het
Prkdc T C 16: 15,552,858 (GRCm39) I2098T possibly damaging Het
Prl2c5 T A 13: 13,365,362 (GRCm39) S169R probably benign Het
Ptbp2 A G 3: 119,541,449 (GRCm39) V196A probably damaging Het
Rad17 T C 13: 100,754,192 (GRCm39) probably benign Het
Skic2 T C 17: 35,060,185 (GRCm39) N114D probably benign Het
Slc47a2 T A 11: 61,203,685 (GRCm39) probably null Het
Srcin1 A T 11: 97,423,924 (GRCm39) M684K possibly damaging Het
Sspo T A 6: 48,429,124 (GRCm39) C298S probably damaging Het
Tenm3 G T 8: 48,689,793 (GRCm39) Y1915* probably null Het
Tnks1bp1 A G 2: 84,888,791 (GRCm39) T373A probably benign Het
Trp63 A C 16: 25,701,335 (GRCm39) N470H possibly damaging Het
Ttn T C 2: 76,628,907 (GRCm39) N12703S probably damaging Het
Ubr4 T C 4: 139,120,600 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,449,602 (GRCm39) Y212F probably benign Het
Other mutations in Krt84
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Krt84 APN 15 101,437,170 (GRCm39) missense probably damaging 1.00
IGL00227:Krt84 APN 15 101,436,208 (GRCm39) missense probably benign 0.08
IGL01352:Krt84 APN 15 101,437,209 (GRCm39) missense probably damaging 1.00
IGL01523:Krt84 APN 15 101,437,179 (GRCm39) missense probably damaging 1.00
IGL01797:Krt84 APN 15 101,436,915 (GRCm39) missense possibly damaging 0.93
IGL02044:Krt84 APN 15 101,436,931 (GRCm39) missense probably damaging 1.00
IGL02183:Krt84 APN 15 101,440,791 (GRCm39) missense unknown
IGL02455:Krt84 APN 15 101,434,170 (GRCm39) missense unknown
IGL03023:Krt84 APN 15 101,436,880 (GRCm39) missense possibly damaging 0.74
R0102:Krt84 UTSW 15 101,437,138 (GRCm39) missense probably damaging 0.99
R0102:Krt84 UTSW 15 101,437,138 (GRCm39) missense probably damaging 0.99
R0103:Krt84 UTSW 15 101,438,671 (GRCm39) missense probably damaging 1.00
R0423:Krt84 UTSW 15 101,437,155 (GRCm39) missense probably damaging 1.00
R0704:Krt84 UTSW 15 101,441,112 (GRCm39) missense probably benign 0.00
R1500:Krt84 UTSW 15 101,438,659 (GRCm39) missense probably damaging 0.99
R1647:Krt84 UTSW 15 101,434,398 (GRCm39) missense possibly damaging 0.95
R1650:Krt84 UTSW 15 101,434,398 (GRCm39) missense possibly damaging 0.95
R1651:Krt84 UTSW 15 101,434,398 (GRCm39) missense possibly damaging 0.95
R1652:Krt84 UTSW 15 101,434,398 (GRCm39) missense possibly damaging 0.95
R1731:Krt84 UTSW 15 101,434,398 (GRCm39) missense possibly damaging 0.95
R1999:Krt84 UTSW 15 101,438,019 (GRCm39) missense possibly damaging 0.76
R2106:Krt84 UTSW 15 101,439,301 (GRCm39) missense probably damaging 1.00
R2150:Krt84 UTSW 15 101,438,019 (GRCm39) missense possibly damaging 0.76
R2212:Krt84 UTSW 15 101,440,973 (GRCm39) missense probably benign 0.01
R2397:Krt84 UTSW 15 101,438,689 (GRCm39) missense probably benign 0.18
R4722:Krt84 UTSW 15 101,436,846 (GRCm39) missense probably damaging 1.00
R4926:Krt84 UTSW 15 101,438,689 (GRCm39) missense probably benign 0.18
R5634:Krt84 UTSW 15 101,437,084 (GRCm39) missense probably benign 0.30
R5807:Krt84 UTSW 15 101,438,647 (GRCm39) missense probably damaging 1.00
R5978:Krt84 UTSW 15 101,438,665 (GRCm39) missense probably damaging 1.00
R6524:Krt84 UTSW 15 101,441,187 (GRCm39) missense unknown
R7032:Krt84 UTSW 15 101,436,924 (GRCm39) missense probably benign 0.13
R7155:Krt84 UTSW 15 101,440,689 (GRCm39) missense probably damaging 1.00
R7159:Krt84 UTSW 15 101,438,044 (GRCm39) nonsense probably null
R7882:Krt84 UTSW 15 101,436,826 (GRCm39) missense probably benign 0.04
R8492:Krt84 UTSW 15 101,438,051 (GRCm39) missense probably damaging 1.00
R8886:Krt84 UTSW 15 101,437,221 (GRCm39) missense possibly damaging 0.72
R8944:Krt84 UTSW 15 101,437,183 (GRCm39) missense probably benign 0.27
R9076:Krt84 UTSW 15 101,438,098 (GRCm39) missense probably damaging 0.96
R9081:Krt84 UTSW 15 101,440,814 (GRCm39) missense unknown
R9082:Krt84 UTSW 15 101,440,814 (GRCm39) missense unknown
R9141:Krt84 UTSW 15 101,440,974 (GRCm39) missense probably benign
R9535:Krt84 UTSW 15 101,438,016 (GRCm39) critical splice donor site probably null
Z1177:Krt84 UTSW 15 101,434,417 (GRCm39) frame shift probably null
Posted On 2014-05-07