Incidental Mutation 'R0102:Krt84'
ID 16350
Institutional Source Beutler Lab
Gene Symbol Krt84
Ensembl Gene ENSMUSG00000044294
Gene Name keratin 84
Synonyms Krt2-16, Krt2-3, HRb-1
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R0102 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 101433461-101441255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101437138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 342 (I342L)
Ref Sequence ENSEMBL: ENSMUSP00000023720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023720]
AlphaFold Q99M73
Predicted Effect probably damaging
Transcript: ENSMUST00000023720
AA Change: I342L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: I342L

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Adcy4 A C 14: 56,008,990 (GRCm39) N812K probably benign Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bod1l G A 5: 41,974,612 (GRCm39) P2234L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lmbrd2 G A 15: 9,184,039 (GRCm39) R551K probably damaging Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Mat1a T A 14: 40,842,187 (GRCm39) probably benign Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mroh5 A T 15: 73,691,199 (GRCm39) D155E probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Ntrk2 T C 13: 58,956,607 (GRCm39) V22A probably benign Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or2t35 C T 14: 14,407,876 (GRCm38) S218F probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Pde4b T A 4: 102,447,375 (GRCm39) S9T probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pitpnm3 C T 11: 71,947,072 (GRCm39) V776M probably damaging Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prorp A G 12: 55,429,082 (GRCm39) D535G probably benign Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Spata31h1 T A 10: 82,119,390 (GRCm39) K4540M probably damaging Het
Spata31h2 T A 5: 23,542,489 (GRCm39) noncoding transcript Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trgv4 T G 13: 19,369,370 (GRCm39) F38C possibly damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Vwa3b A C 1: 37,174,595 (GRCm39) E670A probably damaging 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
IGL01874:Krt84 APN 15 101,436,239 (GRCm39) missense probably damaging 1.00
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
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 2013-01-20