Incidental Mutation 'IGL03023:Krt84'
ID408042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt84
Ensembl Gene ENSMUSG00000044294
Gene Namekeratin 84
SynonymsKrt2-3, Krt2-16, HRb-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #IGL03023
Quality Score
Status
Chromosome15
Chromosomal Location101525026-101532820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101528445 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 385 (T385A)
Ref Sequence ENSEMBL: ENSMUSP00000023720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023720]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023720
AA Change: T385A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: T385A

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,904,984 D28G probably damaging Het
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Comp T C 8: 70,378,610 probably benign Het
Cyp2d9 A G 15: 82,455,518 T313A probably damaging Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Olfr1333 A T 4: 118,830,252 F63I probably damaging Het
Psmc4 T A 7: 28,042,860 I264L possibly damaging Het
Rwdd4a T C 8: 47,542,768 V61A probably benign Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Vsig2 A G 9: 37,542,412 Y136C probably damaging Het
Other mutations in Krt84
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Krt84 APN 15 101528735 missense probably damaging 1.00
IGL00227:Krt84 APN 15 101527773 missense probably benign 0.08
IGL01352:Krt84 APN 15 101528774 missense probably damaging 1.00
IGL01523:Krt84 APN 15 101528744 missense probably damaging 1.00
IGL01797:Krt84 APN 15 101528480 missense possibly damaging 0.93
IGL01874:Krt84 APN 15 101527804 missense probably damaging 1.00
IGL02044:Krt84 APN 15 101528496 missense probably damaging 1.00
IGL02183:Krt84 APN 15 101532356 missense unknown
IGL02455:Krt84 APN 15 101525735 missense unknown
R0102:Krt84 UTSW 15 101528703 missense probably damaging 0.99
R0102:Krt84 UTSW 15 101528703 missense probably damaging 0.99
R0103:Krt84 UTSW 15 101530236 missense probably damaging 1.00
R0423:Krt84 UTSW 15 101528720 missense probably damaging 1.00
R0704:Krt84 UTSW 15 101532677 missense probably benign 0.00
R1500:Krt84 UTSW 15 101530224 missense probably damaging 0.99
R1647:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1650:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1651:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1652:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1731:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1999:Krt84 UTSW 15 101529584 missense possibly damaging 0.76
R2106:Krt84 UTSW 15 101530866 missense probably damaging 1.00
R2150:Krt84 UTSW 15 101529584 missense possibly damaging 0.76
R2212:Krt84 UTSW 15 101532538 missense probably benign 0.01
R2397:Krt84 UTSW 15 101530254 missense probably benign 0.18
R4722:Krt84 UTSW 15 101528411 missense probably damaging 1.00
R4926:Krt84 UTSW 15 101530254 missense probably benign 0.18
R5634:Krt84 UTSW 15 101528649 missense probably benign 0.30
R5807:Krt84 UTSW 15 101530212 missense probably damaging 1.00
R5978:Krt84 UTSW 15 101530230 missense probably damaging 1.00
R6524:Krt84 UTSW 15 101532752 missense unknown
R7032:Krt84 UTSW 15 101528489 missense probably benign 0.13
R7155:Krt84 UTSW 15 101532254 missense probably damaging 1.00
R7159:Krt84 UTSW 15 101529609 nonsense probably null
Posted On2016-08-02