Incidental Mutation 'IGL01523:Krt84'
ID89464
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: 0.122) question?
Stock #IGL01523
Quality Score
Status
Chromosome15
Chromosomal Location101525026-101532820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101528744 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 328 (V328E)
Ref Sequence ENSEMBL: ENSMUSP00000023720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023720]
Predicted Effect probably damaging
Transcript: ENSMUST00000023720
AA Change: V328E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: V328E

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,976,494 E246G probably damaging Het
B3galt5 T A 16: 96,315,891 D241E probably damaging Het
Camta1 A G 4: 151,145,050 F442L possibly damaging Het
Cntnap5b A T 1: 100,431,779 E709V probably benign Het
Ctnnal1 T C 4: 56,835,243 I345V probably damaging Het
Evpl T C 11: 116,233,444 N183S probably damaging Het
Fam90a1b T C X: 94,356,759 D155G probably benign Het
Fsip2 G A 2: 82,977,519 S1394N probably benign Het
Gcnt2 A T 13: 40,887,863 Q166L probably benign Het
Gpatch1 T C 7: 35,308,338 D99G probably null Het
Grin2b A T 6: 136,044,265 W13R probably null Het
Hbb-bh1 C T 7: 103,841,817 V127M probably benign Het
Hc C T 2: 35,039,238 M282I probably benign Het
Hirip3 A G 7: 126,862,704 E57G probably damaging Het
Inpp5j C T 11: 3,495,932 probably null Het
Lrriq1 C A 10: 103,218,116 E247* probably null Het
Mmrn2 T A 14: 34,403,217 F918L probably damaging Het
Myh13 A G 11: 67,347,943 E704G possibly damaging Het
Myo16 T A 8: 10,370,908 N249K probably damaging Het
Nobox C A 6: 43,304,123 K472N probably damaging Het
Olfr3 T A 2: 36,812,403 T230S probably benign Het
Orc4 A T 2: 48,917,224 S232T probably benign Het
Pign A T 1: 105,653,178 Y159N probably damaging Het
Rere T A 4: 150,615,555 V1032E possibly damaging Het
Ror2 T C 13: 53,118,963 Q210R probably benign Het
Sh3tc2 G A 18: 61,990,883 R905Q probably benign Het
Ttn A G 2: 76,954,983 S683P possibly 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
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
IGL03023:Krt84 APN 15 101528445 missense possibly damaging 0.74
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
R7882:Krt84 UTSW 15 101528391 missense probably benign 0.04
Z1177:Krt84 UTSW 15 101525982 frame shift probably null
Posted On2013-12-03