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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |