Incidental Mutation 'R2852:Krt82'
ID |
252338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt82
|
Ensembl Gene |
ENSMUSG00000049548 |
Gene Name |
keratin 82 |
Synonyms |
Krt2-20 |
MMRRC Submission |
040445-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R2852 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101449651-101459094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101456870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 170
(Y170C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023713]
[ENSMUST00000023714]
|
AlphaFold |
Q99M74 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023713
AA Change: Y170C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023713 Gene: ENSMUSG00000049548 AA Change: Y170C
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
57 |
N/A |
INTRINSIC |
Pfam:Keratin_2_head
|
61 |
114 |
6.1e-13 |
PFAM |
Filament
|
117 |
428 |
1.32e-153 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023714
|
SMART Domains |
Protein: ENSMUSP00000023714 Gene: ENSMUSG00000048699
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
16 |
139 |
3.1e-24 |
PFAM |
Filament
|
142 |
453 |
1.05e-179 |
SMART |
low complexity region
|
465 |
522 |
N/A |
INTRINSIC |
low complexity region
|
527 |
535 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.5599 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (46/46) |
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 keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
Pah |
T |
A |
10: 87,403,327 (GRCm39) |
L131Q |
probably damaging |
Het |
Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly damaging |
Het |
|
Other mutations in Krt82 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Krt82
|
APN |
15 |
101,451,813 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01112:Krt82
|
APN |
15 |
101,453,958 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01820:Krt82
|
APN |
15 |
101,451,887 (GRCm39) |
splice site |
probably benign |
|
IGL02529:Krt82
|
APN |
15 |
101,458,831 (GRCm39) |
nonsense |
probably null |
|
IGL02894:Krt82
|
APN |
15 |
101,451,155 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02974:Krt82
|
APN |
15 |
101,459,020 (GRCm39) |
nonsense |
probably null |
|
IGL03263:Krt82
|
APN |
15 |
101,450,307 (GRCm39) |
missense |
probably benign |
0.00 |
R0268:Krt82
|
UTSW |
15 |
101,450,148 (GRCm39) |
missense |
probably benign |
0.02 |
R0385:Krt82
|
UTSW |
15 |
101,454,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Krt82
|
UTSW |
15 |
101,454,035 (GRCm39) |
splice site |
probably benign |
|
R1073:Krt82
|
UTSW |
15 |
101,458,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1601:Krt82
|
UTSW |
15 |
101,453,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Krt82
|
UTSW |
15 |
101,451,819 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1944:Krt82
|
UTSW |
15 |
101,456,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R1974:Krt82
|
UTSW |
15 |
101,453,597 (GRCm39) |
missense |
probably benign |
0.00 |
R2049:Krt82
|
UTSW |
15 |
101,453,591 (GRCm39) |
missense |
probably damaging |
0.96 |
R2140:Krt82
|
UTSW |
15 |
101,453,591 (GRCm39) |
missense |
probably damaging |
0.96 |
R2851:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R2853:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R3815:Krt82
|
UTSW |
15 |
101,459,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Krt82
|
UTSW |
15 |
101,450,182 (GRCm39) |
missense |
probably benign |
0.00 |
R4798:Krt82
|
UTSW |
15 |
101,458,923 (GRCm39) |
missense |
probably benign |
0.01 |
R4980:Krt82
|
UTSW |
15 |
101,453,534 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5212:Krt82
|
UTSW |
15 |
101,453,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R5260:Krt82
|
UTSW |
15 |
101,456,823 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5821:Krt82
|
UTSW |
15 |
101,456,820 (GRCm39) |
nonsense |
probably null |
|
R6009:Krt82
|
UTSW |
15 |
101,453,540 (GRCm39) |
missense |
probably benign |
0.00 |
R6955:Krt82
|
UTSW |
15 |
101,451,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Krt82
|
UTSW |
15 |
101,451,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R7307:Krt82
|
UTSW |
15 |
101,451,342 (GRCm39) |
missense |
probably damaging |
0.97 |
R7420:Krt82
|
UTSW |
15 |
101,454,022 (GRCm39) |
missense |
probably damaging |
0.96 |
R7837:Krt82
|
UTSW |
15 |
101,456,792 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8354:Krt82
|
UTSW |
15 |
101,450,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Krt82
|
UTSW |
15 |
101,453,546 (GRCm39) |
missense |
probably benign |
0.12 |
R8454:Krt82
|
UTSW |
15 |
101,450,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R8692:Krt82
|
UTSW |
15 |
101,456,828 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9111:Krt82
|
UTSW |
15 |
101,451,786 (GRCm39) |
missense |
probably benign |
0.01 |
R9187:Krt82
|
UTSW |
15 |
101,450,260 (GRCm39) |
missense |
probably benign |
0.01 |
R9346:Krt82
|
UTSW |
15 |
101,458,959 (GRCm39) |
missense |
probably benign |
|
R9527:Krt82
|
UTSW |
15 |
101,454,558 (GRCm39) |
missense |
probably benign |
0.39 |
Z1176:Krt82
|
UTSW |
15 |
101,450,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGATGCCCTGCACTACTC -3'
(R):5'- CATCCCTCTGGGTGTTAGTC -3'
Sequencing Primer
(F):5'- CCCTGCTTTACATGTGAGGAG -3'
(R):5'- TCTCTGCAGAGACCTGGC -3'
|
Posted On |
2014-12-04 |