Incidental Mutation 'IGL01838:Dnajb8'
| ID |
155025 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajb8
|
| Ensembl Gene |
ENSMUSG00000048206 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B8 |
| Synonyms |
mDj6, 1700016F14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
IGL01838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88199250-88200238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88200033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 190
(V190M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061866]
|
| AlphaFold |
Q9QYI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061866
AA Change: V190M
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000056592
Gene: ENSMUSG00000048206
AA Change: V190M
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
5.41e-33 |
SMART |
|
low complexity region
|
155 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156018
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203827
AA Change: V56M
|
| 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 belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Cpe |
G |
T |
8: 65,047,998 (GRCm39) |
T422K |
possibly damaging |
Het |
| Dis3l |
C |
A |
9: 64,215,581 (GRCm39) |
V888L |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,397,297 (GRCm39) |
Y3909* |
probably null |
Het |
| Grip2 |
A |
G |
6: 91,741,744 (GRCm39) |
V927A |
possibly damaging |
Het |
| Hyal3 |
C |
T |
9: 107,463,786 (GRCm39) |
R304C |
possibly damaging |
Het |
| Igkv8-21 |
A |
G |
6: 70,292,009 (GRCm39) |
S78P |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,891,100 (GRCm39) |
S356P |
probably damaging |
Het |
| Meiob |
T |
C |
17: 25,042,643 (GRCm39) |
V157A |
possibly damaging |
Het |
| Mrpl48 |
C |
T |
7: 100,201,860 (GRCm39) |
V35M |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,787,034 (GRCm39) |
Y739H |
probably damaging |
Het |
| Nfyb |
A |
G |
10: 82,586,642 (GRCm39) |
L174S |
probably benign |
Het |
| Prm2 |
T |
C |
16: 10,609,672 (GRCm39) |
|
probably benign |
Het |
| Prss50 |
T |
C |
9: 110,693,560 (GRCm39) |
L432P |
probably benign |
Het |
| Raly |
T |
A |
2: 154,701,590 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,587,649 (GRCm39) |
M1365K |
probably damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,348,464 (GRCm39) |
F270L |
possibly damaging |
Het |
| Spred1 |
T |
G |
2: 117,008,062 (GRCm39) |
S323A |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,121,910 (GRCm39) |
E761G |
possibly damaging |
Het |
| Thbs3 |
A |
T |
3: 89,126,365 (GRCm39) |
K229* |
probably null |
Het |
| Thoc1 |
G |
A |
18: 9,993,386 (GRCm39) |
G582S |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,956 (GRCm39) |
T512A |
probably benign |
Het |
| Wee1 |
T |
C |
7: 109,723,744 (GRCm39) |
S220P |
probably benign |
Het |
|
| Other mutations in Dnajb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Dnajb8
|
APN |
6 |
88,199,836 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01671:Dnajb8
|
APN |
6 |
88,199,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01976:Dnajb8
|
APN |
6 |
88,199,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03135:Dnajb8
|
APN |
6 |
88,200,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Dnajb8
|
UTSW |
6 |
88,199,467 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R0762:Dnajb8
|
UTSW |
6 |
88,200,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Dnajb8
|
UTSW |
6 |
88,199,857 (GRCm39) |
missense |
probably benign |
|
|
R5861:Dnajb8
|
UTSW |
6 |
88,200,088 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5946:Dnajb8
|
UTSW |
6 |
88,199,575 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6575:Dnajb8
|
UTSW |
6 |
88,200,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Dnajb8
|
UTSW |
6 |
88,199,634 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6814:Dnajb8
|
UTSW |
6 |
88,200,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Dnajb8
|
UTSW |
6 |
88,200,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8190:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8191:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8192:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8193:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8210:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8219:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8221:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8224:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8225:Dnajb8
|
UTSW |
6 |
88,199,940 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9244:Dnajb8
|
UTSW |
6 |
88,199,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dnajb8
|
UTSW |
6 |
88,199,827 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Dnajb8
|
UTSW |
6 |
88,199,892 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2014-02-04 |
Incidental Mutation