Incidental Mutation 'IGL01671:Dnajb8'
| ID |
103496 |
| 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: 0.677)
|
| Stock # |
IGL01671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88199250-88200238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88199902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 146
(L146S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061866]
|
| AlphaFold |
Q9QYI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061866
AA Change: L146S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056592
Gene: ENSMUSG00000048206
AA Change: L146S
| 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: L12S
|
| 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 |
|---|
| Cdc7 |
C |
T |
5: 107,131,111 (GRCm39) |
P529S |
probably damaging |
Het |
| Defb45 |
T |
C |
2: 152,435,331 (GRCm39) |
K26E |
probably benign |
Het |
| Egln1 |
T |
C |
8: 125,637,454 (GRCm39) |
D399G |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 101,873,986 (GRCm39) |
C563S |
probably damaging |
Het |
| Gad2 |
T |
A |
2: 22,513,711 (GRCm39) |
Y49* |
probably null |
Het |
| Gga2 |
A |
G |
7: 121,594,079 (GRCm39) |
S470P |
probably benign |
Het |
| Gm21276 |
G |
T |
7: 38,464,151 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3115 |
G |
A |
14: 4,084,189 (GRCm38) |
C9Y |
probably benign |
Het |
| H2-M1 |
T |
C |
17: 36,981,330 (GRCm39) |
E235G |
probably damaging |
Het |
| Hjv |
T |
C |
3: 96,435,807 (GRCm39) |
V355A |
probably damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,189 (GRCm39) |
G41S |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,018,609 (GRCm39) |
D575G |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,707,340 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,210,381 (GRCm39) |
T1775A |
probably damaging |
Het |
| Or2aj5 |
A |
G |
16: 19,424,671 (GRCm39) |
I249T |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,255 (GRCm39) |
F107L |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,906,149 (GRCm39) |
V194A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,958,293 (GRCm39) |
D265G |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,674,088 (GRCm39) |
I793V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,485,609 (GRCm39) |
I479V |
possibly damaging |
Het |
| Rhcg |
A |
C |
7: 79,248,299 (GRCm39) |
I435S |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,380,678 (GRCm39) |
T535S |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,805,141 (GRCm39) |
D279G |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,802,448 (GRCm39) |
|
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 |
|
IGL01838:Dnajb8
|
APN |
6 |
88,200,033 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
2014-01-21 |
Incidental Mutation