Incidental Mutation 'IGL01976:Dnajb8'
ID |
182679 |
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 # |
IGL01976
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
88199250-88200238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88199508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 15
(S15P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061866]
|
AlphaFold |
Q9QYI7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061866
AA Change: S15P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000056592 Gene: ENSMUSG00000048206 AA Change: S15P
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 |
probably benign
Transcript: ENSMUST00000203827
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
Bnip2 |
T |
C |
9: 69,908,116 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
Grk1 |
T |
C |
8: 13,465,993 (GRCm39) |
V479A |
probably damaging |
Het |
H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
Irx6 |
C |
A |
8: 93,402,717 (GRCm39) |
C27* |
probably null |
Het |
Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
Klrb1a |
T |
A |
6: 128,595,072 (GRCm39) |
T132S |
probably benign |
Het |
Mmp13 |
C |
T |
9: 7,278,974 (GRCm39) |
|
probably benign |
Het |
Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
Psmd9 |
A |
G |
5: 123,372,697 (GRCm39) |
E60G |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
Het |
Usp50 |
T |
A |
2: 126,551,386 (GRCm39) |
E31V |
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 |
IGL01838:Dnajb8
|
APN |
6 |
88,200,033 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
2014-05-07 |