Incidental Mutation 'IGL00495:Dnajb8'
ID |
10244 |
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 # |
IGL00495
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
88199250-88200238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 88199836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 124
(R124L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061866]
|
AlphaFold |
Q9QYI7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061866
AA Change: R124L
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000056592 Gene: ENSMUSG00000048206 AA Change: R124L
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Chrm2 |
A |
T |
6: 36,500,355 (GRCm39) |
I71F |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
Ms4a6d |
G |
A |
19: 11,579,249 (GRCm39) |
T76I |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,723,162 (GRCm39) |
H221L |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
Ppp4r3b |
A |
C |
11: 29,161,782 (GRCm39) |
T719P |
possibly damaging |
Het |
Socs4 |
G |
A |
14: 47,527,709 (GRCm39) |
V215I |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
Twf1 |
C |
T |
15: 94,478,817 (GRCm39) |
|
probably benign |
Het |
Vrk3 |
A |
T |
7: 44,419,071 (GRCm39) |
K383M |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
Other mutations in Dnajb8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |