Incidental Mutation 'R4105:Dnajb2'
| ID |
321328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajb2
|
| Ensembl Gene |
ENSMUSG00000026203 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B2 |
| Synonyms |
mDj8, Dnajb10, 2700059H22Rik |
| MMRRC Submission |
040985-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75213050-75222336 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 75213543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 6
(E6*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055223]
[ENSMUST00000082158]
[ENSMUST00000180101]
[ENSMUST00000185403]
[ENSMUST00000185654]
[ENSMUST00000187058]
[ENSMUST00000188290]
[ENSMUST00000188346]
[ENSMUST00000188931]
[ENSMUST00000191271]
|
| AlphaFold |
Q9QYI5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055223
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
1.46e-29 |
SMART |
|
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
148 |
N/A |
INTRINSIC |
|
UIM
|
189 |
208 |
3.05e1 |
SMART |
|
UIM
|
232 |
251 |
5.19e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000082158
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
|
UIM
|
207 |
226 |
3.05e1 |
SMART |
|
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180101
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185403
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
2.8e-32 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185654
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000140456
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
1.3e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186600
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187058
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
1.46e-29 |
SMART |
|
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
148 |
N/A |
INTRINSIC |
|
UIM
|
189 |
208 |
3.05e1 |
SMART |
|
UIM
|
232 |
251 |
5.19e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188290
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
|
UIM
|
207 |
226 |
3.05e1 |
SMART |
|
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188346
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
|
UIM
|
207 |
226 |
3.05e1 |
SMART |
|
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188931
AA Change: E6*
|
| SMART Domains |
Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203
AA Change: E6*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
|
UIM
|
207 |
226 |
3.05e1 |
SMART |
|
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191271
|
| Meta Mutation Damage Score |
0.9665 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,647,401 (GRCm39) |
S127P |
probably benign |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,896,243 (GRCm39) |
S266G |
possibly damaging |
Het |
| Atg9a |
A |
G |
1: 75,162,603 (GRCm39) |
Y471H |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,916,058 (GRCm39) |
Q226R |
probably damaging |
Het |
| Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,039 (GRCm39) |
D329G |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,677,824 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Dchs1 |
A |
C |
7: 105,414,347 (GRCm39) |
S823A |
probably damaging |
Het |
| Eif2b3 |
G |
A |
4: 116,938,831 (GRCm39) |
G427R |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 45,489,888 (GRCm39) |
Y3600C |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,054 (GRCm39) |
F228L |
probably benign |
Het |
| Fgf7 |
T |
A |
2: 125,877,599 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,002,856 (GRCm39) |
M122L |
unknown |
Het |
| Lrrcc1 |
T |
C |
3: 14,615,388 (GRCm39) |
V73A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,247 (GRCm39) |
R1123G |
probably benign |
Het |
| Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
| Or2o1 |
A |
G |
11: 49,051,375 (GRCm39) |
H178R |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,229,679 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
T |
C |
7: 16,695,104 (GRCm39) |
S320P |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,953,175 (GRCm39) |
N1581S |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,577,567 (GRCm39) |
T344K |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,462 (GRCm39) |
F514L |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,408,828 (GRCm39) |
T1895N |
probably damaging |
Het |
| Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,945,075 (GRCm39) |
L150Q |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,950,449 (GRCm39) |
F347S |
probably damaging |
Het |
| Smim13 |
T |
A |
13: 41,426,127 (GRCm39) |
D54E |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,069,936 (GRCm39) |
I1027N |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,181,265 (GRCm39) |
I429T |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,860,581 (GRCm39) |
R254* |
probably null |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,691 (GRCm39) |
V331A |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,265 (GRCm39) |
S82P |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,618,667 (GRCm39) |
L55P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,437 (GRCm39) |
D173G |
probably benign |
Het |
|
| Other mutations in Dnajb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Dnajb2
|
APN |
1 |
75,213,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Dnajb2
|
UTSW |
1 |
75,216,278 (GRCm39) |
unclassified |
probably benign |
|
|
R2118:Dnajb2
|
UTSW |
1 |
75,214,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Dnajb2
|
UTSW |
1 |
75,218,124 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3838:Dnajb2
|
UTSW |
1 |
75,218,124 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3839:Dnajb2
|
UTSW |
1 |
75,218,124 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4108:Dnajb2
|
UTSW |
1 |
75,213,543 (GRCm39) |
nonsense |
probably null |
|
|
R4858:Dnajb2
|
UTSW |
1 |
75,220,198 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7115:Dnajb2
|
UTSW |
1 |
75,220,306 (GRCm39) |
missense |
|
|
|
R7960:Dnajb2
|
UTSW |
1 |
75,218,055 (GRCm39) |
missense |
|
|
|
R8248:Dnajb2
|
UTSW |
1 |
75,220,226 (GRCm39) |
missense |
|
|
|
R8512:Dnajb2
|
UTSW |
1 |
75,218,075 (GRCm39) |
missense |
|
|
|
R8537:Dnajb2
|
UTSW |
1 |
75,216,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Dnajb2
|
UTSW |
1 |
75,217,874 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTCAGATCGGGTTACTAGAC -3'
(R):5'- TGGTCTTCGTACTTTCCCAAGG -3'
Sequencing Primer
(F):5'- CAGATCGGGTTACTAGACTTAGG -3'
(R):5'- CGTACTTTCCCAAGGGTCTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation