Incidental Mutation 'R9066:Dnajb2'
| ID |
689246 |
| 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 |
068891-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75213050-75222336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75217874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 169
(T169A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055223]
[ENSMUST00000082158]
[ENSMUST00000185403]
[ENSMUST00000185654]
[ENSMUST00000187058]
[ENSMUST00000188290]
[ENSMUST00000188346]
[ENSMUST00000188931]
|
| AlphaFold |
Q9QYI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055223
AA Change: T151A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: T151A
| 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 damaging
Transcript: ENSMUST00000082158
AA Change: T169A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: T169A
| 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: ENSMUST00000185403
|
| SMART Domains |
Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
2.8e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185654
|
| SMART Domains |
Protein: ENSMUSP00000140456
Gene: ENSMUSG00000026203
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
1.3e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187058
AA Change: T151A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: T151A
| 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 damaging
Transcript: ENSMUST00000188290
AA Change: T169A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: T169A
| 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 damaging
Transcript: ENSMUST00000188346
AA Change: T169A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: T169A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203
AA Change: T169A
| 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: ENSMUST00000190445
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,849,188 (GRCm39) |
T1858A |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,338 (GRCm39) |
I758T |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,330,845 (GRCm39) |
E225G |
probably damaging |
Het |
| Clec7a |
A |
C |
6: 129,444,491 (GRCm39) |
S115A |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 19,098,181 (GRCm39) |
T80A |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,326,019 (GRCm39) |
H226R |
possibly damaging |
Het |
| Dctn4 |
T |
C |
18: 60,659,387 (GRCm39) |
F29L |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,631,688 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
A |
T |
2: 139,990,693 (GRCm39) |
M597K |
probably benign |
Het |
| Fzd7 |
C |
T |
1: 59,521,991 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,617,297 (GRCm39) |
Q349H |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,773,518 (GRCm39) |
|
probably benign |
Het |
| Gata5 |
A |
G |
2: 179,968,761 (GRCm39) |
F371S |
|
Het |
| Gm572 |
A |
T |
4: 148,751,278 (GRCm39) |
Q217L |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,219 (GRCm39) |
M26K |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,675,638 (GRCm39) |
M1L |
probably benign |
Het |
| Kcnj14 |
G |
A |
7: 45,469,073 (GRCm39) |
T144M |
probably damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,153,454 (GRCm39) |
A302S |
probably damaging |
Het |
| Klhl29 |
C |
T |
12: 5,260,114 (GRCm39) |
V35I |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lgi4 |
A |
C |
7: 30,759,446 (GRCm39) |
M1L |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,347,552 (GRCm39) |
D276G |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,825,782 (GRCm39) |
M619K |
probably benign |
Het |
| Nudcd1 |
A |
T |
15: 44,243,588 (GRCm39) |
F441I |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,253 (GRCm39) |
Y125* |
probably null |
Het |
| Or8b12 |
T |
G |
9: 37,657,871 (GRCm39) |
V147G |
possibly damaging |
Het |
| Pop1 |
A |
T |
15: 34,516,060 (GRCm39) |
Q586L |
possibly damaging |
Het |
| Prss3b |
C |
T |
6: 41,008,640 (GRCm39) |
G225R |
probably benign |
Het |
| Rcbtb1 |
T |
G |
14: 59,462,206 (GRCm39) |
I279S |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Serpine3 |
A |
G |
14: 62,929,555 (GRCm39) |
D401G |
probably damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,662,115 (GRCm39) |
V181A |
probably damaging |
Het |
| Slc26a2 |
T |
G |
18: 61,335,130 (GRCm39) |
I108L |
probably benign |
Het |
| Slc27a5 |
A |
C |
7: 12,722,530 (GRCm39) |
V648G |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,250,872 (GRCm39) |
F431S |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,422 (GRCm39) |
H329R |
possibly damaging |
Het |
| Speg |
G |
A |
1: 75,361,654 (GRCm39) |
G223R |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,911,133 (GRCm39) |
H171Y |
possibly damaging |
Het |
| Tle6 |
G |
T |
10: 81,430,212 (GRCm39) |
N323K |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,367,384 (GRCm39) |
M376L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,957,561 (GRCm39) |
K798R |
probably benign |
Het |
| Vasp |
A |
T |
7: 18,998,433 (GRCm39) |
H80Q |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,596 (GRCm39) |
D217G |
probably damaging |
Het |
| Vps41 |
T |
C |
13: 19,008,018 (GRCm39) |
S284P |
probably damaging |
Het |
| Zer1 |
A |
C |
2: 30,000,686 (GRCm39) |
L245R |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,973,964 (GRCm39) |
R54L |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,292 (GRCm39) |
K348E |
probably damaging |
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 |
|
|
R4105:Dnajb2
|
UTSW |
1 |
75,213,543 (GRCm39) |
nonsense |
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGCAAATCCCGAGTCTTG -3'
(R):5'- TGGAAGACGGCACAGTTCAG -3'
Sequencing Primer
(F):5'- AAATCCCGAGTCTTGGAATCCTGG -3'
(R):5'- TTCAGTCAGTGAGCAGACCTCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation