Incidental Mutation 'R5160:Dnaja3'
| ID |
396961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaja3
|
| Ensembl Gene |
ENSMUSG00000004069 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member A3 |
| Synonyms |
1810053A11Rik, Tid-1, 1200003J13Rik |
| MMRRC Submission |
042742-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5160 (G1)
|
| Quality Score |
139 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4501934-4525559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4502152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 52
(M52K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038552]
[ENSMUST00000060067]
[ENSMUST00000090480]
[ENSMUST00000115854]
[ENSMUST00000135823]
[ENSMUST00000229529]
|
| AlphaFold |
Q99M87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038552
|
| SMART Domains |
Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
|
WD40
|
66 |
106 |
1.83e-7 |
SMART |
|
WD40
|
115 |
154 |
4.13e0 |
SMART |
|
WD40
|
157 |
196 |
1.78e-5 |
SMART |
|
DUF1900
|
251 |
385 |
4.49e-60 |
SMART |
|
low complexity region
|
427 |
456 |
N/A |
INTRINSIC |
|
DUF1899
|
463 |
528 |
1.2e-19 |
SMART |
|
WD40
|
531 |
570 |
3.64e-2 |
SMART |
|
WD40
|
580 |
620 |
8.55e-8 |
SMART |
|
WD40
|
623 |
662 |
1.16e-9 |
SMART |
|
low complexity region
|
667 |
679 |
N/A |
INTRINSIC |
|
DUF1900
|
718 |
854 |
6.69e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060067
AA Change: M52K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: M52K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
DnaJ
|
92 |
150 |
4.57e-31 |
SMART |
|
Pfam:DnaJ_C
|
209 |
413 |
4.4e-23 |
PFAM |
|
Pfam:DnaJ_CXXCXGXG
|
236 |
296 |
2.4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090480
|
| SMART Domains |
Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
|
WD40
|
66 |
106 |
1.83e-7 |
SMART |
|
WD40
|
115 |
154 |
4.13e0 |
SMART |
|
WD40
|
157 |
196 |
1.78e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115854
AA Change: M52K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: M52K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
DnaJ
|
92 |
150 |
4.57e-31 |
SMART |
|
Pfam:DnaJ_CXXCXGXG
|
236 |
296 |
3.9e-14 |
PFAM |
|
Pfam:CTDII
|
345 |
423 |
1.5e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135823
|
| SMART Domains |
Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
|
WD40
|
66 |
106 |
1.83e-7 |
SMART |
|
WD40
|
115 |
154 |
4.13e0 |
SMART |
|
WD40
|
157 |
196 |
1.78e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144815
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229529
AA Change: M52K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Early embryonic development of homozygous null embryos is disrupted. Blastocysts develop and implant but die afterwards. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
| Ano9 |
G |
A |
7: 140,684,278 (GRCm39) |
R495C |
probably damaging |
Het |
| Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
| Arhgap42 |
T |
G |
9: 8,997,656 (GRCm39) |
K823T |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
| Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
| Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
| Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
| Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
A |
15: 76,547,177 (GRCm39) |
L251Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
| Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
| Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
| Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
| Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,382 (GRCm39) |
S81P |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,480 (GRCm39) |
V74A |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
| Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
| Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
| Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,763,977 (GRCm39) |
N1354K |
probably damaging |
Het |
| Zscan20 |
A |
G |
4: 128,486,275 (GRCm39) |
S142P |
possibly damaging |
Het |
|
| Other mutations in Dnaja3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Dnaja3
|
APN |
16 |
4,512,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01531:Dnaja3
|
APN |
16 |
4,512,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01607:Dnaja3
|
APN |
16 |
4,511,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Dnaja3
|
APN |
16 |
4,519,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02312:Dnaja3
|
APN |
16 |
4,512,300 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02473:Dnaja3
|
APN |
16 |
4,519,104 (GRCm39) |
nonsense |
probably null |
|
|
IGL02795:Dnaja3
|
APN |
16 |
4,507,937 (GRCm39) |
splice site |
probably benign |
|
|
R1334:Dnaja3
|
UTSW |
16 |
4,517,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Dnaja3
|
UTSW |
16 |
4,502,029 (GRCm39) |
missense |
probably null |
0.02 |
|
R1733:Dnaja3
|
UTSW |
16 |
4,502,029 (GRCm39) |
missense |
probably null |
0.02 |
|
R1854:Dnaja3
|
UTSW |
16 |
4,515,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2330:Dnaja3
|
UTSW |
16 |
4,507,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4232:Dnaja3
|
UTSW |
16 |
4,517,735 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4357:Dnaja3
|
UTSW |
16 |
4,517,731 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4434:Dnaja3
|
UTSW |
16 |
4,507,859 (GRCm39) |
nonsense |
probably null |
|
|
R5072:Dnaja3
|
UTSW |
16 |
4,514,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5073:Dnaja3
|
UTSW |
16 |
4,514,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5074:Dnaja3
|
UTSW |
16 |
4,514,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5174:Dnaja3
|
UTSW |
16 |
4,502,161 (GRCm39) |
missense |
probably benign |
|
|
R5347:Dnaja3
|
UTSW |
16 |
4,512,346 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7106:Dnaja3
|
UTSW |
16 |
4,523,798 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7214:Dnaja3
|
UTSW |
16 |
4,519,046 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7673:Dnaja3
|
UTSW |
16 |
4,512,328 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8069:Dnaja3
|
UTSW |
16 |
4,502,131 (GRCm39) |
missense |
probably benign |
|
|
R8154:Dnaja3
|
UTSW |
16 |
4,517,740 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8477:Dnaja3
|
UTSW |
16 |
4,505,212 (GRCm39) |
missense |
probably null |
0.68 |
|
R8811:Dnaja3
|
UTSW |
16 |
4,514,383 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9128:Dnaja3
|
UTSW |
16 |
4,520,164 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGCAATGCTTACGCTCTG -3'
(R):5'- CAGAAATTCCTCTCTTGGGCCG -3'
Sequencing Primer
(F):5'- TCTGCGTGCTACGGATGC -3'
(R):5'- TCTCTTGGGCCGGAAGACATC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation