Incidental Mutation 'R8092:Dnajc3'
| ID |
652002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc3
|
| Ensembl Gene |
ENSMUSG00000022136 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C3 |
| Synonyms |
Dnajc3, Dnajc3a, mp58, Dnajc3b, Prkri, p58IPK |
| MMRRC Submission |
067524-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R8092 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
119175388-119219109 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 119207994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022734]
|
| AlphaFold |
Q91YW3 |
| PDB Structure |
Crystal Structure of P58(IPK) TPR Domain at 2.5 A [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000022734
|
| SMART Domains |
Protein: ENSMUSP00000022734
Gene: ENSMUSG00000022136
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
37 |
70 |
2.02e1 |
SMART |
|
TPR
|
71 |
104 |
2.52e-1 |
SMART |
|
TPR
|
105 |
138 |
4.99e-5 |
SMART |
|
TPR
|
188 |
221 |
1.16e0 |
SMART |
|
TPR
|
222 |
255 |
4.96e0 |
SMART |
|
TPR
|
306 |
339 |
4.1e1 |
SMART |
|
TPR
|
340 |
373 |
6.58e-5 |
SMART |
|
DnaJ
|
393 |
454 |
6.88e-26 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice are smaller in size, have a lower percentage of body fat and develop a gradual onset of glucosuria and hyperglycemia associated with increasing apoptosis of pancreatic islet cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,427,831 (GRCm39) |
S483P |
possibly damaging |
Het |
| Agr3 |
T |
A |
12: 35,997,593 (GRCm39) |
|
probably null |
Het |
| Anxa4 |
T |
C |
6: 86,718,873 (GRCm39) |
D282G |
probably damaging |
Het |
| Aplp2 |
A |
C |
9: 31,074,640 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,701,754 (GRCm39) |
V714M |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,278 (GRCm39) |
F1393I |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,728,897 (GRCm39) |
P3S |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,261 (GRCm39) |
D1410E |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,184 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,612,938 (GRCm39) |
V121A |
possibly damaging |
Het |
| Dpys |
C |
T |
15: 39,710,010 (GRCm39) |
D140N |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,415,029 (GRCm39) |
Y642C |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,272,513 (GRCm39) |
V901I |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,057,823 (GRCm39) |
M1127T |
unknown |
Het |
| Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,456 (GRCm39) |
D281V |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,672 (GRCm39) |
Q509L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,726,880 (GRCm39) |
D52E |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,287,867 (GRCm39) |
Y27C |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,299 (GRCm39) |
T105I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,891 (GRCm39) |
K1279E |
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,819 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ntn4 |
A |
C |
10: 93,576,918 (GRCm39) |
K529Q |
probably damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,652 (GRCm39) |
M255I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,867 (GRCm39) |
V198M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,560 (GRCm39) |
D2139E |
unknown |
Het |
| Plxnb1 |
T |
A |
9: 108,929,573 (GRCm39) |
V143E |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,357 (GRCm39) |
D954Y |
probably damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,760,749 (GRCm39) |
P278L |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,724,479 (GRCm39) |
R1108C |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,907 (GRCm39) |
S1716G |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,079,831 (GRCm39) |
H507L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,685 (GRCm39) |
E416G |
probably damaging |
Het |
| Srp9 |
T |
C |
1: 181,959,001 (GRCm39) |
V81A |
probably benign |
Het |
| Tex101 |
G |
A |
7: 24,369,778 (GRCm39) |
T62M |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,802,671 (GRCm39) |
L349F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zbtb42 |
G |
T |
12: 112,646,275 (GRCm39) |
C150F |
probably damaging |
Het |
|
| Other mutations in Dnajc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Dnajc3
|
APN |
14 |
119,198,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
ghostly
|
UTSW |
14 |
119,208,192 (GRCm39) |
nonsense |
probably null |
|
|
vanishing
|
UTSW |
14 |
119,209,799 (GRCm39) |
nonsense |
probably null |
|
|
R1438:Dnajc3
|
UTSW |
14 |
119,205,518 (GRCm39) |
missense |
probably benign |
|
|
R1712:Dnajc3
|
UTSW |
14 |
119,195,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Dnajc3
|
UTSW |
14 |
119,210,114 (GRCm39) |
missense |
probably benign |
|
|
R2261:Dnajc3
|
UTSW |
14 |
119,198,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2262:Dnajc3
|
UTSW |
14 |
119,198,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2307:Dnajc3
|
UTSW |
14 |
119,190,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4963:Dnajc3
|
UTSW |
14 |
119,215,585 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4996:Dnajc3
|
UTSW |
14 |
119,209,839 (GRCm39) |
missense |
probably benign |
|
|
R5398:Dnajc3
|
UTSW |
14 |
119,209,799 (GRCm39) |
nonsense |
probably null |
|
|
R5539:Dnajc3
|
UTSW |
14 |
119,208,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5988:Dnajc3
|
UTSW |
14 |
119,195,376 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6032:Dnajc3
|
UTSW |
14 |
119,205,443 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6032:Dnajc3
|
UTSW |
14 |
119,205,443 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7361:Dnajc3
|
UTSW |
14 |
119,175,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7486:Dnajc3
|
UTSW |
14 |
119,209,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8086:Dnajc3
|
UTSW |
14 |
119,208,192 (GRCm39) |
nonsense |
probably null |
|
|
R8517:Dnajc3
|
UTSW |
14 |
119,190,589 (GRCm39) |
nonsense |
probably null |
|
|
R9685:Dnajc3
|
UTSW |
14 |
119,209,775 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTGAATATCCACTTGGGTTAC -3'
(R):5'- CATCTCGGATCAGCTCTTCAG -3'
Sequencing Primer
(F):5'- TGGGTTACCCCTAGGGTAT -3'
(R):5'- TGACTCAATCAGCTTGTTAAGTTTC -3'
|
| Posted On |
2020-09-18 |
Incidental Mutation