Incidental Mutation 'R5539:Dnajc3'
| ID |
435841 |
| 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 |
043097-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R5539 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
119175388-119219109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119208159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 265
(V265M)
|
| 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 damaging
Transcript: ENSMUST00000022734
AA Change: V265M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022734
Gene: ENSMUSG00000022136
AA Change: V265M
| 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: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,917 (GRCm39) |
S44C |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,963,557 (GRCm39) |
I846V |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,111,932 (GRCm39) |
L144H |
probably benign |
Het |
| Ccdc141 |
A |
T |
2: 76,845,437 (GRCm39) |
I1210N |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,191,587 (GRCm39) |
T330A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,486 (GRCm39) |
K2444E |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,753 (GRCm39) |
Y2222N |
unknown |
Het |
| Flnc |
G |
T |
6: 29,446,229 (GRCm39) |
G882V |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,032,514 (GRCm39) |
V39D |
probably damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,281,758 (GRCm39) |
H371L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,030,438 (GRCm39) |
H33L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,646 (GRCm39) |
|
noncoding transcript |
Het |
| Kri1 |
G |
A |
9: 21,190,668 (GRCm39) |
Q280* |
probably null |
Het |
| Lcp1 |
T |
C |
14: 75,466,738 (GRCm39) |
V615A |
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,027,149 (GRCm39) |
Y407C |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,164,317 (GRCm39) |
V416A |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,044,898 (GRCm39) |
R1607C |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,056,525 (GRCm39) |
|
probably null |
Het |
| Ntf5 |
G |
T |
7: 45,065,354 (GRCm39) |
R162L |
probably benign |
Het |
| Nxpe3 |
A |
G |
16: 55,711,034 (GRCm39) |
W2R |
possibly damaging |
Het |
| Or10d1c |
T |
C |
9: 38,893,573 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or14j4 |
T |
A |
17: 37,921,646 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
G |
A |
9: 18,666,134 (GRCm39) |
R266C |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,433 (GRCm39) |
C115S |
probably benign |
Het |
| Pan2 |
C |
A |
10: 128,144,002 (GRCm39) |
D99E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,797 (GRCm39) |
H776R |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,264 (GRCm39) |
H1342R |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,394,464 (GRCm39) |
T1800A |
probably benign |
Het |
| Prss40 |
T |
C |
1: 34,591,760 (GRCm39) |
*148W |
probably null |
Het |
| Pygo1 |
C |
T |
9: 72,852,061 (GRCm39) |
P83S |
probably damaging |
Het |
| Raf1 |
G |
T |
6: 115,596,317 (GRCm39) |
S619R |
probably damaging |
Het |
| Rtf1 |
A |
G |
2: 119,560,405 (GRCm39) |
M596V |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,829,126 (GRCm39) |
D578E |
possibly damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,153,737 (GRCm39) |
V18A |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,070,783 (GRCm39) |
I977K |
probably benign |
Het |
| Tor2a |
T |
C |
2: 32,650,672 (GRCm39) |
I222T |
probably damaging |
Het |
| Trim23 |
T |
C |
13: 104,334,541 (GRCm39) |
V347A |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,851,386 (GRCm39) |
S893P |
probably damaging |
Het |
| Trmt10c |
G |
A |
16: 55,855,324 (GRCm39) |
P104S |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,850,877 (GRCm39) |
Y1765F |
probably damaging |
Het |
| Zfp951 |
C |
T |
5: 104,962,712 (GRCm39) |
E285K |
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 |
|
|
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 |
|
|
R8092:Dnajc3
|
UTSW |
14 |
119,207,994 (GRCm39) |
splice site |
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'- CTGTGTCTATGAGACCATGTGTC -3'
(R):5'- ATGGCTGCTAGTAAGGATGC -3'
Sequencing Primer
(F):5'- GTCAGCATGTTTTCATCATCCCAAAG -3'
(R):5'- GCTAGTAAGGATGCTATGCAGTTAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation