Incidental Mutation 'R4020:Dnajc10'
| ID |
312716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc10
|
| Ensembl Gene |
ENSMUSG00000027006 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C10 |
| Synonyms |
1200006L06Rik, JPDI, ERdj5, D2Ertd706e |
| MMRRC Submission |
040954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R4020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
80145810-80184387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80175296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 561
(L561P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028392]
|
| AlphaFold |
Q9DC23 |
| PDB Structure |
Crystal structure of full-length ERdj5 [X-RAY DIFFRACTION]
Crystal structure of J-Trx1 fragment of ERdj5 [X-RAY DIFFRACTION]
Crystal structure of Trx4 domain of ERdj5 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028392
AA Change: L561P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: L561P
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
34 |
92 |
9.73e-26 |
SMART |
|
Pfam:Thioredoxin
|
130 |
232 |
5.6e-21 |
PFAM |
|
low complexity region
|
384 |
392 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
454 |
553 |
2.3e-21 |
PFAM |
|
Pfam:Thioredoxin
|
557 |
663 |
2e-21 |
PFAM |
|
Pfam:Thioredoxin
|
672 |
776 |
5.8e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154912
|
| Meta Mutation Damage Score |
0.9449 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
C |
8: 89,035,362 (GRCm39) |
V89L |
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,388 (GRCm39) |
T206I |
probably benign |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Apob |
C |
T |
12: 8,044,914 (GRCm39) |
Q845* |
probably null |
Het |
| Asb4 |
A |
G |
6: 5,390,803 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,066,724 (GRCm39) |
|
probably benign |
Het |
| C1ra |
A |
T |
6: 124,496,736 (GRCm39) |
T391S |
probably benign |
Het |
| Catsperg2 |
C |
A |
7: 29,416,429 (GRCm39) |
D328Y |
probably damaging |
Het |
| Ciapin1 |
G |
T |
8: 95,555,814 (GRCm39) |
L119M |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,077,765 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,407 (GRCm39) |
S455P |
probably benign |
Het |
| Dctn4 |
G |
A |
18: 60,671,329 (GRCm39) |
|
probably benign |
Het |
| Defa25 |
C |
T |
8: 21,575,245 (GRCm39) |
R75C |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,482,292 (GRCm39) |
F185L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,844,267 (GRCm39) |
I1175V |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,837,422 (GRCm39) |
L302R |
possibly damaging |
Het |
| Efcab5 |
C |
T |
11: 76,994,930 (GRCm39) |
V1214I |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,419,686 (GRCm39) |
R260H |
probably damaging |
Het |
| Fam168b |
T |
C |
1: 34,867,860 (GRCm39) |
T47A |
possibly damaging |
Het |
| Gorasp1 |
G |
A |
9: 119,757,936 (GRCm39) |
R290C |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,539,351 (GRCm39) |
S94P |
possibly damaging |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,202,693 (GRCm39) |
I446V |
probably benign |
Het |
| Krtap5-1 |
T |
C |
7: 141,850,094 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,764,804 (GRCm39) |
I17L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,278 (GRCm39) |
M526T |
probably damaging |
Het |
| Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,767,454 (GRCm39) |
T221A |
probably benign |
Het |
| Muc21 |
T |
C |
17: 35,930,953 (GRCm39) |
|
probably benign |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,325,407 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,790 (GRCm39) |
K287Q |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,606,723 (GRCm39) |
H259R |
probably damaging |
Het |
| Pllp |
C |
A |
8: 95,406,072 (GRCm39) |
M70I |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,926 (GRCm39) |
T334A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,968,894 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,959,623 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,455,390 (GRCm39) |
S170G |
probably damaging |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,638 (GRCm39) |
K56R |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,179,116 (GRCm39) |
C3322G |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,182 (GRCm39) |
Y608H |
probably damaging |
Het |
| Zfand1 |
A |
C |
3: 10,405,816 (GRCm39) |
N262K |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
probably damaging |
Het |
|
| Other mutations in Dnajc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:Dnajc10
|
APN |
2 |
80,155,096 (GRCm39) |
splice site |
probably benign |
|
|
IGL01420:Dnajc10
|
APN |
2 |
80,175,367 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01466:Dnajc10
|
APN |
2 |
80,151,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01645:Dnajc10
|
APN |
2 |
80,170,871 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01929:Dnajc10
|
APN |
2 |
80,158,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01958:Dnajc10
|
APN |
2 |
80,151,648 (GRCm39) |
splice site |
probably benign |
|
|
IGL02205:Dnajc10
|
APN |
2 |
80,179,702 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02289:Dnajc10
|
APN |
2 |
80,170,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02661:Dnajc10
|
APN |
2 |
80,157,084 (GRCm39) |
splice site |
probably benign |
|
|
IGL02865:Dnajc10
|
APN |
2 |
80,161,647 (GRCm39) |
missense |
probably benign |
|
|
IGL03026:Dnajc10
|
APN |
2 |
80,179,647 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03407:Dnajc10
|
APN |
2 |
80,176,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Dnajc10
|
UTSW |
2 |
80,161,739 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0092:Dnajc10
|
UTSW |
2 |
80,156,026 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0457:Dnajc10
|
UTSW |
2 |
80,175,290 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1414:Dnajc10
|
UTSW |
2 |
80,178,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1739:Dnajc10
|
UTSW |
2 |
80,178,006 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2126:Dnajc10
|
UTSW |
2 |
80,181,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3717:Dnajc10
|
UTSW |
2 |
80,155,089 (GRCm39) |
splice site |
probably benign |
|
|
R3718:Dnajc10
|
UTSW |
2 |
80,155,089 (GRCm39) |
splice site |
probably benign |
|
|
R4453:Dnajc10
|
UTSW |
2 |
80,176,967 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4585:Dnajc10
|
UTSW |
2 |
80,178,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Dnajc10
|
UTSW |
2 |
80,178,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Dnajc10
|
UTSW |
2 |
80,170,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5653:Dnajc10
|
UTSW |
2 |
80,179,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Dnajc10
|
UTSW |
2 |
80,147,735 (GRCm39) |
start gained |
probably benign |
|
|
R6263:Dnajc10
|
UTSW |
2 |
80,174,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6303:Dnajc10
|
UTSW |
2 |
80,181,008 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6932:Dnajc10
|
UTSW |
2 |
80,161,680 (GRCm39) |
missense |
probably benign |
|
|
R7104:Dnajc10
|
UTSW |
2 |
80,171,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Dnajc10
|
UTSW |
2 |
80,149,587 (GRCm39) |
nonsense |
probably null |
|
|
R7458:Dnajc10
|
UTSW |
2 |
80,155,094 (GRCm39) |
splice site |
probably null |
|
|
R7842:Dnajc10
|
UTSW |
2 |
80,175,409 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8123:Dnajc10
|
UTSW |
2 |
80,179,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Dnajc10
|
UTSW |
2 |
80,179,614 (GRCm39) |
missense |
probably benign |
|
|
R8365:Dnajc10
|
UTSW |
2 |
80,176,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Dnajc10
|
UTSW |
2 |
80,147,801 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9025:Dnajc10
|
UTSW |
2 |
80,179,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Dnajc10
|
UTSW |
2 |
80,163,315 (GRCm39) |
missense |
probably benign |
|
|
R9262:Dnajc10
|
UTSW |
2 |
80,176,965 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9292:Dnajc10
|
UTSW |
2 |
80,176,916 (GRCm39) |
missense |
probably benign |
|
|
R9332:Dnajc10
|
UTSW |
2 |
80,175,327 (GRCm39) |
missense |
probably benign |
0.35 |
|
X0018:Dnajc10
|
UTSW |
2 |
80,181,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0024:Dnajc10
|
UTSW |
2 |
80,175,306 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Dnajc10
|
UTSW |
2 |
80,149,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCACACTTTCCTCTAGGATAC -3'
(R):5'- ACTGTGAAGCAAACACTGGC -3'
Sequencing Primer
(F):5'- AGGATACCTCTTTTTCCAGCTTACAG -3'
(R):5'- CTGTGAAGCAAACACTGGCAGTAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation