Incidental Mutation 'IGL02080:Dnajc1'
ID |
186102 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnajc1
|
Ensembl Gene |
ENSMUSG00000026740 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C1 |
Synonyms |
MTJ1, Dnajl1, ERdj1, D230036H06Rik, 4733401K02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
IGL02080
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
18210445-18402025 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 18321159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028072]
[ENSMUST00000091418]
[ENSMUST00000166495]
|
AlphaFold |
Q61712 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028072
|
SMART Domains |
Protein: ENSMUSP00000028072 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
DnaJ
|
60 |
104 |
5.4e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091418
|
SMART Domains |
Protein: ENSMUSP00000088980 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
DnaJ
|
60 |
117 |
5.73e-23 |
SMART |
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
SANT
|
324 |
375 |
2.06e-6 |
SMART |
low complexity region
|
416 |
434 |
N/A |
INTRINSIC |
low complexity region
|
438 |
451 |
N/A |
INTRINSIC |
SANT
|
491 |
543 |
3.56e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163130
|
SMART Domains |
Protein: ENSMUSP00000129176 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
DnaJ
|
34 |
78 |
5.4e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165793
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166495
|
SMART Domains |
Protein: ENSMUSP00000126321 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
DnaJ
|
60 |
117 |
5.73e-23 |
SMART |
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
SANT
|
324 |
375 |
2.06e-6 |
SMART |
low complexity region
|
416 |
434 |
N/A |
INTRINSIC |
low complexity region
|
438 |
451 |
N/A |
INTRINSIC |
SANT
|
491 |
543 |
3.56e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168723
|
SMART Domains |
Protein: ENSMUSP00000126716 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
SANT
|
129 |
180 |
2.06e-6 |
SMART |
low complexity region
|
221 |
239 |
N/A |
INTRINSIC |
low complexity region
|
243 |
256 |
N/A |
INTRINSIC |
SANT
|
296 |
348 |
3.56e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd33 |
A |
G |
7: 43,178,274 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dpysl2 |
A |
T |
14: 67,067,394 (GRCm39) |
D172E |
probably benign |
Het |
Fbxw28 |
A |
G |
9: 109,168,641 (GRCm39) |
L17P |
probably damaging |
Het |
Gprin3 |
C |
A |
6: 59,331,176 (GRCm39) |
R377M |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,791,031 (GRCm39) |
K237E |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
Snrnp48 |
A |
G |
13: 38,400,466 (GRCm39) |
D191G |
probably damaging |
Het |
Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,730,066 (GRCm39) |
|
probably benign |
Het |
Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
Other mutations in Dnajc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Dnajc1
|
APN |
2 |
18,313,713 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01301:Dnajc1
|
APN |
2 |
18,313,645 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03058:Dnajc1
|
APN |
2 |
18,222,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
ANU18:Dnajc1
|
UTSW |
2 |
18,313,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R0537:Dnajc1
|
UTSW |
2 |
18,312,767 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0630:Dnajc1
|
UTSW |
2 |
18,236,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R1187:Dnajc1
|
UTSW |
2 |
18,289,520 (GRCm39) |
missense |
probably benign |
0.01 |
R1511:Dnajc1
|
UTSW |
2 |
18,227,538 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1844:Dnajc1
|
UTSW |
2 |
18,298,838 (GRCm39) |
nonsense |
probably null |
|
R1848:Dnajc1
|
UTSW |
2 |
18,224,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R2174:Dnajc1
|
UTSW |
2 |
18,312,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R2199:Dnajc1
|
UTSW |
2 |
18,313,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Dnajc1
|
UTSW |
2 |
18,397,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R2471:Dnajc1
|
UTSW |
2 |
18,224,627 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4758:Dnajc1
|
UTSW |
2 |
18,313,757 (GRCm39) |
nonsense |
probably null |
|
R5790:Dnajc1
|
UTSW |
2 |
18,311,898 (GRCm39) |
intron |
probably benign |
|
R5802:Dnajc1
|
UTSW |
2 |
18,289,550 (GRCm39) |
missense |
probably benign |
0.41 |
R5950:Dnajc1
|
UTSW |
2 |
18,311,752 (GRCm39) |
intron |
probably benign |
|
R6049:Dnajc1
|
UTSW |
2 |
18,236,511 (GRCm39) |
splice site |
probably null |
|
R6770:Dnajc1
|
UTSW |
2 |
18,222,082 (GRCm39) |
unclassified |
probably benign |
|
R7242:Dnajc1
|
UTSW |
2 |
18,298,783 (GRCm39) |
missense |
probably benign |
0.06 |
R7462:Dnajc1
|
UTSW |
2 |
18,313,710 (GRCm39) |
missense |
probably damaging |
0.99 |
R7716:Dnajc1
|
UTSW |
2 |
18,224,684 (GRCm39) |
missense |
probably benign |
0.00 |
R7846:Dnajc1
|
UTSW |
2 |
18,224,704 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7963:Dnajc1
|
UTSW |
2 |
18,227,535 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8750:Dnajc1
|
UTSW |
2 |
18,313,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R8967:Dnajc1
|
UTSW |
2 |
18,313,757 (GRCm39) |
nonsense |
probably null |
|
R9344:Dnajc1
|
UTSW |
2 |
18,289,586 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Dnajc1
|
UTSW |
2 |
18,298,798 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2014-05-07 |