Incidental Mutation 'R2471:Dnajc1'
ID |
253064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajc1
|
Ensembl Gene |
ENSMUSG00000026740 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C1 |
Synonyms |
MTJ1, Dnajl1, ERdj1, D230036H06Rik, 4733401K02Rik |
MMRRC Submission |
040403-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R2471 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
18210445-18402025 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18224627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 213
(I213V)
|
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
AA Change: I409V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000088980 Gene: ENSMUSG00000026740 AA Change: I409V
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: ENSMUST00000148401
|
SMART Domains |
Protein: ENSMUSP00000132289 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
SANT
|
2 |
49 |
1.74e-4 |
SMART |
|
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 |
probably benign
Transcript: ENSMUST00000164835
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166495
AA Change: I409V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000126321 Gene: ENSMUSG00000026740 AA Change: I409V
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 |
possibly damaging
Transcript: ENSMUST00000168723
AA Change: I213V
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126716 Gene: ENSMUSG00000026740 AA Change: I213V
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172210
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
possibly 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 |
IGL02080:Dnajc1
|
APN |
2 |
18,321,159 (GRCm39) |
intron |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTCACTGGAATCGTTTTGTTC -3'
(R):5'- GAGAATGCCTTCCCTTGTGG -3'
Sequencing Primer
(F):5'- ATATCAAAGTCTTTTTGCCTCTTTCC -3'
(R):5'- CTGGGGTGTTCCTAGTGAAGAAG -3'
|
Posted On |
2014-12-04 |