Incidental Mutation 'R7963:Dnajc1'
| ID |
650202 |
| 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 |
046006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18210445-18402025 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18227535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 377
(T377I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088980
(fasta)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000091418
AA Change: T377I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: T377I
| 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 |
possibly damaging
Transcript: ENSMUST00000166495
AA Change: T377I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: T377I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740
AA Change: T181I
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,340,673 (GRCm39) |
K101E |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,948,137 (GRCm39) |
K678R |
possibly damaging |
Het |
| Akr1b10 |
G |
C |
6: 34,364,643 (GRCm39) |
A35P |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,306,736 (GRCm39) |
E106G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,732 (GRCm39) |
Y445C |
probably damaging |
Het |
| Btbd18 |
T |
C |
2: 84,498,239 (GRCm39) |
S626P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,171,967 (GRCm39) |
N1738K |
probably damaging |
Het |
| Cdv3 |
T |
C |
9: 103,241,210 (GRCm39) |
D119G |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,737 (GRCm39) |
F1240L |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Ctsr |
C |
A |
13: 61,310,276 (GRCm39) |
V127L |
probably damaging |
Het |
| Dlg1 |
G |
A |
16: 31,609,119 (GRCm39) |
R271Q |
probably null |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,366 (GRCm39) |
D433E |
probably damaging |
Het |
| F2rl3 |
T |
C |
8: 73,489,333 (GRCm39) |
Y187H |
probably damaging |
Het |
| Fgf1 |
A |
T |
18: 38,980,167 (GRCm39) |
V69E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,844 (GRCm39) |
K171E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Il2ra |
G |
A |
2: 11,679,235 (GRCm39) |
R65H |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,817,947 (GRCm39) |
I2428V |
|
Het |
| Lrp3 |
G |
A |
7: 34,902,404 (GRCm39) |
Q579* |
probably null |
Het |
| Ncoa6 |
G |
A |
2: 155,247,916 (GRCm39) |
T1796I |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,359 (GRCm39) |
I747V |
probably benign |
Het |
| Nfkb2 |
C |
T |
19: 46,298,358 (GRCm39) |
T554M |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,116,127 (GRCm39) |
D119G |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,816,112 (GRCm39) |
Q720K |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,846,003 (GRCm39) |
V243A |
possibly damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5w1b |
C |
T |
2: 87,475,769 (GRCm39) |
E233K |
probably benign |
Het |
| Or8k33 |
T |
C |
2: 86,383,639 (GRCm39) |
I276M |
possibly damaging |
Het |
| Pcx |
T |
C |
19: 4,652,034 (GRCm39) |
V94A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,694,030 (GRCm39) |
Y131N |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,487,499 (GRCm39) |
H606R |
probably benign |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,330,173 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc28a3 |
A |
G |
13: 58,724,580 (GRCm39) |
Y225H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,929,954 (GRCm39) |
M551K |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,312,182 (GRCm39) |
A231D |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,683,887 (GRCm39) |
|
probably null |
Het |
| Stac2 |
T |
C |
11: 97,932,403 (GRCm39) |
T197A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,067,174 (GRCm39) |
L4291Q |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,095,854 (GRCm39) |
D179E |
probably benign |
Het |
| Zfp597 |
T |
C |
16: 3,689,022 (GRCm39) |
D51G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,793,538 (GRCm39) |
F69L |
probably benign |
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 |
|
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 |
|
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'- TCTTTCAGAGAAAGGATCAGTAGAG -3'
(R):5'- CCTGAGCTGCTGTTAGTGAG -3'
Sequencing Primer
(F):5'- GAGGTTTTTGGGAAAACTACCATCCC -3'
(R):5'- CTCCCAAGAGTCTGAGAAGTTGGTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation