Incidental Mutation 'R8967:Dnajc1'
| ID |
682778 |
| 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 |
068801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
18210445-18402025 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 18313757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 121
(Y121*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028072]
[ENSMUST00000091418]
[ENSMUST00000166495]
|
| AlphaFold |
Q61712 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028072
AA Change: *106R
|
| SMART Domains |
Protein: ENSMUSP00000028072
Gene: ENSMUSG00000026740
AA Change: *106R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
DnaJ
|
60 |
104 |
5.4e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000091418
AA Change: Y121*
|
| SMART Domains |
Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: Y121*
| 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 null
Transcript: ENSMUST00000163130
AA Change: *79R
|
| SMART Domains |
Protein: ENSMUSP00000129176
Gene: ENSMUSG00000026740
AA Change: *79R
| 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: ENSMUST00000164606
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164835
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166495
AA Change: Y121*
|
| SMART Domains |
Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: Y121*
| 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,242,696 (GRCm39) |
S1520P |
probably benign |
Het |
| Abhd12 |
A |
G |
2: 150,679,351 (GRCm39) |
Y291H |
probably damaging |
Het |
| Abr |
C |
A |
11: 76,369,855 (GRCm39) |
S178I |
possibly damaging |
Het |
| Akap13 |
T |
A |
7: 75,378,882 (GRCm39) |
I422K |
possibly damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,677,662 (GRCm39) |
T185S |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,286,341 (GRCm39) |
Y228N |
probably damaging |
Het |
| B4gat1 |
T |
C |
19: 5,089,678 (GRCm39) |
V225A |
probably damaging |
Het |
| Brf1 |
G |
A |
12: 112,937,239 (GRCm39) |
P183S |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,163,297 (GRCm39) |
N312S |
possibly damaging |
Het |
| Cep135 |
T |
C |
5: 76,751,165 (GRCm39) |
L337P |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,265 (GRCm39) |
C334* |
probably null |
Het |
| Cpxm2 |
A |
T |
7: 131,661,564 (GRCm39) |
Y408N |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,014,577 (GRCm39) |
Y287H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,682,594 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,015,938 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
A |
3: 145,761,395 (GRCm39) |
N654Y |
possibly damaging |
Het |
| Ecel1 |
A |
T |
1: 87,078,862 (GRCm39) |
Y526N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,199,132 (GRCm39) |
V218E |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,790,738 (GRCm39) |
|
probably null |
Het |
| Hsd17b7 |
A |
T |
1: 169,796,685 (GRCm39) |
L6* |
probably null |
Het |
| Irgc |
T |
A |
7: 24,132,737 (GRCm39) |
T27S |
probably benign |
Het |
| Lama3 |
A |
C |
18: 12,665,096 (GRCm39) |
I671L |
possibly damaging |
Het |
| Mybl2 |
T |
C |
2: 162,914,806 (GRCm39) |
L308P |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp1 |
G |
A |
2: 127,582,897 (GRCm39) |
P672L |
probably damaging |
Het |
| Oas3 |
G |
A |
5: 120,896,907 (GRCm39) |
H905Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,972,740 (GRCm39) |
V2102A |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,039 (GRCm39) |
T39A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,066 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,073 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,844 (GRCm39) |
Y32* |
probably null |
Het |
| Or6z7 |
A |
G |
7: 6,484,011 (GRCm39) |
L48P |
possibly damaging |
Het |
| Pank4 |
C |
G |
4: 155,055,415 (GRCm39) |
H262D |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,756,063 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,324 (GRCm39) |
T286M |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,434,744 (GRCm39) |
D79V |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,056,854 (GRCm39) |
T682A |
possibly damaging |
Het |
| Sec24b |
C |
T |
3: 129,785,084 (GRCm39) |
R974Q |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,020,419 (GRCm39) |
F230L |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,729,701 (GRCm39) |
L850* |
probably null |
Het |
| Slc7a11 |
C |
A |
3: 50,338,564 (GRCm39) |
V282L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,765,739 (GRCm39) |
S1895P |
unknown |
Het |
| Tango2 |
A |
G |
16: 18,165,763 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
G |
A |
7: 118,160,228 (GRCm39) |
P203L |
probably benign |
Het |
| Tmem64 |
T |
A |
4: 15,266,575 (GRCm39) |
F208L |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,694,023 (GRCm39) |
V191E |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,370,587 (GRCm39) |
I675V |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,804,726 (GRCm39) |
S382P |
probably damaging |
Het |
| Zfp932 |
A |
G |
5: 110,156,883 (GRCm39) |
S194G |
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 |
|
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 |
|
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'- TCCAGTACTCACCAGTTGCTTT -3'
(R):5'- CACAGTTGTTAAGTCTATGAGATACAT -3'
Sequencing Primer
(F):5'- CACCAGTTGCTTTTCCAGGTAGATG -3'
(R):5'- CTCTGCTACATATGCAGCTAGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation