Incidental Mutation 'IGL03058:Dnajc1'
| ID |
409326 |
| 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 # |
IGL03058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
18210445-18402025 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18222132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028072]
[ENSMUST00000028076]
[ENSMUST00000091418]
[ENSMUST00000114669]
[ENSMUST00000114671]
[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: ENSMUST00000028076
|
| SMART Domains |
Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
24 |
72 |
8.51e-8 |
SMART |
|
PHD
|
136 |
195 |
2.92e-6 |
SMART |
|
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
692 |
N/A |
INTRINSIC |
|
coiled coil region
|
741 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
966 |
986 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091418
AA Change: D532G
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
AA Change: D532G
| 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: ENSMUST00000114669
|
| SMART Domains |
Protein: ENSMUSP00000110317
Gene: ENSMUSG00000026743
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
149 |
N/A |
INTRINSIC |
|
coiled coil region
|
198 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114671
|
| SMART Domains |
Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
58 |
117 |
2.92e-6 |
SMART |
|
low complexity region
|
139 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
614 |
N/A |
INTRINSIC |
|
coiled coil region
|
663 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148401
AA Change: D37G
|
| SMART Domains |
Protein: ENSMUSP00000132289
Gene: ENSMUSG00000026740
AA Change: D37G
| 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 |
possibly damaging
Transcript: ENSMUST00000166495
AA Change: D532G
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740
AA Change: D532G
| 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 |
unknown
Transcript: ENSMUST00000168723
AA Change: D336G
|
| SMART Domains |
Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740
AA Change: D336G
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164835
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
| Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
| Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
| B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
| Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
| Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
| Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
| Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
| Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
| Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
| Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
| Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
| Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
| Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
| Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
| Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
| Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation