Incidental Mutation 'R6567:Dnajc2'
| ID |
522732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc2
|
| Ensembl Gene |
ENSMUSG00000029014 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C2 |
| Synonyms |
Zrf1, Zrf2, MIDA1, Mida1 |
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21962279-21990183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21971676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 247
(R247W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030771]
[ENSMUST00000115193]
[ENSMUST00000115195]
|
| AlphaFold |
P54103 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030771
AA Change: R321W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014
AA Change: R321W
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
39 |
67 |
N/A |
INTRINSIC |
|
DnaJ
|
87 |
153 |
2.16e-18 |
SMART |
|
low complexity region
|
231 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
319 |
N/A |
INTRINSIC |
|
Pfam:RAC_head
|
339 |
430 |
2.8e-24 |
PFAM |
|
SANT
|
450 |
509 |
6.64e-10 |
SMART |
|
SANT
|
550 |
602 |
2.4e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115193
AA Change: R321W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014
AA Change: R321W
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
39 |
67 |
N/A |
INTRINSIC |
|
DnaJ
|
87 |
153 |
2.16e-18 |
SMART |
|
coiled coil region
|
230 |
358 |
N/A |
INTRINSIC |
|
coiled coil region
|
404 |
445 |
N/A |
INTRINSIC |
|
SANT
|
450 |
509 |
6.64e-10 |
SMART |
|
SANT
|
550 |
602 |
1.34e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115195
AA Change: R247W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014
AA Change: R247W
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
13 |
79 |
2.16e-18 |
SMART |
|
coiled coil region
|
156 |
284 |
N/A |
INTRINSIC |
|
coiled coil region
|
330 |
371 |
N/A |
INTRINSIC |
|
SANT
|
376 |
435 |
6.64e-10 |
SMART |
|
SANT
|
476 |
528 |
2.4e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145955
|
| Meta Mutation Damage Score |
0.3522 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
Het |
|
| Other mutations in Dnajc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Dnajc2
|
APN |
5 |
21,979,974 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01479:Dnajc2
|
APN |
5 |
21,962,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01804:Dnajc2
|
APN |
5 |
21,962,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Dnajc2
|
APN |
5 |
21,981,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02552:Dnajc2
|
APN |
5 |
21,988,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Dnajc2
|
APN |
5 |
21,975,479 (GRCm39) |
splice site |
probably benign |
|
|
IGL02832:Dnajc2
|
APN |
5 |
21,965,408 (GRCm39) |
missense |
probably benign |
|
|
IGL03177:Dnajc2
|
APN |
5 |
21,980,079 (GRCm39) |
splice site |
probably benign |
|
|
R1914:Dnajc2
|
UTSW |
5 |
21,986,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1915:Dnajc2
|
UTSW |
5 |
21,986,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2024:Dnajc2
|
UTSW |
5 |
21,981,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Dnajc2
|
UTSW |
5 |
21,965,389 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4177:Dnajc2
|
UTSW |
5 |
21,962,394 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4451:Dnajc2
|
UTSW |
5 |
21,962,792 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4812:Dnajc2
|
UTSW |
5 |
21,968,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4916:Dnajc2
|
UTSW |
5 |
21,962,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Dnajc2
|
UTSW |
5 |
21,962,771 (GRCm39) |
nonsense |
probably null |
|
|
R5094:Dnajc2
|
UTSW |
5 |
21,981,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Dnajc2
|
UTSW |
5 |
21,968,482 (GRCm39) |
missense |
probably benign |
|
|
R5891:Dnajc2
|
UTSW |
5 |
21,966,709 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6192:Dnajc2
|
UTSW |
5 |
21,973,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Dnajc2
|
UTSW |
5 |
21,981,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Dnajc2
|
UTSW |
5 |
21,981,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7418:Dnajc2
|
UTSW |
5 |
21,965,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7728:Dnajc2
|
UTSW |
5 |
21,975,538 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7877:Dnajc2
|
UTSW |
5 |
21,965,637 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8156:Dnajc2
|
UTSW |
5 |
21,986,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8231:Dnajc2
|
UTSW |
5 |
21,966,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8360:Dnajc2
|
UTSW |
5 |
21,962,705 (GRCm39) |
missense |
unknown |
|
|
R8880:Dnajc2
|
UTSW |
5 |
21,973,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Dnajc2
|
UTSW |
5 |
21,968,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF040:Dnajc2
|
UTSW |
5 |
21,962,695 (GRCm39) |
makesense |
probably null |
|
|
X0027:Dnajc2
|
UTSW |
5 |
21,978,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTCACGCTTCAAGGC -3'
(R):5'- GTAGAATTTTGTCGGCTCTCCTTAC -3'
Sequencing Primer
(F):5'- TTCAAGGCGAGCGCTCATG -3'
(R):5'- GGTAACTCCAGCCTGTGTCAAATTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation