Incidental Mutation 'R8231:Dnajc2'
| ID |
637137 |
| 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 |
067663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R8231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21962279-21990183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21966689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 426
(K426R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030771]
[ENSMUST00000030882]
[ENSMUST00000115193]
[ENSMUST00000115195]
|
| AlphaFold |
P54103 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030771
AA Change: K426R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014
AA Change: K426R
| 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 benign
Transcript: ENSMUST00000030882
|
| SMART Domains |
Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
68 |
215 |
6.1e-59 |
PFAM |
|
Pfam:Peptidase_M16_C
|
220 |
404 |
4.1e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115193
AA Change: K426R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014
AA Change: K426R
| 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 benign
Transcript: ENSMUST00000115195
AA Change: K352R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014
AA Change: K352R
| 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 |
probably benign
Transcript: ENSMUST00000141022
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
T |
17: 85,000,213 (GRCm39) |
R258C |
probably damaging |
Het |
| Acsf2 |
C |
G |
11: 94,452,188 (GRCm39) |
E451D |
probably benign |
Het |
| Adam34 |
A |
T |
8: 44,104,659 (GRCm39) |
S329T |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,925,599 (GRCm39) |
I535T |
probably damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,881,451 (GRCm39) |
F214S |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,027,868 (GRCm39) |
T13A |
possibly damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,643,551 (GRCm39) |
C94S |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,248,511 (GRCm39) |
Y1687H |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,747,939 (GRCm39) |
S271T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,012,362 (GRCm39) |
D382N |
probably benign |
Het |
| Dbh |
C |
T |
2: 27,060,555 (GRCm39) |
R244C |
probably benign |
Het |
| Dennd11 |
A |
T |
6: 40,395,546 (GRCm39) |
H187Q |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,752,950 (GRCm39) |
M428K |
possibly damaging |
Het |
| Duox2 |
A |
T |
2: 122,120,044 (GRCm39) |
M822K |
possibly damaging |
Het |
| Golga5 |
T |
C |
12: 102,438,558 (GRCm39) |
V91A |
probably benign |
Het |
| Gpatch2l |
T |
C |
12: 86,290,963 (GRCm39) |
S49P |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,328,465 (GRCm39) |
L246* |
probably null |
Het |
| Kntc1 |
A |
G |
5: 123,920,959 (GRCm39) |
T926A |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,081,978 (GRCm39) |
T54A |
probably benign |
Het |
| Megf6 |
C |
G |
4: 154,336,975 (GRCm39) |
C359W |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,307,572 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,125,491 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,169,846 (GRCm39) |
Q201L |
probably benign |
Het |
| Pibf1 |
T |
G |
14: 99,423,997 (GRCm39) |
H523Q |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,232,836 (GRCm39) |
S133P |
|
Het |
| Pnma8b |
T |
C |
7: 16,680,515 (GRCm39) |
C500R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 130,379,523 (GRCm39) |
N359S |
probably damaging |
Het |
| Rce1 |
A |
T |
19: 4,675,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Rmdn1 |
T |
C |
4: 19,586,853 (GRCm39) |
Y104H |
probably benign |
Het |
| Snx22 |
A |
T |
9: 65,975,480 (GRCm39) |
D96E |
probably benign |
Het |
| Sox5 |
G |
T |
6: 143,974,014 (GRCm39) |
Q245K |
probably damaging |
Het |
| Stat6 |
A |
G |
10: 127,482,842 (GRCm39) |
D21G |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,065,045 (GRCm39) |
Y180C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,933,026 (GRCm39) |
T2058A |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,911,352 (GRCm39) |
V277E |
probably benign |
Het |
| Tmem255b |
A |
G |
8: 13,504,225 (GRCm39) |
D139G |
probably damaging |
Het |
| Ttc27 |
C |
A |
17: 75,024,959 (GRCm39) |
T18K |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,237,348 (GRCm39) |
F337L |
probably damaging |
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 |
|
R6567:Dnajc2
|
UTSW |
5 |
21,971,676 (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 |
|
|
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'- AGTTATCTCCAGACCTCACTGC -3'
(R):5'- CCTATGCAGTGGGGAAAAGC -3'
Sequencing Primer
(F):5'- GCACACTGGATATTTTCACAAAAGC -3'
(R):5'- AGCTGGGTGAGAGCTGATGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation