Incidental Mutation 'R3859:Dnajc5b'
| ID |
276279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc5b
|
| Ensembl Gene |
ENSMUSG00000027606 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C5 beta |
| Synonyms |
1700008A05Rik |
| MMRRC Submission |
040787-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3859 (G1)
|
| Quality Score |
128 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
19562759-19665026 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 19628966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 87
(G87*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029132]
[ENSMUST00000118735]
[ENSMUST00000118968]
[ENSMUST00000165693]
|
| AlphaFold |
Q9CQ94 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029132
AA Change: G87*
|
| SMART Domains |
Protein: ENSMUSP00000029132
Gene: ENSMUSG00000027606
AA Change: G87*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118735
AA Change: G87*
|
| SMART Domains |
Protein: ENSMUSP00000113414
Gene: ENSMUSG00000027606
AA Change: G87*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118968
AA Change: G87*
|
| SMART Domains |
Protein: ENSMUSP00000112849
Gene: ENSMUSG00000027606
AA Change: G87*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165693
AA Change: G87*
|
| SMART Domains |
Protein: ENSMUSP00000127515
Gene: ENSMUSG00000027606
AA Change: G87*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
95% (36/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,090,218 (GRCm39) |
N305S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,281,462 (GRCm39) |
D35Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,857 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,908,524 (GRCm39) |
Q2493* |
probably null |
Het |
| Fbl |
G |
A |
7: 27,873,935 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,012,930 (GRCm39) |
G88S |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gnao1 |
C |
T |
8: 94,538,273 (GRCm39) |
|
probably benign |
Het |
| Hspa14 |
A |
T |
2: 3,495,616 (GRCm39) |
C304* |
probably null |
Het |
| Itih4 |
T |
C |
14: 30,614,286 (GRCm39) |
L412P |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,290 (GRCm39) |
L995P |
probably damaging |
Het |
| Krt12 |
G |
A |
11: 99,309,319 (GRCm39) |
L314F |
possibly damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,405 (GRCm39) |
M1T |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,443 (GRCm39) |
V215I |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,313,096 (GRCm39) |
L349Q |
probably benign |
Het |
| Pcdha6 |
C |
T |
18: 37,102,984 (GRCm39) |
P6S |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,630 (GRCm39) |
E487G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,797,066 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
C |
T |
13: 27,742,147 (GRCm39) |
G238E |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Purg |
T |
C |
8: 33,876,587 (GRCm39) |
F75S |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,990,286 (GRCm39) |
T719A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,646 (GRCm39) |
P391L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,976,558 (GRCm39) |
L1241P |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,193,245 (GRCm39) |
F402L |
possibly damaging |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,074,204 (GRCm39) |
F245V |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,487 (GRCm39) |
E123G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,790,923 (GRCm39) |
I373M |
possibly damaging |
Het |
|
| Other mutations in Dnajc5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1630:Dnajc5b
|
UTSW |
3 |
19,628,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Dnajc5b
|
UTSW |
3 |
19,633,265 (GRCm39) |
nonsense |
probably null |
|
|
R3011:Dnajc5b
|
UTSW |
3 |
19,600,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Dnajc5b
|
UTSW |
3 |
19,633,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5281:Dnajc5b
|
UTSW |
3 |
19,664,724 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5337:Dnajc5b
|
UTSW |
3 |
19,628,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Dnajc5b
|
UTSW |
3 |
19,601,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Dnajc5b
|
UTSW |
3 |
19,601,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7770:Dnajc5b
|
UTSW |
3 |
19,633,181 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7782:Dnajc5b
|
UTSW |
3 |
19,629,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8369:Dnajc5b
|
UTSW |
3 |
19,664,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Dnajc5b
|
UTSW |
3 |
19,600,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Dnajc5b
|
UTSW |
3 |
19,633,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9527:Dnajc5b
|
UTSW |
3 |
19,633,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGAGCTAATACTTTTCTCCTTGC -3'
(R):5'- CAGCTTTCAGAGGAAGCGATG -3'
Sequencing Primer
(F):5'- CATCTGCTGCTGAGAAGTT -3'
(R):5'- CGATGTCGCATTTTATTTACAAGAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation