Incidental Mutation 'R3011:Dnajc5b'
ID |
257500 |
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 |
040533-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3011 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
19562759-19665026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19600966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 21
(Y21F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029132]
[ENSMUST00000118735]
[ENSMUST00000118968]
[ENSMUST00000165693]
|
AlphaFold |
Q9CQ94 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029132
AA Change: Y21F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029132 Gene: ENSMUSG00000027606 AA Change: Y21F
Domain | Start | End | E-Value | Type |
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118735
AA Change: Y21F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113414 Gene: ENSMUSG00000027606 AA Change: Y21F
Domain | Start | End | E-Value | Type |
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118968
AA Change: Y21F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112849 Gene: ENSMUSG00000027606 AA Change: Y21F
Domain | Start | End | E-Value | Type |
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165693
AA Change: Y21F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127515 Gene: ENSMUSG00000027606 AA Change: Y21F
Domain | Start | End | E-Value | Type |
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.7963 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably 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 |
|
R3859:Dnajc5b
|
UTSW |
3 |
19,628,966 (GRCm39) |
nonsense |
probably null |
|
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'- TGGAAAGCACTTTTAGCTCTTGG -3'
(R):5'- AATCAGATCACCTGGTCTTGG -3'
Sequencing Primer
(F):5'- CAAATGCTGGTCTTTTTAAACAGGTG -3'
(R):5'- ATCACCTGGTCTTGGTAAGAAGC -3'
|
Posted On |
2015-01-11 |