Incidental Mutation 'R0829:Dnajb6'
| ID |
78421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajb6
|
| Ensembl Gene |
ENSMUSG00000029131 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B6 |
| Synonyms |
Mrj, mDj4 |
| MMRRC Submission |
039009-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
29940896-29991476 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 29990020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008733]
[ENSMUST00000196528]
[ENSMUST00000198694]
|
| AlphaFold |
O54946 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008733
|
| SMART Domains |
Protein: ENSMUSP00000008733
Gene: ENSMUSG00000029131
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
4.64e-32 |
SMART |
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140376
|
| SMART Domains |
Protein: ENSMUSP00000117159
Gene: ENSMUSG00000029131
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196528
|
| SMART Domains |
Protein: ENSMUSP00000142878
Gene: ENSMUSG00000029131
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
3e-34 |
SMART |
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198694
|
| SMART Domains |
Protein: ENSMUSP00000142783
Gene: ENSMUSG00000029131
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
1.4e-23 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
95% (37/39) |
| 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 protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants died at mid-gestation due to a failure of chorioallantoic fusion at embryonic day 8.5, and thus preventing the formation of a mature placenta. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
A |
16: 38,266,150 (GRCm39) |
A331S |
probably benign |
Het |
| Atp4b |
T |
G |
8: 13,440,098 (GRCm39) |
T83P |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,806,253 (GRCm39) |
E7G |
probably damaging |
Het |
| Cercam |
G |
T |
2: 29,761,079 (GRCm39) |
R126L |
probably damaging |
Het |
| Cpb1 |
C |
T |
3: 20,306,107 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,238 (GRCm39) |
M2311V |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,896,002 (GRCm39) |
V2458L |
probably benign |
Het |
| Dst |
A |
G |
1: 34,202,301 (GRCm39) |
T210A |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,030,847 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,188,460 (GRCm39) |
D429N |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,499,111 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
A |
G |
16: 33,764,571 (GRCm39) |
I359V |
probably benign |
Het |
| Lemd3 |
T |
C |
10: 120,814,988 (GRCm39) |
T82A |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,376,254 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
T |
6: 97,980,869 (GRCm39) |
I246F |
possibly damaging |
Het |
| Msgn1 |
C |
T |
12: 11,258,525 (GRCm39) |
R142Q |
probably damaging |
Het |
| Myh8 |
C |
A |
11: 67,174,326 (GRCm39) |
|
probably benign |
Het |
| Nacad |
C |
A |
11: 6,551,158 (GRCm39) |
V678L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,725,596 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or1s2 |
T |
A |
19: 13,758,556 (GRCm39) |
D191E |
probably damaging |
Het |
| Or4c100 |
A |
T |
2: 88,356,572 (GRCm39) |
Y215F |
probably damaging |
Het |
| Or4l15 |
C |
A |
14: 50,198,503 (GRCm39) |
V9L |
probably benign |
Het |
| Or6d13 |
A |
G |
6: 116,518,226 (GRCm39) |
T271A |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,338,598 (GRCm39) |
V1068E |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,262,273 (GRCm39) |
Y99C |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 111,028,450 (GRCm39) |
T42I |
possibly damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rbm25 |
T |
C |
12: 83,707,150 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,570 (GRCm39) |
D998G |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,119,684 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,687,899 (GRCm39) |
I507M |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,061,790 (GRCm39) |
|
probably null |
Het |
| Stimate |
C |
T |
14: 30,584,842 (GRCm39) |
R56C |
probably damaging |
Het |
| Tert |
T |
C |
13: 73,792,504 (GRCm39) |
C924R |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,371,000 (GRCm39) |
S221P |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,469 (GRCm39) |
A35T |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
|
| Other mutations in Dnajb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02282:Dnajb6
|
APN |
5 |
29,957,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02706:Dnajb6
|
APN |
5 |
29,957,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Dnajb6
|
UTSW |
5 |
29,990,077 (GRCm39) |
intron |
probably benign |
|
|
R0925:Dnajb6
|
UTSW |
5 |
29,957,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1776:Dnajb6
|
UTSW |
5 |
29,990,091 (GRCm39) |
intron |
probably benign |
|
|
R2357:Dnajb6
|
UTSW |
5 |
29,958,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3979:Dnajb6
|
UTSW |
5 |
29,956,006 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4151:Dnajb6
|
UTSW |
5 |
29,961,234 (GRCm39) |
missense |
probably benign |
|
|
R6243:Dnajb6
|
UTSW |
5 |
29,986,131 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6671:Dnajb6
|
UTSW |
5 |
29,953,418 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7206:Dnajb6
|
UTSW |
5 |
29,986,335 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7440:Dnajb6
|
UTSW |
5 |
29,962,857 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7536:Dnajb6
|
UTSW |
5 |
29,962,804 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8334:Dnajb6
|
UTSW |
5 |
29,986,238 (GRCm39) |
missense |
unknown |
|
|
R9485:Dnajb6
|
UTSW |
5 |
29,986,517 (GRCm39) |
nonsense |
probably null |
|
|
R9665:Dnajb6
|
UTSW |
5 |
29,971,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dnajb6
|
UTSW |
5 |
29,957,443 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCCTGTGTGGTGGTGACATTC -3'
(R):5'- AAGTGACCCTGGGCGACATTTAAAG -3'
Sequencing Primer
(F):5'- TGACATTCTGGGAGCAATATGG -3'
(R):5'- CATTTAAAGGATGCCGCTGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation