Incidental Mutation 'IGL02282:Dnajb6'
| ID |
289877 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajb6
|
| Ensembl Gene |
ENSMUSG00000029131 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B6 |
| Synonyms |
Mrj, mDj4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
29940896-29991476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29957416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 66
(D66G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008733]
[ENSMUST00000012734]
[ENSMUST00000114839]
[ENSMUST00000196528]
[ENSMUST00000196785]
[ENSMUST00000198694]
|
| AlphaFold |
O54946 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008733
AA Change: D66G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008733
Gene: ENSMUSG00000029131
AA Change: D66G
| 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 damaging
Transcript: ENSMUST00000012734
AA Change: D66G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012734
Gene: ENSMUSG00000029131
AA Change: D66G
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
4.64e-32 |
SMART |
|
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114839
AA Change: D66G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110488
Gene: ENSMUSG00000029131
AA Change: D66G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151976
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196528
AA Change: D66G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142878
Gene: ENSMUSG00000029131
AA Change: D66G
| 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: ENSMUST00000196785
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,983,351 (GRCm39) |
D1545G |
probably damaging |
Het |
| Baiap3 |
A |
C |
17: 25,468,351 (GRCm39) |
D234E |
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,175,054 (GRCm39) |
P1730S |
probably benign |
Het |
| Cand1 |
T |
A |
10: 119,046,614 (GRCm39) |
T959S |
probably benign |
Het |
| Ctdspl2 |
A |
G |
2: 121,807,959 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,008,472 (GRCm39) |
M205L |
probably benign |
Het |
| Dlx5 |
G |
A |
6: 6,881,762 (GRCm39) |
A42V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,682,669 (GRCm39) |
I267T |
possibly damaging |
Het |
| Fgf8 |
T |
C |
19: 45,725,529 (GRCm39) |
H201R |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,689 (GRCm39) |
K460E |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,826 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,878,697 (GRCm39) |
G17D |
probably damaging |
Het |
| Il4 |
G |
A |
11: 53,509,001 (GRCm39) |
T59M |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,125,924 (GRCm39) |
|
probably null |
Het |
| Mill1 |
G |
T |
7: 17,997,129 (GRCm39) |
|
probably null |
Het |
| Npbwr1 |
A |
T |
1: 5,987,184 (GRCm39) |
M110K |
possibly damaging |
Het |
| Opalin |
A |
T |
19: 41,054,943 (GRCm39) |
S84T |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,632,622 (GRCm39) |
D276E |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,352,914 (GRCm39) |
Y235C |
probably benign |
Het |
| Or8b35 |
A |
T |
9: 37,904,318 (GRCm39) |
I177F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,881 (GRCm39) |
L737P |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,795,743 (GRCm39) |
S626L |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,919,322 (GRCm39) |
D435G |
probably damaging |
Het |
| Prss37 |
A |
G |
6: 40,492,317 (GRCm39) |
V178A |
possibly damaging |
Het |
| Ptpn7 |
A |
G |
1: 135,062,572 (GRCm39) |
I104V |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,229,800 (GRCm39) |
Y700H |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,534 (GRCm39) |
T555S |
probably damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,020,614 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,539,026 (GRCm39) |
R41H |
probably damaging |
Het |
| Rps3 |
A |
G |
7: 99,128,479 (GRCm39) |
|
probably null |
Het |
| Ruvbl2 |
G |
A |
7: 45,074,589 (GRCm39) |
T183I |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,589,284 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,111,114 (GRCm39) |
Y53D |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,453 (GRCm39) |
K247I |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,834 (GRCm39) |
I236F |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,022,081 (GRCm39) |
I1168T |
probably damaging |
Het |
| Ttc9b |
A |
T |
7: 27,355,336 (GRCm39) |
D202V |
probably damaging |
Het |
| Vmn2r26 |
T |
G |
6: 124,038,584 (GRCm39) |
C720G |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,209,761 (GRCm39) |
S584P |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,601 (GRCm39) |
D1208V |
probably damaging |
Het |
| Zfp988 |
T |
A |
4: 147,416,125 (GRCm39) |
C186* |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,013,205 (GRCm39) |
N179S |
possibly damaging |
Het |
|
| Other mutations in Dnajb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02706:Dnajb6
|
APN |
5 |
29,957,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Dnajb6
|
UTSW |
5 |
29,990,077 (GRCm39) |
intron |
probably benign |
|
|
R0829:Dnajb6
|
UTSW |
5 |
29,990,020 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation