Incidental Mutation 'R0925:Dnajb6'
| ID |
83138 |
| 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 |
039072-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
29940896-29991476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29957398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 60
(K60I)
|
| 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: K60I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000008733
Gene: ENSMUSG00000029131
AA Change: K60I
| 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 |
possibly damaging
Transcript: ENSMUST00000012734
AA Change: K60I
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000012734
Gene: ENSMUSG00000029131
AA Change: K60I
| 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: K60I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110488
Gene: ENSMUSG00000029131
AA Change: K60I
| 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 |
possibly damaging
Transcript: ENSMUST00000196528
AA Change: K60I
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142878
Gene: ENSMUSG00000029131
AA Change: K60I
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,340 (GRCm39) |
I295V |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,302,441 (GRCm39) |
Q101R |
probably benign |
Het |
| C2cd4c |
T |
C |
10: 79,448,584 (GRCm39) |
N188D |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,416,875 (GRCm39) |
|
probably null |
Het |
| Cdh11 |
T |
A |
8: 103,361,356 (GRCm39) |
I661L |
probably damaging |
Het |
| Cimip1 |
T |
A |
2: 173,367,867 (GRCm39) |
S47T |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,760,634 (GRCm39) |
I167T |
probably benign |
Het |
| Dennd3 |
T |
G |
15: 73,405,284 (GRCm39) |
F346V |
probably damaging |
Het |
| Dis3l |
A |
T |
9: 64,248,412 (GRCm39) |
M1K |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,514,657 (GRCm39) |
H1421L |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,545,921 (GRCm39) |
C274S |
probably damaging |
Het |
| Eme1 |
T |
C |
11: 94,541,558 (GRCm39) |
E88G |
probably damaging |
Het |
| Fam227a |
A |
T |
15: 79,505,006 (GRCm39) |
M475K |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,561,394 (GRCm39) |
I1038V |
probably benign |
Het |
| Gabpb1 |
T |
A |
2: 126,494,185 (GRCm39) |
N147Y |
probably damaging |
Het |
| Gmnc |
A |
G |
16: 26,779,173 (GRCm39) |
L278P |
probably benign |
Het |
| Gpr153 |
A |
G |
4: 152,366,331 (GRCm39) |
T299A |
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,858,353 (GRCm39) |
V49A |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,397,049 (GRCm39) |
K62N |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,297 (GRCm39) |
T47M |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,500 (GRCm39) |
T55A |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,711,410 (GRCm39) |
F705L |
probably benign |
Het |
| Klk1 |
T |
A |
7: 43,878,240 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,797,107 (GRCm39) |
I123F |
probably damaging |
Het |
| Nup58 |
T |
C |
14: 60,457,590 (GRCm39) |
T538A |
probably damaging |
Het |
| Or52j3 |
T |
A |
7: 102,836,030 (GRCm39) |
L74* |
probably null |
Het |
| Or5p81 |
C |
T |
7: 108,267,400 (GRCm39) |
T259I |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,399,356 (GRCm39) |
R790H |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,389,960 (GRCm39) |
K74R |
probably benign |
Het |
| Prmt8 |
T |
C |
6: 127,674,776 (GRCm39) |
K284R |
probably benign |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,553 (GRCm39) |
Y138N |
probably damaging |
Het |
| Scara5 |
AC |
ACC |
14: 66,000,167 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,913,548 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,001,992 (GRCm39) |
V41I |
possibly damaging |
Het |
| Tdrd7 |
C |
A |
4: 46,025,758 (GRCm39) |
N859K |
probably damaging |
Het |
| Vps13d |
T |
G |
4: 144,883,121 (GRCm39) |
D824A |
probably damaging |
Het |
| Wdfy2 |
A |
T |
14: 63,167,675 (GRCm39) |
|
probably null |
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 |
|
|
R0829:Dnajb6
|
UTSW |
5 |
29,990,020 (GRCm39) |
intron |
probably benign |
|
|
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'- TTCACGCATACCAGCGTAGCAC -3'
(R):5'- TCAAGGCAAATCCCTGTTGACTATCAG -3'
Sequencing Primer
(F):5'- CAAGCAGATCCTGAGTCTGAGC -3'
(R):5'- cgggaggcagagagagg -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation