Incidental Mutation 'IGL02977:Dnaja4'
| ID |
406437 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnaja4
|
| Ensembl Gene |
ENSMUSG00000032285 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member A4 |
| Synonyms |
1110021L12Rik, Dj4, Hsj4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
54606157-54623599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54621794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 343
(L343P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051822]
[ENSMUST00000070070]
[ENSMUST00000118771]
[ENSMUST00000120452]
[ENSMUST00000121204]
[ENSMUST00000130368]
|
| AlphaFold |
Q9JMC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051822
|
| SMART Domains |
Protein: ENSMUSP00000056359
Gene: ENSMUSG00000061559
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
48 |
1.27e-1 |
SMART |
|
WD40
|
53 |
92 |
7.62e-5 |
SMART |
|
WD40
|
95 |
134 |
3.99e-1 |
SMART |
|
WD40
|
137 |
176 |
7.73e-6 |
SMART |
|
WD40
|
179 |
218 |
3.21e-12 |
SMART |
|
WD40
|
221 |
260 |
8.81e-10 |
SMART |
|
WD40
|
263 |
302 |
1.49e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070070
AA Change: L343P
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070413
Gene: ENSMUSG00000032285
AA Change: L343P
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
5 |
60 |
1.41e-31 |
SMART |
|
low complexity region
|
75 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
|
Pfam:DnaJ_CXXCXGXG
|
135 |
201 |
2.1e-15 |
PFAM |
|
Pfam:CTDII
|
258 |
340 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118771
|
| SMART Domains |
Protein: ENSMUSP00000112811
Gene: ENSMUSG00000061559
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
48 |
1.27e-1 |
SMART |
|
WD40
|
53 |
92 |
7.62e-5 |
SMART |
|
WD40
|
95 |
134 |
3.99e-1 |
SMART |
|
WD40
|
137 |
176 |
7.73e-6 |
SMART |
|
WD40
|
179 |
218 |
3.21e-12 |
SMART |
|
WD40
|
221 |
260 |
8.81e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120452
AA Change: L343P
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112520
Gene: ENSMUSG00000032285
AA Change: L343P
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
5 |
60 |
1.41e-31 |
SMART |
|
low complexity region
|
75 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
|
Pfam:DnaJ_C
|
108 |
330 |
9.7e-35 |
PFAM |
|
Pfam:DnaJ_CXXCXGXG
|
135 |
201 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121204
|
| SMART Domains |
Protein: ENSMUSP00000113560
Gene: ENSMUSG00000061559
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
48 |
1.27e-1 |
SMART |
|
WD40
|
53 |
92 |
7.62e-5 |
SMART |
|
WD40
|
95 |
134 |
3.99e-1 |
SMART |
|
WD40
|
137 |
176 |
7.73e-6 |
SMART |
|
WD40
|
179 |
218 |
3.21e-12 |
SMART |
|
WD40
|
221 |
260 |
8.81e-10 |
SMART |
|
WD40
|
263 |
302 |
1.49e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130368
|
| SMART Domains |
Protein: ENSMUSP00000123077
Gene: ENSMUSG00000061559
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
5 |
36 |
5.3e1 |
SMART |
|
WD40
|
39 |
78 |
7.73e-6 |
SMART |
|
WD40
|
81 |
120 |
3.21e-12 |
SMART |
|
WD40
|
123 |
162 |
8.81e-10 |
SMART |
|
WD40
|
165 |
204 |
1.49e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144365
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
C |
T |
8: 125,587,930 (GRCm39) |
V57M |
probably benign |
Het |
| 4933440M02Rik |
T |
A |
7: 124,930,874 (GRCm39) |
|
noncoding transcript |
Het |
| Bmp5 |
A |
G |
9: 75,801,081 (GRCm39) |
T404A |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,985,976 (GRCm39) |
V1660A |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,387,069 (GRCm39) |
Y2121* |
probably null |
Het |
| Daam1 |
G |
A |
12: 71,990,946 (GRCm39) |
A187T |
unknown |
Het |
| Dym |
T |
C |
18: 75,196,246 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
T |
1: 164,021,590 (GRCm39) |
D1355V |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,306,738 (GRCm39) |
I329N |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,768 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,319 (GRCm39) |
N569S |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,309,412 (GRCm39) |
S551P |
possibly damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,561 (GRCm39) |
|
probably benign |
Het |
| Hspe1 |
T |
C |
1: 55,130,232 (GRCm39) |
Y88H |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,445,016 (GRCm39) |
M312K |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,620,747 (GRCm39) |
D3577A |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,995,322 (GRCm39) |
G181V |
probably damaging |
Het |
| Oprl1 |
G |
T |
2: 181,360,304 (GRCm39) |
C115F |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,956 (GRCm39) |
S259P |
possibly damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,915 (GRCm39) |
I122V |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,524 (GRCm39) |
D112G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,599 (GRCm39) |
I395N |
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,674,120 (GRCm39) |
S823P |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,103,484 (GRCm39) |
L538P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,235 (GRCm39) |
Y216N |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,517,073 (GRCm39) |
Q882L |
probably benign |
Het |
| Trav13-2 |
C |
T |
14: 53,872,764 (GRCm39) |
T80I |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,773,662 (GRCm39) |
P388S |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,748 (GRCm39) |
R439G |
possibly damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,510,149 (GRCm39) |
A75S |
probably damaging |
Het |
|
| Other mutations in Dnaja4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4305001:Dnaja4
|
UTSW |
9 |
54,617,918 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2139:Dnaja4
|
UTSW |
9 |
54,616,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4837:Dnaja4
|
UTSW |
9 |
54,617,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5087:Dnaja4
|
UTSW |
9 |
54,607,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5862:Dnaja4
|
UTSW |
9 |
54,606,625 (GRCm39) |
unclassified |
probably benign |
|
|
R6722:Dnaja4
|
UTSW |
9 |
54,607,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6985:Dnaja4
|
UTSW |
9 |
54,615,679 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7165:Dnaja4
|
UTSW |
9 |
54,616,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Dnaja4
|
UTSW |
9 |
54,621,569 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7762:Dnaja4
|
UTSW |
9 |
54,616,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8879:Dnaja4
|
UTSW |
9 |
54,621,988 (GRCm39) |
unclassified |
probably benign |
|
|
R9069:Dnaja4
|
UTSW |
9 |
54,621,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9609:Dnaja4
|
UTSW |
9 |
54,616,644 (GRCm39) |
missense |
probably null |
1.00 |
|
X0057:Dnaja4
|
UTSW |
9 |
54,607,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation