Incidental Mutation 'IGL00922:Dnaja2'
ID |
28020 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnaja2
|
Ensembl Gene |
ENSMUSG00000031701 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member A2 |
Synonyms |
HIRIP4, PRO3015, mDj3, 2010206B19Rik, DNJ3, 1500017M13Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.697)
|
Stock # |
IGL00922
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
86264262-86281973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86281866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 4
(V4E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034138]
|
AlphaFold |
Q9QYJ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034138
AA Change: V4E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034138 Gene: ENSMUSG00000031701 AA Change: V4E
Domain | Start | End | E-Value | Type |
DnaJ
|
7 |
62 |
8.53e-31 |
SMART |
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
Pfam:DnaJ_C
|
116 |
338 |
8.5e-36 |
PFAM |
Pfam:DnaJ_CXXCXGXG
|
143 |
209 |
3.4e-18 |
PFAM |
low complexity region
|
393 |
403 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211630
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210016L21Rik |
T |
C |
5: 115,085,236 (GRCm39) |
|
probably null |
Het |
Atr |
T |
A |
9: 95,789,398 (GRCm39) |
M1518K |
probably damaging |
Het |
Baiap2l1 |
C |
T |
5: 144,255,777 (GRCm39) |
G59D |
probably damaging |
Het |
BC051019 |
C |
A |
7: 109,319,883 (GRCm39) |
C60F |
probably benign |
Het |
Brms1l |
A |
G |
12: 55,892,111 (GRCm39) |
Y135C |
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,824,163 (GRCm39) |
S535T |
probably benign |
Het |
Chkb |
C |
T |
15: 89,306,491 (GRCm39) |
|
probably null |
Het |
Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
Cobl |
T |
A |
11: 12,204,866 (GRCm39) |
D605V |
probably damaging |
Het |
Ddx54 |
T |
A |
5: 120,761,875 (GRCm39) |
|
probably null |
Het |
Dnah6 |
A |
T |
6: 73,010,509 (GRCm39) |
|
probably benign |
Het |
Dnajc22 |
T |
G |
15: 98,999,460 (GRCm39) |
L215R |
possibly damaging |
Het |
Drc7 |
G |
A |
8: 95,804,606 (GRCm39) |
V874I |
probably benign |
Het |
Foxa2 |
A |
C |
2: 147,886,738 (GRCm39) |
S26A |
possibly damaging |
Het |
Gal |
A |
T |
19: 3,461,575 (GRCm39) |
V70E |
probably benign |
Het |
Gjb4 |
T |
C |
4: 127,245,146 (GRCm39) |
Y265C |
probably benign |
Het |
Hc |
A |
G |
2: 34,881,680 (GRCm39) |
S1423P |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kash5 |
T |
C |
7: 44,834,730 (GRCm39) |
E532G |
possibly damaging |
Het |
Map3k6 |
C |
T |
4: 132,970,355 (GRCm39) |
|
probably benign |
Het |
Matn1 |
A |
T |
4: 130,680,285 (GRCm39) |
Q454L |
probably benign |
Het |
Mlxip |
A |
T |
5: 123,578,128 (GRCm39) |
N148I |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
Myo1h |
T |
C |
5: 114,498,546 (GRCm39) |
Y881H |
probably damaging |
Het |
Nphp4 |
C |
T |
4: 152,621,766 (GRCm39) |
|
probably benign |
Het |
Or6c3b |
T |
G |
10: 129,527,323 (GRCm39) |
I196L |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,735,954 (GRCm39) |
V2151D |
probably damaging |
Het |
Rnf141 |
T |
C |
7: 110,432,941 (GRCm39) |
|
probably benign |
Het |
Rpe65 |
A |
C |
3: 159,320,179 (GRCm39) |
D277A |
probably damaging |
Het |
Sec14l1 |
C |
T |
11: 117,044,055 (GRCm39) |
T521M |
possibly damaging |
Het |
Slc25a30 |
A |
T |
14: 76,007,038 (GRCm39) |
Y153N |
probably damaging |
Het |
Slc6a12 |
C |
T |
6: 121,337,414 (GRCm39) |
A366V |
probably damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,038,963 (GRCm39) |
T1367S |
probably damaging |
Het |
Vmn2r71 |
T |
G |
7: 85,267,901 (GRCm39) |
S118R |
probably benign |
Het |
|
Other mutations in Dnaja2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01479:Dnaja2
|
APN |
8 |
86,280,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01722:Dnaja2
|
APN |
8 |
86,279,908 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01946:Dnaja2
|
APN |
8 |
86,273,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03310:Dnaja2
|
APN |
8 |
86,275,534 (GRCm39) |
missense |
probably benign |
0.00 |
R0689:Dnaja2
|
UTSW |
8 |
86,273,347 (GRCm39) |
splice site |
probably benign |
|
R1350:Dnaja2
|
UTSW |
8 |
86,266,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R2332:Dnaja2
|
UTSW |
8 |
86,266,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R3105:Dnaja2
|
UTSW |
8 |
86,281,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R3693:Dnaja2
|
UTSW |
8 |
86,273,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R3787:Dnaja2
|
UTSW |
8 |
86,267,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4803:Dnaja2
|
UTSW |
8 |
86,280,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R5109:Dnaja2
|
UTSW |
8 |
86,279,887 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5428:Dnaja2
|
UTSW |
8 |
86,266,804 (GRCm39) |
missense |
probably benign |
|
R5576:Dnaja2
|
UTSW |
8 |
86,266,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7055:Dnaja2
|
UTSW |
8 |
86,275,303 (GRCm39) |
missense |
probably benign |
0.00 |
R7385:Dnaja2
|
UTSW |
8 |
86,265,982 (GRCm39) |
missense |
probably benign |
|
R7662:Dnaja2
|
UTSW |
8 |
86,265,905 (GRCm39) |
missense |
probably benign |
0.17 |
R7693:Dnaja2
|
UTSW |
8 |
86,266,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R8049:Dnaja2
|
UTSW |
8 |
86,265,876 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9653:Dnaja2
|
UTSW |
8 |
86,265,982 (GRCm39) |
missense |
probably benign |
|
Z1177:Dnaja2
|
UTSW |
8 |
86,266,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-04-17 |