Incidental Mutation 'IGL01946:Dnaja2'
ID |
180956 |
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? |
Probably essential
(E-score: 0.760)
|
Stock # |
IGL01946
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
86264262-86281973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86273329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 196
(I196T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034138]
|
AlphaFold |
Q9QYJ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034138
AA Change: I196T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034138 Gene: ENSMUSG00000031701 AA Change: I196T
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
Other mutations in Dnaja2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00922:Dnaja2
|
APN |
8 |
86,281,866 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
2014-05-07 |