Incidental Mutation 'IGL01479:Dnaja2'
| ID |
88537 |
| 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 # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
86264262-86281973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86280580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 35
(Y35C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034138]
|
| AlphaFold |
Q9QYJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034138
AA Change: Y35C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: Y35C
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
| Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
| Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
| Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
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 |
|
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 |
2013-11-18 |
Incidental Mutation