Incidental Mutation 'IGL03310:Dnaja2'
ID |
416512 |
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 # |
IGL03310
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
86264262-86281973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86275534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 140
(N140K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034138]
|
AlphaFold |
Q9QYJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034138
AA Change: N140K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034138 Gene: ENSMUSG00000031701 AA Change: N140K
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
C |
T |
9: 70,685,371 (GRCm39) |
R749C |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,481,879 (GRCm39) |
F872L |
probably damaging |
Het |
Cacna1e |
A |
C |
1: 154,317,997 (GRCm39) |
Y1462D |
probably damaging |
Het |
Ccna1 |
T |
C |
3: 54,958,041 (GRCm39) |
T7A |
probably benign |
Het |
Ces1d |
A |
G |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
Cmtm8 |
A |
T |
9: 114,619,794 (GRCm39) |
V117D |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,462,308 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
A |
T |
3: 145,019,744 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
T |
C |
1: 17,815,701 (GRCm39) |
|
probably benign |
Het |
Fktn |
A |
T |
4: 53,720,120 (GRCm39) |
K6* |
probably null |
Het |
Fryl |
C |
A |
5: 73,293,659 (GRCm39) |
|
probably benign |
Het |
Gm5117 |
T |
A |
8: 32,228,836 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2c |
A |
C |
6: 136,728,044 (GRCm39) |
S319R |
probably benign |
Het |
Helz2 |
G |
A |
2: 180,873,597 (GRCm39) |
A2299V |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,411 (GRCm39) |
S2061P |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,415,850 (GRCm39) |
N213S |
possibly damaging |
Het |
Mark3 |
A |
G |
12: 111,614,104 (GRCm39) |
T649A |
probably benign |
Het |
Nav3 |
C |
T |
10: 109,660,433 (GRCm39) |
|
probably null |
Het |
Npr1 |
C |
T |
3: 90,363,298 (GRCm39) |
E861K |
probably benign |
Het |
Or52a5 |
A |
C |
7: 103,426,634 (GRCm39) |
V306G |
probably benign |
Het |
Or5a3 |
T |
C |
19: 12,400,291 (GRCm39) |
V206A |
probably benign |
Het |
Pcdhb10 |
C |
T |
18: 37,545,374 (GRCm39) |
T150I |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,684,151 (GRCm39) |
C2009R |
possibly damaging |
Het |
Trgv7 |
A |
G |
13: 19,362,664 (GRCm39) |
|
probably benign |
Het |
Ttc16 |
T |
C |
2: 32,652,409 (GRCm39) |
|
probably benign |
Het |
Ttc39b |
T |
A |
4: 83,165,896 (GRCm39) |
Y230F |
probably benign |
Het |
Ubr1 |
A |
T |
2: 120,694,898 (GRCm39) |
I1678N |
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 |
IGL01946:Dnaja2
|
APN |
8 |
86,273,329 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |