Incidental Mutation 'R3693:Dnaja2'
| ID |
268861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaja2
|
| Ensembl Gene |
ENSMUSG00000031701 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member A2 |
| Synonyms |
HIRIP4, PRO3015, mDj3, 2010206B19Rik, DNJ3, 1500017M13Rik |
| MMRRC Submission |
040688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.760)
|
| Stock # |
R3693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86264262-86281973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86273249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 223
(K223E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034138]
|
| AlphaFold |
Q9QYJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034138
AA Change: K223E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: K223E
| 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
|
| Meta Mutation Damage Score |
0.5058 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,655,443 (GRCm39) |
D122G |
probably damaging |
Het |
| Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp11b2 |
C |
T |
15: 74,727,857 (GRCm39) |
R75Q |
probably benign |
Het |
| Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,152,904 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,769,209 (GRCm39) |
I40T |
probably benign |
Het |
| Pip5k1a |
A |
T |
3: 94,985,498 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
| Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCCAACAGATCTATTTCTCAC -3'
(R):5'- GACTGTCCAAGGAGCTAAGG -3'
Sequencing Primer
(F):5'- TTCTCACAAGTAAGATCAATTCTGAG -3'
(R):5'- CTGTCCAAGGAGCTAAGGAAATGTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation