Incidental Mutation 'IGL02276:Dnajc12'
| ID |
287329 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajc12
|
| Ensembl Gene |
ENSMUSG00000036764 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C12 |
| Synonyms |
Jdp1, J domain protein 1, mJDP1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL02276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
63218222-63244619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63244037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 109
(R109Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043317]
[ENSMUST00000129625]
|
| AlphaFold |
Q9R022 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043317
AA Change: R191Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041298
Gene: ENSMUSG00000036764
AA Change: R191Q
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
13 |
71 |
1.3e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129625
AA Change: R109Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218466
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,386,697 (GRCm39) |
V1140A |
probably damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,833,475 (GRCm39) |
|
probably null |
Het |
| Cep135 |
A |
G |
5: 76,782,093 (GRCm39) |
N904S |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,187,295 (GRCm39) |
|
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,124,566 (GRCm39) |
N380K |
probably benign |
Het |
| Dusp11 |
A |
T |
6: 85,935,599 (GRCm39) |
D91E |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,254,703 (GRCm39) |
E266* |
probably null |
Het |
| Gm10337 |
A |
G |
15: 102,412,169 (GRCm39) |
V324A |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,517,295 (GRCm39) |
D46V |
possibly damaging |
Het |
| Hdac9 |
G |
A |
12: 34,481,925 (GRCm39) |
T181I |
probably damaging |
Het |
| Iigp1c |
A |
T |
18: 60,379,151 (GRCm39) |
I229F |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,544,721 (GRCm39) |
M686L |
probably benign |
Het |
| Lca5 |
C |
A |
9: 83,280,638 (GRCm39) |
L387F |
possibly damaging |
Het |
| Mtmr9 |
A |
T |
14: 63,767,725 (GRCm39) |
W295R |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,378 (GRCm39) |
D18E |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,487,259 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
G |
19: 38,513,201 (GRCm39) |
S167G |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,221,599 (GRCm39) |
D934E |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,695,306 (GRCm39) |
S2G |
possibly damaging |
Het |
| Ptpn6 |
A |
C |
6: 124,705,828 (GRCm39) |
D105E |
probably null |
Het |
| Rtp1 |
T |
C |
16: 23,250,063 (GRCm39) |
S143P |
probably benign |
Het |
| Rttn |
A |
C |
18: 89,066,578 (GRCm39) |
Q1208P |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,438,686 (GRCm39) |
V183D |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,210,712 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,280,734 (GRCm39) |
E271D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,226 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,313,877 (GRCm39) |
T279I |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,980 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
G |
A |
7: 43,261,428 (GRCm39) |
V32I |
possibly damaging |
Het |
|
| Other mutations in Dnajc12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01969:Dnajc12
|
APN |
10 |
63,231,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02669:Dnajc12
|
APN |
10 |
63,233,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1473:Dnajc12
|
UTSW |
10 |
63,233,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2321:Dnajc12
|
UTSW |
10 |
63,242,990 (GRCm39) |
splice site |
probably benign |
|
|
R4391:Dnajc12
|
UTSW |
10 |
63,242,838 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4703:Dnajc12
|
UTSW |
10 |
63,222,429 (GRCm39) |
splice site |
probably null |
|
|
R4726:Dnajc12
|
UTSW |
10 |
63,233,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Dnajc12
|
UTSW |
10 |
63,222,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6291:Dnajc12
|
UTSW |
10 |
63,233,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6908:Dnajc12
|
UTSW |
10 |
63,233,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7010:Dnajc12
|
UTSW |
10 |
63,233,059 (GRCm39) |
missense |
probably benign |
|
|
R7696:Dnajc12
|
UTSW |
10 |
63,242,911 (GRCm39) |
missense |
probably benign |
|
|
R7812:Dnajc12
|
UTSW |
10 |
63,242,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9619:Dnajc12
|
UTSW |
10 |
63,233,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dnajc12
|
UTSW |
10 |
63,233,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation