Incidental Mutation 'IGL00924:Dnajc7'
| ID |
28526 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajc7
|
| Ensembl Gene |
ENSMUSG00000014195 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C7 |
| Synonyms |
2010003F24Rik, mDj11, Ttc2, mTpr2, 2010004G07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100473644-100511014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100475111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 437
(I437T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014339]
[ENSMUST00000103120]
|
| AlphaFold |
Q9QYI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014339
AA Change: I437T
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195
AA Change: I437T
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
28 |
61 |
3.39e-7 |
SMART |
|
TPR
|
62 |
95 |
1.11e-2 |
SMART |
|
TPR
|
96 |
129 |
4.09e-1 |
SMART |
|
Blast:TPR
|
142 |
175 |
4e-13 |
BLAST |
|
Blast:TPR
|
176 |
209 |
1e-13 |
BLAST |
|
TPR
|
210 |
243 |
2.29e-4 |
SMART |
|
TPR
|
256 |
289 |
1.11e-2 |
SMART |
|
TPR
|
294 |
327 |
2.87e-5 |
SMART |
|
TPR
|
328 |
361 |
1.83e-3 |
SMART |
|
DnaJ
|
380 |
443 |
2.93e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103120
|
| SMART Domains |
Protein: ENSMUSP00000099409
Gene: ENSMUSG00000006782
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
52 |
175 |
8.9e-10 |
PFAM |
|
Pfam:CNPase
|
185 |
419 |
7.1e-118 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150414
|
| 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 the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit hepatic steatosis and increased serum cholesterol. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(178) : Targeted, other(2) Gene trapped(176) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,255,021 (GRCm39) |
V112A |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,074,339 (GRCm39) |
I305F |
probably damaging |
Het |
| AW209491 |
A |
G |
13: 14,811,660 (GRCm39) |
N171S |
probably damaging |
Het |
| Bank1 |
G |
T |
3: 135,953,395 (GRCm39) |
A120E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,234,087 (GRCm39) |
E206D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,613,612 (GRCm39) |
K428E |
possibly damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,485,447 (GRCm39) |
I191V |
probably benign |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cpm |
T |
G |
10: 117,511,971 (GRCm39) |
I305S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,833 (GRCm39) |
T1065A |
unknown |
Het |
| Dlc1 |
A |
T |
8: 37,405,368 (GRCm39) |
S140R |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,653,188 (GRCm39) |
T674A |
probably benign |
Het |
| Entpd5 |
A |
T |
12: 84,433,828 (GRCm39) |
V147E |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,783,510 (GRCm39) |
C30R |
probably benign |
Het |
| Habp4 |
A |
G |
13: 64,321,885 (GRCm39) |
D174G |
probably damaging |
Het |
| Has3 |
T |
C |
8: 107,605,231 (GRCm39) |
F479S |
probably benign |
Het |
| Helb |
T |
A |
10: 119,946,889 (GRCm39) |
K141N |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,221,956 (GRCm39) |
R465H |
probably benign |
Het |
| Lrrc57 |
A |
T |
2: 120,436,532 (GRCm39) |
M86K |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,132,398 (GRCm39) |
V258A |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,882,625 (GRCm39) |
M476L |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,334,393 (GRCm39) |
F216Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Ngdn |
T |
C |
14: 55,260,626 (GRCm39) |
I278T |
probably damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,500 (GRCm39) |
D173G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,388 (GRCm39) |
R23C |
probably benign |
Het |
| P4hb |
G |
T |
11: 120,454,644 (GRCm39) |
Q245K |
probably benign |
Het |
| Pcx |
G |
A |
19: 4,670,965 (GRCm39) |
V1089I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,624 (GRCm39) |
M498K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,601 (GRCm39) |
L1025* |
probably null |
Het |
| Sdhaf2 |
G |
A |
19: 10,494,380 (GRCm39) |
P110S |
probably damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,020,544 (GRCm39) |
K538E |
probably benign |
Het |
| Spag11b |
T |
A |
8: 19,192,656 (GRCm39) |
V78D |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,294 (GRCm39) |
C367R |
probably damaging |
Het |
| Unc5a |
G |
A |
13: 55,152,327 (GRCm39) |
E741K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,891 (GRCm39) |
L668H |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,964,643 (GRCm39) |
T367I |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,942,231 (GRCm39) |
P603S |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,661,723 (GRCm39) |
R577W |
probably damaging |
Het |
|
| Other mutations in Dnajc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Dnajc7
|
APN |
11 |
100,490,017 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
3-1:Dnajc7
|
UTSW |
11 |
100,480,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Dnajc7
|
UTSW |
11 |
100,487,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB020:Dnajc7
|
UTSW |
11 |
100,487,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1282:Dnajc7
|
UTSW |
11 |
100,475,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Dnajc7
|
UTSW |
11 |
100,492,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Dnajc7
|
UTSW |
11 |
100,490,139 (GRCm39) |
splice site |
probably benign |
|
|
R1985:Dnajc7
|
UTSW |
11 |
100,481,718 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4020:Dnajc7
|
UTSW |
11 |
100,482,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4065:Dnajc7
|
UTSW |
11 |
100,492,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4067:Dnajc7
|
UTSW |
11 |
100,492,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4611:Dnajc7
|
UTSW |
11 |
100,481,803 (GRCm39) |
nonsense |
probably null |
|
|
R4687:Dnajc7
|
UTSW |
11 |
100,490,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Dnajc7
|
UTSW |
11 |
100,510,402 (GRCm39) |
missense |
probably benign |
|
|
R7469:Dnajc7
|
UTSW |
11 |
100,482,377 (GRCm39) |
missense |
probably benign |
|
|
R7740:Dnajc7
|
UTSW |
11 |
100,482,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7842:Dnajc7
|
UTSW |
11 |
100,489,544 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7886:Dnajc7
|
UTSW |
11 |
100,492,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7933:Dnajc7
|
UTSW |
11 |
100,487,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-04-17 |
Incidental Mutation