Incidental Mutation 'IGL00910:Dnajc7'
| ID |
28501 |
| 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 # |
IGL00910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100473644-100511014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100490017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 79
(F79L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014339]
[ENSMUST00000146840]
|
| AlphaFold |
Q9QYI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014339
AA Change: F95L
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195
AA Change: F95L
| 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 |
noncoding transcript
Transcript: ENSMUST00000132886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137688
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146840
AA Change: F79L
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115438
Gene: ENSMUSG00000014195
AA Change: F79L
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
12 |
45 |
3.39e-7 |
SMART |
|
TPR
|
46 |
79 |
1.11e-2 |
SMART |
|
TPR
|
80 |
113 |
4.09e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154972
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155152
AA Change: F85L
|
| SMART Domains |
Protein: ENSMUSP00000116793
Gene: ENSMUSG00000014195
AA Change: F85L
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
19 |
52 |
3.39e-7 |
SMART |
|
TPR
|
53 |
86 |
1.11e-2 |
SMART |
|
Blast:TPR
|
95 |
128 |
1e-13 |
BLAST |
|
Blast:TPR
|
129 |
162 |
3e-14 |
BLAST |
|
TPR
|
163 |
196 |
2.29e-4 |
SMART |
|
TPR
|
209 |
242 |
1.11e-2 |
SMART |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
G |
15: 84,840,020 (GRCm39) |
L109P |
probably damaging |
Het |
| Aacs |
T |
A |
5: 125,585,772 (GRCm39) |
M316K |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,722,469 (GRCm39) |
V375A |
probably damaging |
Het |
| Adgra2 |
C |
A |
8: 27,576,011 (GRCm39) |
A13E |
possibly damaging |
Het |
| Ankrd34c |
A |
T |
9: 89,611,079 (GRCm39) |
S421T |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,832,386 (GRCm39) |
M298L |
probably benign |
Het |
| Casq2 |
T |
C |
3: 102,017,547 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,406,395 (GRCm39) |
T762A |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,285,666 (GRCm39) |
V389A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,105,889 (GRCm39) |
|
probably benign |
Het |
| Dyrk3 |
A |
G |
1: 131,064,073 (GRCm39) |
I3T |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,926,833 (GRCm39) |
I641T |
probably benign |
Het |
| Furin |
A |
G |
7: 80,040,744 (GRCm39) |
V698A |
probably benign |
Het |
| Lratd1 |
T |
C |
12: 14,200,527 (GRCm39) |
S67G |
probably benign |
Het |
| Prl2c5 |
G |
A |
13: 13,364,061 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,559,279 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,618,224 (GRCm39) |
|
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,722,728 (GRCm39) |
Y575C |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,887 (GRCm39) |
E19G |
probably damaging |
Het |
| Tsfm |
G |
T |
10: 126,864,228 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dnajc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Dnajc7
|
APN |
11 |
100,475,111 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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