Incidental Mutation 'R1282:Dnajc7'
| ID |
151069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc7
|
| Ensembl Gene |
ENSMUSG00000014195 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C7 |
| Synonyms |
2010003F24Rik, mDj11, Ttc2, mTpr2, 2010004G07Rik |
| MMRRC Submission |
039348-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100473644-100511014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100475467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 381
(D381G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014339]
[ENSMUST00000103120]
|
| AlphaFold |
Q9QYI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014339
AA Change: D381G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195
AA Change: D381G
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
| Fastkd3 |
C |
A |
13: 68,732,676 (GRCm39) |
N332K |
possibly damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
| H2-K2 |
A |
C |
17: 34,218,421 (GRCm39) |
I165S |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
| Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
| Rtp3 |
T |
C |
9: 110,815,988 (GRCm39) |
K188E |
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,283,620 (GRCm39) |
L101P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
| Snrk |
G |
T |
9: 121,989,586 (GRCm39) |
R310L |
possibly damaging |
Het |
| Snx11 |
T |
C |
11: 96,663,987 (GRCm39) |
Y35C |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCACTGAAGAGCGATCTCCTG -3'
(R):5'- ATTTGCTCACTAGCCTGGAAGCC -3'
Sequencing Primer
(F):5'- AGCGATCTCCTGGGTGC -3'
(R):5'- TGGAAGCCAGCAGTTCCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation