Incidental Mutation 'BB020:Dnajc7'
| ID |
643130 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
BB020
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100473644-100511014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100487038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 145
(Y145C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014339]
[ENSMUST00000146840]
|
| AlphaFold |
Q9QYI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014339
AA Change: Y145C
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195
AA Change: Y145C
| 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 damaging
Transcript: ENSMUST00000146840
AA Change: Y129C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115438
Gene: ENSMUSG00000014195
AA Change: Y129C
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000116793
Gene: ENSMUSG00000014195
AA Change: Y97C
| 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 |
|
| Meta Mutation Damage Score |
0.1770 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,227 (GRCm39) |
V125A |
unknown |
Het |
| Adam34 |
T |
A |
8: 44,103,911 (GRCm39) |
H578L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,400,811 (GRCm39) |
M678K |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,035,919 (GRCm39) |
C271S |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,836,986 (GRCm39) |
L1150P |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,168,214 (GRCm39) |
E279K |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,275,029 (GRCm39) |
K400* |
probably null |
Het |
| Cpsf4 |
T |
A |
5: 145,104,168 (GRCm39) |
M1K |
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,488,072 (GRCm39) |
Q992L |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,810,279 (GRCm39) |
D892E |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,623,539 (GRCm39) |
K23E |
possibly damaging |
Het |
| Filip1 |
T |
G |
9: 79,727,329 (GRCm39) |
K430T |
possibly damaging |
Het |
| Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
| Hip1 |
A |
T |
5: 135,489,310 (GRCm39) |
N45K |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,581 (GRCm39) |
S60P |
probably damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,122,029 (GRCm39) |
C115* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,303,444 (GRCm39) |
T353A |
probably benign |
Het |
| Mast3 |
A |
T |
8: 71,239,279 (GRCm39) |
V433E |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,909,071 (GRCm39) |
M660K |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,439,379 (GRCm39) |
Y380C |
probably damaging |
Het |
| Or5b111 |
T |
A |
19: 13,291,569 (GRCm39) |
M27L |
probably benign |
Het |
| Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,288,859 (GRCm39) |
W473R |
probably damaging |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,891,565 (GRCm39) |
L85P |
probably damaging |
Het |
| Sprr3 |
T |
C |
3: 92,364,515 (GRCm39) |
I110V |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,943,572 (GRCm39) |
E326G |
probably benign |
Het |
| Tapbpl |
T |
G |
6: 125,207,233 (GRCm39) |
Q152P |
probably damaging |
Het |
| Tectb |
C |
T |
19: 55,183,105 (GRCm39) |
L319F |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 44,000,121 (GRCm39) |
G413D |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,592,178 (GRCm39) |
H84R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,285,686 (GRCm39) |
N2437S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,897,885 (GRCm39) |
Q1152R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,467,224 (GRCm39) |
T92A |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,944,788 (GRCm39) |
V35A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zfp169 |
A |
G |
13: 48,643,957 (GRCm39) |
V390A |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGACATAGCCAACGGG -3'
(R):5'- GGGTTTCTAGATCAGGTCTCTATC -3'
Sequencing Primer
(F):5'- CGGGAATATAAGCAAGCTGATTTTTG -3'
(R):5'- CTGGAACTCACTATGTAGTTCAGGC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation