Incidental Mutation 'R4065:Dnajc7'
ID |
316074 |
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 |
040972-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4065 (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 100492607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 38
(Y38C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014339]
[ENSMUST00000146840]
|
AlphaFold |
Q9QYI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014339
AA Change: Y38C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000014339 Gene: ENSMUSG00000014195 AA Change: Y38C
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 |
probably benign
Transcript: ENSMUST00000146840
AA Change: Y22C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000115438 Gene: ENSMUSG00000014195 AA Change: Y22C
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: ENSMUST00000154972
|
Predicted Effect |
unknown
Transcript: ENSMUST00000155152
AA Change: Y28C
|
SMART Domains |
Protein: ENSMUSP00000116793 Gene: ENSMUSG00000014195 AA Change: Y28C
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 |
0.1562 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
C |
T |
3: 89,966,073 (GRCm39) |
R178* |
probably null |
Het |
Abcc9 |
T |
C |
6: 142,591,616 (GRCm39) |
E769G |
probably damaging |
Het |
Adcy9 |
C |
A |
16: 4,106,298 (GRCm39) |
V939F |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,308,396 (GRCm39) |
F1643S |
probably damaging |
Het |
B430305J03Rik |
A |
G |
3: 61,271,646 (GRCm39) |
|
probably benign |
Het |
C2cd5 |
A |
G |
6: 143,019,397 (GRCm39) |
I306T |
probably benign |
Het |
Camk1d |
A |
T |
2: 5,570,584 (GRCm39) |
F26I |
probably damaging |
Het |
Cant1 |
G |
T |
11: 118,298,823 (GRCm39) |
D313E |
probably benign |
Het |
Dhx29 |
T |
A |
13: 113,101,276 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,492,405 (GRCm39) |
I1182V |
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,451,639 (GRCm39) |
|
probably null |
Het |
Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,063,346 (GRCm39) |
H4434L |
probably benign |
Het |
Fbxo16 |
T |
A |
14: 65,508,278 (GRCm39) |
N31K |
probably damaging |
Het |
Foxj3 |
T |
C |
4: 119,467,206 (GRCm39) |
I183T |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
Fshr |
T |
C |
17: 89,293,394 (GRCm39) |
Y428C |
probably damaging |
Het |
Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
Grem1 |
A |
G |
2: 113,580,033 (GRCm39) |
L156P |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
Lamc3 |
C |
A |
2: 31,835,270 (GRCm39) |
H1530Q |
probably benign |
Het |
Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mga |
T |
C |
2: 119,777,483 (GRCm39) |
V1846A |
probably damaging |
Het |
Mthfd1l |
A |
G |
10: 3,982,242 (GRCm39) |
H483R |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
Mvp |
A |
G |
7: 126,595,489 (GRCm39) |
V207A |
probably damaging |
Het |
Nsun2 |
T |
C |
13: 69,760,579 (GRCm39) |
|
probably null |
Het |
Or13a26 |
T |
C |
7: 140,284,182 (GRCm39) |
L6P |
probably benign |
Het |
Or8g55 |
T |
C |
9: 39,784,718 (GRCm39) |
I49T |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,134 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
A |
6: 32,213,300 (GRCm39) |
K637* |
probably null |
Het |
Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
Prb1a |
T |
A |
6: 132,184,658 (GRCm39) |
Q325L |
unknown |
Het |
Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
Spcs2 |
A |
G |
7: 99,494,012 (GRCm39) |
I164T |
possibly damaging |
Het |
Ssbp4 |
T |
C |
8: 71,052,210 (GRCm39) |
T77A |
possibly damaging |
Het |
Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uhrf1 |
T |
A |
17: 56,625,020 (GRCm39) |
I521N |
probably damaging |
Het |
Uros |
A |
G |
7: 133,304,057 (GRCm39) |
|
probably null |
Het |
Usp47 |
A |
G |
7: 111,652,623 (GRCm39) |
D100G |
probably benign |
Het |
Utp6 |
T |
C |
11: 79,837,073 (GRCm39) |
R337G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,828,006 (GRCm39) |
T3147A |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
Zfp654 |
G |
A |
16: 64,606,288 (GRCm39) |
T638M |
possibly 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 |
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 |
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'- AGAATCACTGATCCTGGGGAGG -3'
(R):5'- ACCATACCTTGTGGGGTTTG -3'
Sequencing Primer
(F):5'- CTGATCCTGGGGAGGAGTGAG -3'
(R):5'- ATTTCAGGTGTGAACTACCGC -3'
|
Posted On |
2015-05-15 |