Incidental Mutation 'R9052:Dnajc6'
| ID |
688437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc6
|
| Ensembl Gene |
ENSMUSG00000028528 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C6 |
| Synonyms |
auxilin, 2810027M23Rik |
| MMRRC Submission |
068878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R9052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101496617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 928
(V928A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
|
| AlphaFold |
Q80TZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038207
AA Change: V898A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: V898A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d5ra2
|
88 |
244 |
1e-20 |
SMART |
|
PTEN_C2
|
251 |
390 |
5.95e-42 |
SMART |
|
low complexity region
|
502 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
694 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
840 |
N/A |
INTRINSIC |
|
DnaJ
|
873 |
934 |
2e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094953
AA Change: V860A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: V860A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d5ra2
|
50 |
206 |
2e-20 |
SMART |
|
PTEN_C2
|
213 |
352 |
5.95e-42 |
SMART |
|
low complexity region
|
464 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
802 |
N/A |
INTRINSIC |
|
DnaJ
|
835 |
896 |
2e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106929
AA Change: V860A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: V860A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d5ra2
|
50 |
206 |
2e-20 |
SMART |
|
PTEN_C2
|
213 |
352 |
5.95e-42 |
SMART |
|
low complexity region
|
464 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
802 |
N/A |
INTRINSIC |
|
DnaJ
|
835 |
896 |
2e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106930
AA Change: V860A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: V860A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d5ra2
|
50 |
206 |
2e-20 |
SMART |
|
PTEN_C2
|
213 |
352 |
5.95e-42 |
SMART |
|
low complexity region
|
464 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
802 |
N/A |
INTRINSIC |
|
DnaJ
|
835 |
896 |
2e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106933
AA Change: V928A
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: V928A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
SCOP:d1d5ra2
|
118 |
274 |
1e-20 |
SMART |
|
PTEN_C2
|
281 |
420 |
5.95e-42 |
SMART |
|
low complexity region
|
532 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
709 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
870 |
N/A |
INTRINSIC |
|
DnaJ
|
903 |
964 |
2e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (69/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous and heterozygous for a knock-out allele exhibit postnatal lethality and decreased body weight with homozygotes exhibiting decreased synpatic vesicle recycling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,778,031 (GRCm39) |
E71G |
probably damaging |
Het |
| 2610021A01Rik |
G |
T |
7: 41,275,449 (GRCm39) |
G384V |
probably benign |
Het |
| 4931406B18Rik |
T |
A |
7: 43,147,631 (GRCm39) |
R247* |
probably null |
Het |
| Abca4 |
G |
T |
3: 121,940,908 (GRCm39) |
V1576F |
possibly damaging |
Het |
| Acsl6 |
A |
T |
11: 54,232,615 (GRCm39) |
T489S |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,792,764 (GRCm39) |
R64H |
probably benign |
Het |
| Atad2b |
C |
A |
12: 5,015,982 (GRCm39) |
F569L |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,330,032 (GRCm39) |
I266N |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,936,301 (GRCm39) |
|
probably null |
Het |
| Coch |
T |
C |
12: 51,640,408 (GRCm39) |
M1T |
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,710,733 (GRCm39) |
R537L |
unknown |
Het |
| Crb1 |
C |
T |
1: 139,171,161 (GRCm39) |
R743Q |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
| Cyp4f15 |
C |
T |
17: 32,911,589 (GRCm39) |
T157I |
probably damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,154,544 (GRCm39) |
Q1212K |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,911,463 (GRCm39) |
Y175H |
probably damaging |
Het |
| Dhcr7 |
C |
A |
7: 143,395,060 (GRCm39) |
T192K |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
| Dmpk |
G |
A |
7: 18,821,614 (GRCm39) |
V291M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,206,045 (GRCm39) |
Y859C |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,236,411 (GRCm39) |
Q1592* |
probably null |
Het |
| Gm10226 |
T |
A |
17: 21,910,959 (GRCm39) |
C65S |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,881,968 (GRCm39) |
K275R |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,152,246 (GRCm39) |
T581A |
probably damaging |
Het |
| Ighv1-24 |
C |
T |
12: 114,736,555 (GRCm39) |
C115Y |
probably damaging |
Het |
| Il18 |
C |
T |
9: 50,489,090 (GRCm39) |
L40F |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,390 (GRCm39) |
D113G |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,524,413 (GRCm39) |
D183V |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,090,068 (GRCm39) |
V28M |
probably damaging |
Het |
| Manbal |
T |
C |
2: 157,221,107 (GRCm39) |
L28P |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,339,350 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,501,463 (GRCm39) |
T72A |
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,433,876 (GRCm39) |
|
probably benign |
Het |
| Ms4a1 |
T |
A |
19: 11,233,954 (GRCm39) |
T101S |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,062,747 (GRCm39) |
M344V |
probably benign |
Het |
| Naaladl1 |
T |
G |
19: 6,158,716 (GRCm39) |
F283V |
probably benign |
Het |
| Nacc1 |
A |
C |
8: 85,403,377 (GRCm39) |
V166G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,961,773 (GRCm39) |
R452S |
probably damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,105 (GRCm39) |
T252A |
probably damaging |
Het |
| Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
| Or5k16 |
T |
C |
16: 58,736,561 (GRCm39) |
T148A |
probably benign |
Het |
| Or6c214 |
C |
G |
10: 129,591,094 (GRCm39) |
C75S |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,245,708 (GRCm39) |
I847V |
possibly damaging |
Het |
| Plcz1 |
G |
A |
6: 139,968,905 (GRCm39) |
H178Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,508,160 (GRCm39) |
M937K |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,987,478 (GRCm39) |
C672* |
probably null |
Het |
| Rasl11a |
C |
A |
5: 146,782,107 (GRCm39) |
D27E |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,465,893 (GRCm39) |
S860P |
probably damaging |
Het |
| Rfxap |
G |
A |
3: 54,715,155 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
A |
C |
11: 116,494,758 (GRCm39) |
L306R |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,208,459 (GRCm39) |
V826L |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,936,930 (GRCm39) |
V875E |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,709,164 (GRCm39) |
|
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,153,017 (GRCm39) |
K145R |
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 13,060,397 (GRCm39) |
V108E |
possibly damaging |
Het |
| Stat2 |
A |
G |
10: 128,117,538 (GRCm39) |
E352G |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,728 (GRCm39) |
S1408R |
probably benign |
Het |
| Tent5c |
A |
T |
3: 100,380,618 (GRCm39) |
I46K |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,585,166 (GRCm39) |
M102K |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Ttc23 |
C |
A |
7: 67,342,687 (GRCm39) |
C268* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,070,236 (GRCm39) |
F795S |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,673,153 (GRCm39) |
W41R |
probably damaging |
Het |
| Uso1 |
G |
T |
5: 92,328,422 (GRCm39) |
V340F |
probably damaging |
Het |
| Vta1 |
A |
C |
10: 14,551,692 (GRCm39) |
I169R |
probably benign |
Het |
| Zfp317 |
A |
G |
9: 19,556,568 (GRCm39) |
I59V |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 33,039,786 (GRCm39) |
T160I |
probably benign |
Het |
| Zfp955a |
G |
T |
17: 33,461,279 (GRCm39) |
H284Q |
possibly damaging |
Het |
|
| Other mutations in Dnajc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Dnajc6
|
APN |
4 |
101,365,286 (GRCm39) |
intron |
probably benign |
|
|
IGL02336:Dnajc6
|
APN |
4 |
101,471,483 (GRCm39) |
splice site |
probably null |
|
|
IGL02551:Dnajc6
|
APN |
4 |
101,496,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Dnajc6
|
APN |
4 |
101,455,010 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02887:Dnajc6
|
APN |
4 |
101,496,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Dnajc6
|
APN |
4 |
101,474,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Dnajc6
|
APN |
4 |
101,365,274 (GRCm39) |
intron |
probably benign |
|
|
R0091:Dnajc6
|
UTSW |
4 |
101,473,974 (GRCm39) |
splice site |
probably benign |
|
|
R0384:Dnajc6
|
UTSW |
4 |
101,456,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Dnajc6
|
UTSW |
4 |
101,492,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0689:Dnajc6
|
UTSW |
4 |
101,468,450 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1239:Dnajc6
|
UTSW |
4 |
101,492,313 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1421:Dnajc6
|
UTSW |
4 |
101,468,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1424:Dnajc6
|
UTSW |
4 |
101,496,544 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1563:Dnajc6
|
UTSW |
4 |
101,456,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Dnajc6
|
UTSW |
4 |
101,456,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Dnajc6
|
UTSW |
4 |
101,455,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Dnajc6
|
UTSW |
4 |
101,456,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Dnajc6
|
UTSW |
4 |
101,471,435 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2518:Dnajc6
|
UTSW |
4 |
101,470,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4028:Dnajc6
|
UTSW |
4 |
101,474,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Dnajc6
|
UTSW |
4 |
101,496,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Dnajc6
|
UTSW |
4 |
101,468,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Dnajc6
|
UTSW |
4 |
101,468,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Dnajc6
|
UTSW |
4 |
101,468,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Dnajc6
|
UTSW |
4 |
101,407,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Dnajc6
|
UTSW |
4 |
101,456,231 (GRCm39) |
intron |
probably benign |
|
|
R4938:Dnajc6
|
UTSW |
4 |
101,494,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Dnajc6
|
UTSW |
4 |
101,472,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5391:Dnajc6
|
UTSW |
4 |
101,485,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5435:Dnajc6
|
UTSW |
4 |
101,463,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5760:Dnajc6
|
UTSW |
4 |
101,475,839 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6044:Dnajc6
|
UTSW |
4 |
101,473,774 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6086:Dnajc6
|
UTSW |
4 |
101,455,004 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6460:Dnajc6
|
UTSW |
4 |
101,472,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Dnajc6
|
UTSW |
4 |
101,492,262 (GRCm39) |
nonsense |
probably null |
|
|
R6956:Dnajc6
|
UTSW |
4 |
101,471,470 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7072:Dnajc6
|
UTSW |
4 |
101,472,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Dnajc6
|
UTSW |
4 |
101,470,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Dnajc6
|
UTSW |
4 |
101,455,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7226:Dnajc6
|
UTSW |
4 |
101,496,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Dnajc6
|
UTSW |
4 |
101,463,808 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7612:Dnajc6
|
UTSW |
4 |
101,455,123 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7622:Dnajc6
|
UTSW |
4 |
101,497,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7652:Dnajc6
|
UTSW |
4 |
101,463,874 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7789:Dnajc6
|
UTSW |
4 |
101,475,729 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8010:Dnajc6
|
UTSW |
4 |
101,475,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8201:Dnajc6
|
UTSW |
4 |
101,475,960 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8305:Dnajc6
|
UTSW |
4 |
101,480,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Dnajc6
|
UTSW |
4 |
101,468,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Dnajc6
|
UTSW |
4 |
101,470,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Dnajc6
|
UTSW |
4 |
101,496,559 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9160:Dnajc6
|
UTSW |
4 |
101,470,258 (GRCm39) |
unclassified |
probably benign |
|
|
R9258:Dnajc6
|
UTSW |
4 |
101,475,813 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9270:Dnajc6
|
UTSW |
4 |
101,496,559 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9294:Dnajc6
|
UTSW |
4 |
101,408,054 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9386:Dnajc6
|
UTSW |
4 |
101,494,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9664:Dnajc6
|
UTSW |
4 |
101,475,821 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:Dnajc6
|
UTSW |
4 |
101,496,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dnajc6
|
UTSW |
4 |
101,496,625 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAAGCATTTGAGGGTCTTAACC -3'
(R):5'- GCTTCCTGACAACCTCATGC -3'
Sequencing Primer
(F):5'- AGCATTTGAGGGTCTTAACCTTTTTG -3'
(R):5'- GACAACCTCATGCCTTGTGAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation