Incidental Mutation 'R7072:Dnajc6'
ID |
548946 |
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 |
045168-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R7072 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 101472812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 381
(H381P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
[ENSMUST00000149047]
|
AlphaFold |
Q80TZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038207
AA Change: H351P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044251 Gene: ENSMUSG00000028528 AA Change: H351P
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: H313P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092560 Gene: ENSMUSG00000028528 AA Change: H313P
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: H313P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102542 Gene: ENSMUSG00000028528 AA Change: H313P
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: H313P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102543 Gene: ENSMUSG00000028528 AA Change: H313P
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: H381P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102546 Gene: ENSMUSG00000028528 AA Change: H381P
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149047
|
SMART Domains |
Protein: ENSMUSP00000119542 Gene: ENSMUSG00000028528
Domain | Start | End | E-Value | Type |
PDB:3N0A|A
|
30 |
194 |
1e-118 |
PDB |
SCOP:d1d5ra2
|
50 |
187 |
2e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (73/73) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,967,592 (GRCm39) |
L2214Q |
probably damaging |
Het |
Acbd3 |
T |
C |
1: 180,553,934 (GRCm39) |
F90L |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,751,786 (GRCm39) |
Q23L |
|
Het |
Anpep |
A |
T |
7: 79,485,127 (GRCm39) |
L620I |
possibly damaging |
Het |
Bpi |
T |
C |
2: 158,113,998 (GRCm39) |
S299P |
probably damaging |
Het |
Bpifa2 |
A |
G |
2: 153,853,293 (GRCm39) |
D132G |
probably damaging |
Het |
Brd7 |
T |
A |
8: 89,073,615 (GRCm39) |
E258D |
probably benign |
Het |
Btc |
T |
C |
5: 91,550,796 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
A |
G |
6: 118,573,067 (GRCm39) |
V2039A |
|
Het |
Calm4 |
T |
A |
13: 3,888,275 (GRCm39) |
V127E |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,644,766 (GRCm39) |
S1280T |
probably damaging |
Het |
Cc2d2b |
T |
C |
19: 40,748,803 (GRCm39) |
V80A |
unknown |
Het |
Ccdc33 |
A |
G |
9: 58,019,267 (GRCm39) |
*279R |
probably null |
Het |
Cercam |
T |
A |
2: 29,771,936 (GRCm39) |
H585Q |
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,429,296 (GRCm39) |
D138G |
probably benign |
Het |
Cox4i2 |
T |
C |
2: 152,602,573 (GRCm39) |
F89S |
probably damaging |
Het |
Crb1 |
G |
A |
1: 139,165,013 (GRCm39) |
T1098I |
probably damaging |
Het |
Csnk1e |
C |
T |
15: 79,322,967 (GRCm39) |
|
probably null |
Het |
Ctsj |
C |
A |
13: 61,150,897 (GRCm39) |
E187* |
probably null |
Het |
Dagla |
A |
T |
19: 10,233,659 (GRCm39) |
|
probably null |
Het |
Dnah7a |
G |
A |
1: 53,458,912 (GRCm39) |
T3742I |
probably benign |
Het |
Dyrk3 |
A |
T |
1: 131,057,465 (GRCm39) |
L236Q |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
Frmd5 |
A |
T |
2: 121,388,351 (GRCm39) |
L241Q |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,106,749 (GRCm39) |
T662A |
probably benign |
Het |
Gins1 |
C |
T |
2: 150,751,671 (GRCm39) |
|
probably null |
Het |
Gli3 |
T |
A |
13: 15,900,280 (GRCm39) |
N1222K |
possibly damaging |
Het |
Gm4302 |
G |
T |
10: 100,177,521 (GRCm39) |
Q268H |
unknown |
Het |
Grin2d |
A |
T |
7: 45,506,922 (GRCm39) |
W518R |
probably damaging |
Het |
Grm5 |
A |
T |
7: 87,723,512 (GRCm39) |
I601F |
probably damaging |
Het |
Gtpbp10 |
A |
T |
5: 5,596,365 (GRCm39) |
N193K |
probably benign |
Het |
Igdcc4 |
T |
G |
9: 65,038,013 (GRCm39) |
V798G |
probably damaging |
Het |
Igkv8-19 |
A |
T |
6: 70,318,396 (GRCm39) |
F13I |
probably benign |
Het |
Kctd11 |
T |
A |
11: 69,770,621 (GRCm39) |
N139I |
probably benign |
Het |
Lmo7 |
G |
A |
14: 102,136,136 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
A |
T |
15: 91,686,123 (GRCm39) |
M2155L |
probably benign |
Het |
Ly6g6g |
C |
T |
15: 74,644,119 (GRCm39) |
V66M |
|
Het |
Mettl24 |
A |
C |
10: 40,559,509 (GRCm39) |
H53P |
probably benign |
Het |
Mier2 |
A |
G |
10: 79,376,133 (GRCm39) |
M264T |
unknown |
Het |
Mplkip |
T |
C |
13: 17,870,122 (GRCm39) |
I18T |
unknown |
Het |
Mtmr2 |
T |
C |
9: 13,699,916 (GRCm39) |
V101A |
probably benign |
Het |
Nbeal2 |
G |
T |
9: 110,455,119 (GRCm39) |
T2593K |
probably benign |
Het |
Neu3 |
A |
T |
7: 99,463,404 (GRCm39) |
C106* |
probably null |
Het |
Nutm1 |
T |
C |
2: 112,082,192 (GRCm39) |
T295A |
probably benign |
Het |
Or2h2b-ps1 |
A |
G |
17: 37,481,269 (GRCm39) |
I90T |
probably benign |
Het |
Pcdhga7 |
G |
T |
18: 37,850,329 (GRCm39) |
V779L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,161,858 (GRCm39) |
E231G |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Plcg2 |
T |
A |
8: 118,316,574 (GRCm39) |
|
probably null |
Het |
Pofut2 |
T |
C |
10: 77,095,263 (GRCm39) |
L36P |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,299,754 (GRCm39) |
N635S |
|
Het |
Pramel14 |
A |
C |
4: 143,720,698 (GRCm39) |
I81R |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,395,350 (GRCm39) |
Y818H |
probably damaging |
Het |
Rad18 |
T |
C |
6: 112,658,401 (GRCm39) |
E168G |
probably benign |
Het |
Rev1 |
C |
A |
1: 38,106,626 (GRCm39) |
E634* |
probably null |
Het |
Sec24d |
A |
G |
3: 123,124,000 (GRCm39) |
D403G |
probably damaging |
Het |
Sema5a |
C |
A |
15: 32,575,105 (GRCm39) |
H404Q |
possibly damaging |
Het |
Shank1 |
A |
G |
7: 43,994,370 (GRCm39) |
S844G |
unknown |
Het |
Slc32a1 |
T |
A |
2: 158,453,416 (GRCm39) |
Y85* |
probably null |
Het |
Slc39a4 |
T |
C |
15: 76,497,458 (GRCm39) |
T485A |
probably damaging |
Het |
Sp5 |
A |
C |
2: 70,307,074 (GRCm39) |
Q253P |
probably benign |
Het |
Sspo |
A |
T |
6: 48,431,913 (GRCm39) |
D709V |
probably damaging |
Het |
Sucnr1 |
A |
G |
3: 59,993,604 (GRCm39) |
Y44C |
probably damaging |
Het |
Taar8b |
A |
G |
10: 23,967,876 (GRCm39) |
L106P |
possibly damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,991,494 (GRCm39) |
D922G |
probably damaging |
Het |
Tbx6 |
A |
T |
7: 126,383,912 (GRCm39) |
D322V |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,065,459 (GRCm39) |
S1630T |
possibly damaging |
Het |
Ube2o |
G |
A |
11: 116,432,327 (GRCm39) |
P880S |
probably benign |
Het |
Uck1 |
C |
T |
2: 32,148,178 (GRCm39) |
R182Q |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,340,957 (GRCm39) |
H2840L |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
Wnk1 |
A |
T |
6: 119,914,822 (GRCm39) |
I1909N |
unknown |
Het |
Zfp352 |
C |
T |
4: 90,112,661 (GRCm39) |
T267I |
probably benign |
Het |
Zfp773 |
A |
T |
7: 7,135,874 (GRCm39) |
C241S |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,668,339 (GRCm39) |
D8G |
probably 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 |
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 |
R9052:Dnajc6
|
UTSW |
4 |
101,496,617 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- GTCTTGCTTTCATGGAGAGAAGC -3'
(R):5'- TCAATGGAAAGACTTCAAACCTGC -3'
Sequencing Primer
(F):5'- CTAGAAATGAACCTGGGAGGCC -3'
(R):5'- CATAGCCTCTCTAAGTGATGGAGC -3'
|
Posted On |
2019-05-15 |