Incidental Mutation 'IGL03271:Dnajc6'
| ID |
415288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajc6
|
| Ensembl Gene |
ENSMUSG00000028528 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C6 |
| Synonyms |
auxilin, 2810027M23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL03271
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 101365274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000149047]
[ENSMUST00000154120]
|
| AlphaFold |
Q80TZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038207
|
| SMART Domains |
Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
| 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 benign
Transcript: ENSMUST00000106929
|
| SMART Domains |
Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
| 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 benign
Transcript: ENSMUST00000106930
|
| SMART Domains |
Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
| 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 |
noncoding transcript
Transcript: ENSMUST00000146489
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154120
|
| SMART Domains |
Protein: ENSMUSP00000114840
Gene: ENSMUSG00000028528
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3N0A|A
|
30 |
116 |
4e-54 |
PDB |
|
SCOP:d1d5ra2
|
50 |
101 |
1e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,392,408 (GRCm39) |
V248L |
probably benign |
Het |
| Actl6b |
T |
A |
5: 137,564,246 (GRCm39) |
I256N |
probably damaging |
Het |
| Agl |
G |
T |
3: 116,572,776 (GRCm39) |
T825K |
probably benign |
Het |
| Arid5b |
A |
T |
10: 67,933,287 (GRCm39) |
S629T |
possibly damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,727,708 (GRCm39) |
I495T |
possibly damaging |
Het |
| Bcl6 |
G |
T |
16: 23,788,756 (GRCm39) |
H537Q |
probably benign |
Het |
| Cdh12 |
A |
G |
15: 21,586,539 (GRCm39) |
E786G |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,373,663 (GRCm39) |
N1307K |
probably benign |
Het |
| Cops3 |
A |
T |
11: 59,723,889 (GRCm39) |
N89K |
probably damaging |
Het |
| Cyp4a29 |
T |
C |
4: 115,111,705 (GRCm39) |
V494A |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,676,710 (GRCm39) |
H675R |
possibly damaging |
Het |
| Dock10 |
C |
A |
1: 80,483,126 (GRCm39) |
K2107N |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,386,275 (GRCm39) |
L382* |
probably null |
Het |
| Faxc |
A |
C |
4: 21,948,757 (GRCm39) |
K156N |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gapvd1 |
C |
A |
2: 34,617,219 (GRCm39) |
|
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,382,076 (GRCm39) |
Y717H |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,699 (GRCm39) |
T223S |
probably benign |
Het |
| Gstm3 |
C |
A |
3: 107,873,513 (GRCm39) |
V153F |
possibly damaging |
Het |
| H2-M10.5 |
G |
T |
17: 37,084,243 (GRCm39) |
L68F |
possibly damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,474,175 (GRCm39) |
H4756N |
possibly damaging |
Het |
| Ift140 |
C |
A |
17: 25,306,880 (GRCm39) |
R872S |
probably damaging |
Het |
| Lars2 |
T |
A |
9: 123,288,549 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
G |
7: 27,029,240 (GRCm39) |
V149A |
unknown |
Het |
| Mpp2 |
A |
T |
11: 101,954,249 (GRCm39) |
|
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,334,744 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
C |
A |
9: 48,304,345 (GRCm39) |
P144Q |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,982 (GRCm39) |
I126N |
probably damaging |
Het |
| Or5p6 |
C |
T |
7: 107,630,714 (GRCm39) |
V279M |
probably damaging |
Het |
| Parp4 |
C |
A |
14: 56,823,082 (GRCm39) |
N67K |
probably benign |
Het |
| Pdk1 |
G |
T |
2: 71,710,374 (GRCm39) |
|
probably benign |
Het |
| Phip |
A |
T |
9: 82,766,877 (GRCm39) |
|
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,658,883 (GRCm39) |
S202P |
probably benign |
Het |
| Pmpcb |
A |
G |
5: 21,943,874 (GRCm39) |
Y36C |
probably benign |
Het |
| Pole |
T |
C |
5: 110,466,185 (GRCm39) |
S1296P |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,610,014 (GRCm39) |
S4P |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sec61a2 |
A |
T |
2: 5,887,745 (GRCm39) |
L79* |
probably null |
Het |
| Slc2a5 |
T |
C |
4: 150,220,040 (GRCm39) |
L152P |
probably damaging |
Het |
| Smu1 |
C |
T |
4: 40,738,408 (GRCm39) |
G442D |
probably benign |
Het |
| Spag16 |
T |
A |
1: 69,892,511 (GRCm39) |
N97K |
probably benign |
Het |
| Spag6l |
C |
T |
16: 16,598,592 (GRCm39) |
D300N |
probably damaging |
Het |
| Sult3a1 |
A |
G |
10: 33,739,997 (GRCm39) |
T19A |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,047,513 (GRCm39) |
H704R |
probably benign |
Het |
| Uba1 |
T |
A |
X: 20,541,956 (GRCm39) |
D569E |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,205,473 (GRCm39) |
Y689* |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,734,762 (GRCm39) |
|
probably benign |
Het |
| Utp15 |
C |
A |
13: 98,390,202 (GRCm39) |
V282F |
probably damaging |
Het |
| Vmn1r184 |
A |
G |
7: 25,967,034 (GRCm39) |
Y260C |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,596 (GRCm39) |
V45A |
probably benign |
Het |
| Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation