Incidental Mutation 'R6086:Dnajc6'
| ID |
482467 |
| 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 |
044427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101455004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 65
(S65L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
[ENSMUST00000149047]
[ENSMUST00000154120]
|
| AlphaFold |
Q80TZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038207
AA Change: S35L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: S35L
| 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: ENSMUST00000094953
|
| SMART Domains |
Protein: ENSMUSP00000092560
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: 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 |
probably benign
Transcript: ENSMUST00000106933
AA Change: S65L
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: S65L
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0983 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (65/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,065,164 (GRCm39) |
K4044N |
probably benign |
Het |
| Asic4 |
G |
A |
1: 75,449,887 (GRCm39) |
V468I |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,141,654 (GRCm39) |
V348D |
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,112,840 (GRCm39) |
V1205A |
possibly damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cap2 |
C |
A |
13: 46,789,188 (GRCm39) |
P131Q |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,316,035 (GRCm39) |
S318P |
probably damaging |
Het |
| Ces1a |
T |
G |
8: 93,753,981 (GRCm39) |
N341H |
probably benign |
Het |
| Cimap2 |
T |
C |
4: 106,470,403 (GRCm39) |
E218G |
probably damaging |
Het |
| Crlf3 |
C |
T |
11: 79,939,436 (GRCm39) |
V352M |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyren |
A |
G |
6: 34,851,555 (GRCm39) |
S127P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,834 (GRCm39) |
T529A |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,880,741 (GRCm39) |
D2619N |
probably damaging |
Het |
| Dnah9 |
A |
C |
11: 65,976,000 (GRCm39) |
S1350A |
probably benign |
Het |
| Dnm3 |
C |
A |
1: 162,148,602 (GRCm39) |
R256S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,709,230 (GRCm39) |
D795G |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,238,120 (GRCm39) |
W367R |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,548,796 (GRCm39) |
H69Q |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,440,772 (GRCm39) |
T220S |
probably benign |
Het |
| Furin |
G |
T |
7: 80,045,179 (GRCm39) |
H248Q |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,911,396 (GRCm39) |
L410Q |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Gm9742 |
T |
C |
13: 8,080,069 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
G |
2: 132,380,034 (GRCm39) |
S252P |
probably damaging |
Het |
| Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
| Hspa1l |
T |
C |
17: 35,197,131 (GRCm39) |
V390A |
possibly damaging |
Het |
| Htr3b |
T |
C |
9: 48,858,598 (GRCm39) |
S94G |
probably benign |
Het |
| Klf10 |
G |
T |
15: 38,297,181 (GRCm39) |
S271R |
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 43,851,158 (GRCm39) |
L197Q |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,924,549 (GRCm39) |
R1861G |
probably damaging |
Het |
| Myo9a |
C |
T |
9: 59,697,340 (GRCm39) |
Q374* |
probably null |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Ncapg |
T |
C |
5: 45,850,578 (GRCm39) |
L728P |
probably damaging |
Het |
| Nfxl1 |
A |
C |
5: 72,698,362 (GRCm39) |
F228V |
probably benign |
Het |
| Ntaq1 |
C |
A |
15: 58,014,024 (GRCm39) |
A71E |
probably damaging |
Het |
| Oc90 |
A |
G |
15: 65,761,560 (GRCm39) |
S153P |
probably damaging |
Het |
| Or4c123 |
A |
G |
2: 89,127,198 (GRCm39) |
C139R |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,745 (GRCm39) |
*308Q |
probably null |
Het |
| Pbk |
A |
T |
14: 66,052,702 (GRCm39) |
K182* |
probably null |
Het |
| Piezo1 |
A |
G |
8: 123,228,396 (GRCm39) |
F296S |
possibly damaging |
Het |
| Psmg1 |
T |
A |
16: 95,781,244 (GRCm39) |
Y288F |
probably damaging |
Het |
| Rab11fip4 |
G |
A |
11: 79,574,306 (GRCm39) |
D132N |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,787 (GRCm39) |
D1051G |
probably damaging |
Het |
| Reep5 |
A |
C |
18: 34,490,184 (GRCm39) |
D104E |
probably damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,845,403 (GRCm39) |
Y441H |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Sema3b |
T |
C |
9: 107,478,047 (GRCm39) |
D446G |
probably damaging |
Het |
| Sema4d |
C |
T |
13: 51,867,781 (GRCm39) |
R190Q |
probably damaging |
Het |
| Slco3a1 |
G |
A |
7: 73,968,338 (GRCm39) |
R461C |
possibly damaging |
Het |
| Spmap2l |
T |
A |
5: 77,209,152 (GRCm39) |
V458E |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,899,473 (GRCm39) |
I2562F |
possibly damaging |
Het |
| Tmem40 |
G |
T |
6: 115,710,628 (GRCm39) |
N120K |
possibly damaging |
Het |
| Tmod3 |
T |
C |
9: 75,407,405 (GRCm39) |
H351R |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,913,690 (GRCm39) |
V1268M |
probably damaging |
Het |
| Tpmt |
T |
A |
13: 47,188,506 (GRCm39) |
D132V |
probably damaging |
Het |
| Trgc3 |
T |
C |
13: 19,447,454 (GRCm39) |
S136P |
probably damaging |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,537,036 (GRCm39) |
E264G |
probably benign |
Het |
| Urah |
A |
G |
7: 140,416,711 (GRCm39) |
I60M |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,016,519 (GRCm39) |
S328T |
possibly damaging |
Het |
| Vmn2r27 |
G |
C |
6: 124,168,958 (GRCm39) |
T724R |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,177 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
T |
A |
17: 33,521,478 (GRCm39) |
W316R |
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,248,883 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCATTGTAGATCAGGACTC -3'
(R):5'- TGGCCAGGAAGAATGTACAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation