Incidental Mutation 'R5391:Dnajc6'
| ID |
425839 |
| 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 |
042963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5391 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 101485355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
|
| AlphaFold |
Q80TZ3 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000106933
|
| SMART Domains |
Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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 |
|---|
| Abcb1b |
G |
A |
5: 8,855,481 (GRCm39) |
M38I |
probably null |
Het |
| Actl7a |
A |
G |
4: 56,743,661 (GRCm39) |
T63A |
probably benign |
Het |
| Amfr |
G |
A |
8: 94,702,676 (GRCm39) |
P497S |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,325,352 (GRCm39) |
I122V |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 63,965,901 (GRCm39) |
T1011K |
possibly damaging |
Het |
| Cbfa2t3 |
G |
A |
8: 123,360,134 (GRCm39) |
R506* |
probably null |
Het |
| Ccs |
C |
G |
19: 4,883,510 (GRCm39) |
C96S |
probably benign |
Het |
| Cpt1a |
A |
G |
19: 3,399,260 (GRCm39) |
D20G |
probably damaging |
Het |
| Ctdspl2 |
G |
A |
2: 121,834,629 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,582,510 (GRCm39) |
Y365C |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,689,299 (GRCm39) |
M38I |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,885,120 (GRCm39) |
S450G |
probably benign |
Het |
| Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,269,404 (GRCm39) |
N803S |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,875,894 (GRCm39) |
M477K |
probably benign |
Het |
| Itgb8 |
A |
C |
12: 119,134,476 (GRCm39) |
C530W |
probably damaging |
Het |
| Krt78 |
C |
A |
15: 101,860,263 (GRCm39) |
E218* |
probably null |
Het |
| Lpar1 |
A |
G |
4: 58,486,902 (GRCm39) |
L105P |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
| Mov10 |
G |
A |
3: 104,709,849 (GRCm39) |
H346Y |
probably benign |
Het |
| Nfia |
A |
G |
4: 97,671,538 (GRCm39) |
I83V |
probably damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,150 (GRCm39) |
A181E |
probably damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,808 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pcdhgb6 |
T |
G |
18: 37,875,640 (GRCm39) |
I116S |
probably damaging |
Het |
| Pdcd6ip |
G |
T |
9: 113,520,586 (GRCm39) |
Q133K |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
| Pik3cd |
A |
T |
4: 149,743,588 (GRCm39) |
V207E |
probably damaging |
Het |
| Ptov1 |
T |
C |
7: 44,513,008 (GRCm39) |
Q397R |
probably damaging |
Het |
| Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
| Rasl12 |
G |
T |
9: 65,305,949 (GRCm39) |
A35S |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,330,044 (GRCm39) |
V657A |
possibly damaging |
Het |
| Sin3a |
G |
A |
9: 57,012,957 (GRCm39) |
R612H |
probably damaging |
Het |
| Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
| Tbce |
T |
C |
13: 14,180,550 (GRCm39) |
I293M |
probably damaging |
Het |
| Tektl1 |
G |
A |
10: 78,588,688 (GRCm39) |
Q41* |
probably null |
Het |
| Tmem176a |
T |
C |
6: 48,821,630 (GRCm39) |
L204P |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,193,358 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
T |
1: 74,029,568 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
A |
16: 44,037,826 (GRCm39) |
S769T |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,491 (GRCm39) |
T23A |
probably null |
Het |
| Vps26a |
A |
G |
10: 62,292,526 (GRCm39) |
*328Q |
probably null |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,316,906 (GRCm39) |
I729K |
unknown |
Het |
| Zbtb44 |
A |
G |
9: 30,964,601 (GRCm39) |
|
probably null |
Het |
| Zfp800 |
A |
T |
6: 28,242,992 (GRCm39) |
S658T |
probably damaging |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
| Zfp935 |
G |
T |
13: 62,602,632 (GRCm39) |
Y189* |
probably null |
Het |
| Zkscan1 |
T |
A |
5: 138,095,363 (GRCm39) |
H203Q |
probably benign |
Het |
| Zkscan14 |
T |
C |
5: 145,132,604 (GRCm39) |
D309G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAATTCAGGGTCCGAAC -3'
(R):5'- TGAGAAGCCCACACCTATGC -3'
Sequencing Primer
(F):5'- AGGGTCCGAACTCATCTTCAATG -3'
(R):5'- ACACTAGTGCTTAAACTCTCACTTTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation