Incidental Mutation 'R6495:Dnajc6'
| ID |
520398 |
| 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 |
044627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 101492262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 766
(Q766*)
|
| 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
AA Change: Q736*
|
| SMART Domains |
Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: Q736*
| 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
AA Change: Q698*
|
| SMART Domains |
Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: Q698*
| 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
AA Change: Q698*
|
| SMART Domains |
Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: Q698*
| 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
AA Change: Q698*
|
| SMART Domains |
Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: Q698*
| 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
AA Change: Q766*
|
| SMART Domains |
Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: Q766*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
A |
12: 112,740,148 (GRCm39) |
E502V |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,743,132 (GRCm39) |
Y321* |
probably null |
Het |
| Apob |
A |
G |
12: 8,040,394 (GRCm39) |
K577R |
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,486,950 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,955,790 (GRCm39) |
|
probably null |
Het |
| Atp13a5 |
C |
T |
16: 29,140,440 (GRCm39) |
|
probably null |
Het |
| Bcan |
C |
A |
3: 87,903,904 (GRCm39) |
A194S |
possibly damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,093 (GRCm39) |
T32A |
probably benign |
Het |
| Cd82 |
A |
G |
2: 93,260,357 (GRCm39) |
V90A |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,451,829 (GRCm39) |
R714C |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,512,519 (GRCm39) |
Y311H |
probably damaging |
Het |
| Cyp39a1 |
T |
C |
17: 44,002,585 (GRCm39) |
Y267H |
probably benign |
Het |
| Dusp3 |
T |
C |
11: 101,872,653 (GRCm39) |
I48V |
probably benign |
Het |
| Eif3c |
A |
T |
7: 126,146,672 (GRCm39) |
F809I |
probably damaging |
Het |
| Exosc10 |
C |
T |
4: 148,647,329 (GRCm39) |
P213S |
probably benign |
Het |
| Galns |
C |
T |
8: 123,327,349 (GRCm39) |
G141D |
probably damaging |
Het |
| Gm3233 |
A |
T |
10: 77,594,886 (GRCm39) |
|
probably benign |
Het |
| Hadha |
A |
T |
5: 30,325,048 (GRCm39) |
L714H |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,198,763 (GRCm39) |
M123T |
probably damaging |
Het |
| Nt5dc1 |
A |
G |
10: 34,200,365 (GRCm39) |
L217P |
probably damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,577 (GRCm39) |
D54E |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,497 (GRCm39) |
R307C |
probably damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,989 (GRCm39) |
D204E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,637,159 (GRCm39) |
C591S |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,409 (GRCm39) |
N239S |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,012,961 (GRCm39) |
V549E |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,866,973 (GRCm39) |
S92C |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,257,745 (GRCm39) |
S90G |
probably damaging |
Het |
| Rfc1 |
G |
A |
5: 65,431,158 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,381,208 (GRCm39) |
F1046L |
probably benign |
Het |
| S100a16 |
C |
T |
3: 90,449,735 (GRCm39) |
R73C |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,089,928 (GRCm39) |
Y893H |
possibly damaging |
Het |
| Stt3b |
T |
A |
9: 115,096,388 (GRCm39) |
Y253F |
possibly damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,160 (GRCm39) |
*345Q |
probably null |
Het |
| Tas2r119 |
G |
A |
15: 32,177,676 (GRCm39) |
V81I |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,128 (GRCm39) |
I22V |
probably benign |
Het |
| Tbc1d19 |
T |
G |
5: 54,046,555 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
A |
T |
6: 65,582,846 (GRCm39) |
I218F |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,307,120 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
T |
C |
8: 79,008,963 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Tut7 |
T |
C |
13: 59,947,753 (GRCm39) |
E454G |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,854,213 (GRCm39) |
C214* |
probably null |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,572 (GRCm39) |
I682F |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,287 (GRCm39) |
M505K |
probably benign |
Het |
| Wdr19 |
A |
T |
5: 65,415,466 (GRCm39) |
T1313S |
probably benign |
Het |
| Zbtb22 |
A |
G |
17: 34,136,224 (GRCm39) |
D123G |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,813,395 (GRCm39) |
I138T |
probably benign |
Het |
| Zfp706 |
T |
C |
15: 37,004,045 (GRCm39) |
K7R |
unknown |
Het |
| Zkscan3 |
G |
A |
13: 21,572,075 (GRCm39) |
P519L |
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 |
|
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'- TGTTACCACCCAAAGCAGTTTC -3'
(R):5'- CACCCTGTACCAGTCTCATG -3'
Sequencing Primer
(F):5'- GCAGTTTCCACTAAAATCATCACAAG -3'
(R):5'- GTCATCATCCTTACCCAAGTTAGTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation