Incidental Mutation 'R4028:Dnajc6'
ID |
313080 |
Institutional Source |
Beutler Lab
|
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: 0.080)
|
Stock # |
R4028 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101474054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 485
(C485Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
|
AlphaFold |
Q80TZ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038207
AA Change: C455Y
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044251 Gene: ENSMUSG00000028528 AA Change: C455Y
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 |
possibly damaging
Transcript: ENSMUST00000094953
AA Change: C417Y
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000092560 Gene: ENSMUSG00000028528 AA Change: C417Y
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 |
possibly damaging
Transcript: ENSMUST00000106929
AA Change: C417Y
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102542 Gene: ENSMUSG00000028528 AA Change: C417Y
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 |
possibly damaging
Transcript: ENSMUST00000106930
AA Change: C417Y
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102543 Gene: ENSMUSG00000028528 AA Change: C417Y
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: C485Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102546 Gene: ENSMUSG00000028528 AA Change: C485Y
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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
A |
T |
7: 133,531,725 (GRCm39) |
N503K |
probably damaging |
Het |
Anapc2 |
T |
A |
2: 25,167,750 (GRCm39) |
I439N |
probably damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,819,352 (GRCm39) |
N520S |
probably benign |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Clec1b |
G |
A |
6: 129,378,774 (GRCm39) |
R87H |
probably benign |
Het |
Cox7a2l |
A |
G |
17: 83,810,069 (GRCm39) |
I123T |
probably benign |
Het |
Cyp2j5 |
A |
T |
4: 96,529,653 (GRCm39) |
Y239* |
probably null |
Het |
Dync1i1 |
C |
T |
6: 5,961,842 (GRCm39) |
S341F |
probably damaging |
Het |
Fbln1 |
A |
G |
15: 85,111,317 (GRCm39) |
N157S |
probably benign |
Het |
Get1 |
T |
C |
16: 95,946,784 (GRCm39) |
|
probably null |
Het |
Gpatch2 |
A |
G |
1: 186,958,337 (GRCm39) |
S231G |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,713,433 (GRCm39) |
D816G |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,509,941 (GRCm39) |
F1261Y |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,842,458 (GRCm39) |
E790G |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Or4c3 |
T |
C |
2: 89,851,567 (GRCm39) |
N281S |
probably damaging |
Het |
Or52k2 |
A |
T |
7: 102,254,500 (GRCm39) |
D313V |
possibly damaging |
Het |
Pibf1 |
A |
G |
14: 99,416,777 (GRCm39) |
E450G |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Pkdrej |
A |
T |
15: 85,701,693 (GRCm39) |
N1414K |
probably benign |
Het |
Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Slc28a3 |
T |
C |
13: 58,758,570 (GRCm39) |
S18G |
probably benign |
Het |
Slc7a1 |
C |
A |
5: 148,282,622 (GRCm39) |
C75F |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,079,486 (GRCm39) |
D1865G |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,769,344 (GRCm39) |
I378N |
probably damaging |
Het |
Trim3 |
A |
G |
7: 105,267,452 (GRCm39) |
V309A |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Zdhhc11 |
T |
C |
13: 74,125,390 (GRCm39) |
L210P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGAACCCCAGCATCCTC -3'
(R):5'- TGGAAAGACGTCAAGATGCC -3'
Sequencing Primer
(F):5'- CAGGAGCATCAGGACACTCTG -3'
(R):5'- AGACGTCAAGATGCCAATTTG -3'
|
Posted On |
2015-04-30 |