Incidental Mutation 'R7652:Dnajc6'
ID |
590899 |
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 |
045729-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R7652 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101463874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 209
(Q209L)
|
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 damaging
Transcript: ENSMUST00000038207
AA Change: Q179L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000044251 Gene: ENSMUSG00000028528 AA Change: Q179L
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 damaging
Transcript: ENSMUST00000094953
AA Change: Q141L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092560 Gene: ENSMUSG00000028528 AA Change: Q141L
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: ENSMUST00000106929
AA Change: Q141L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102542 Gene: ENSMUSG00000028528 AA Change: Q141L
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: ENSMUST00000106930
AA Change: Q141L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102543 Gene: ENSMUSG00000028528 AA Change: Q141L
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: Q209L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102546 Gene: ENSMUSG00000028528 AA Change: Q209L
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 |
probably damaging
Transcript: ENSMUST00000149047
AA Change: Q141L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000119542 Gene: ENSMUSG00000028528 AA Change: Q141L
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (66/66) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
G |
4: 156,253,675 (GRCm39) |
|
probably null |
Het |
Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
Anxa2r2 |
A |
T |
13: 120,488,529 (GRCm39) |
S7T |
possibly damaging |
Het |
Aph1b |
T |
C |
9: 66,691,823 (GRCm39) |
T195A |
probably benign |
Het |
Apoe |
G |
T |
7: 19,430,535 (GRCm39) |
R236S |
possibly damaging |
Het |
Arap3 |
G |
T |
18: 38,111,505 (GRCm39) |
T1137K |
probably damaging |
Het |
Arhgap45 |
C |
T |
10: 79,864,672 (GRCm39) |
A908V |
probably benign |
Het |
Atp13a1 |
T |
C |
8: 70,258,209 (GRCm39) |
C965R |
probably damaging |
Het |
C7 |
A |
G |
15: 5,041,587 (GRCm39) |
Y440H |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
Ddah2 |
C |
A |
17: 35,280,026 (GRCm39) |
R173S |
possibly damaging |
Het |
Dnajc11 |
T |
C |
4: 152,058,682 (GRCm39) |
Y337H |
probably damaging |
Het |
Dnajc25 |
A |
G |
4: 59,020,483 (GRCm39) |
K302R |
probably benign |
Het |
Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
Ebf2 |
G |
T |
14: 67,628,016 (GRCm39) |
|
probably null |
Het |
Epx |
A |
G |
11: 87,766,160 (GRCm39) |
|
probably null |
Het |
Eqtn |
T |
C |
4: 94,816,574 (GRCm39) |
Y73C |
probably damaging |
Het |
Fam107b |
A |
G |
2: 3,773,884 (GRCm39) |
N21S |
probably benign |
Het |
Fasn |
G |
A |
11: 120,707,154 (GRCm39) |
S857F |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
Gas8 |
A |
G |
8: 124,253,275 (GRCm39) |
I208V |
probably benign |
Het |
Gm3269 |
T |
C |
14: 16,026,209 (GRCm39) |
I88T |
probably benign |
Het |
Gm8005 |
C |
A |
14: 42,258,919 (GRCm39) |
L136F |
|
Het |
Grid2ip |
C |
A |
5: 143,368,393 (GRCm39) |
P743Q |
probably damaging |
Het |
H2-T15 |
A |
T |
17: 36,367,675 (GRCm39) |
V221D |
probably damaging |
Het |
Hbs1l |
C |
T |
10: 21,240,659 (GRCm39) |
T626I |
probably benign |
Het |
Hdac3 |
T |
A |
18: 38,087,972 (GRCm39) |
|
probably benign |
Het |
Hnrnpab |
T |
C |
11: 51,496,400 (GRCm39) |
Y94C |
probably damaging |
Het |
Homer2 |
T |
C |
7: 81,299,414 (GRCm39) |
D17G |
probably damaging |
Het |
Ikbke |
C |
T |
1: 131,199,569 (GRCm39) |
R308Q |
probably damaging |
Het |
Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
Klhl3 |
G |
A |
13: 58,261,146 (GRCm39) |
|
probably benign |
Het |
Klk1b9 |
A |
T |
7: 43,445,514 (GRCm39) |
T235S |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,520,717 (GRCm39) |
T1798A |
probably benign |
Het |
Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,192,352 (GRCm39) |
|
probably benign |
Het |
Krtap4-6 |
T |
C |
11: 99,556,440 (GRCm39) |
I96V |
unknown |
Het |
Lef1 |
A |
C |
3: 130,994,003 (GRCm39) |
R354S |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,488,208 (GRCm39) |
L296* |
probably null |
Het |
Maml2 |
T |
C |
9: 13,532,945 (GRCm39) |
Y720H |
|
Het |
Mmrn1 |
A |
G |
6: 60,954,490 (GRCm39) |
N924D |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,474,156 (GRCm39) |
K1624E |
probably damaging |
Het |
Nos3 |
T |
A |
5: 24,588,610 (GRCm39) |
V1112D |
probably damaging |
Het |
Or2y14 |
T |
C |
11: 49,404,512 (GRCm39) |
F16L |
probably damaging |
Het |
Or4c111 |
C |
T |
2: 88,843,893 (GRCm39) |
V172I |
probably benign |
Het |
Or5an1b |
C |
A |
19: 12,299,651 (GRCm39) |
C180F |
probably damaging |
Het |
Or5w13 |
A |
G |
2: 87,523,704 (GRCm39) |
I174T |
probably damaging |
Het |
Or6c70 |
A |
T |
10: 129,710,346 (GRCm39) |
N93K |
probably damaging |
Het |
Phospho1 |
T |
C |
11: 95,721,645 (GRCm39) |
L105S |
probably damaging |
Het |
Prss35 |
T |
A |
9: 86,638,023 (GRCm39) |
N264K |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,677,578 (GRCm39) |
D732G |
probably benign |
Het |
Rab18 |
A |
T |
18: 6,783,123 (GRCm39) |
T64S |
possibly damaging |
Het |
Rft1 |
A |
G |
14: 30,399,773 (GRCm39) |
Q319R |
probably benign |
Het |
Rgs7 |
T |
A |
1: 174,921,396 (GRCm39) |
M220L |
probably benign |
Het |
Rnf13 |
A |
G |
3: 57,671,772 (GRCm39) |
N28S |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,078,548 (GRCm39) |
I311N |
probably damaging |
Het |
Setd5 |
G |
A |
6: 113,098,725 (GRCm39) |
R786H |
probably damaging |
Het |
Slc26a6 |
T |
C |
9: 108,733,143 (GRCm39) |
|
probably null |
Het |
Slc26a9 |
A |
T |
1: 131,691,634 (GRCm39) |
T626S |
probably benign |
Het |
Stambp |
A |
T |
6: 83,540,910 (GRCm39) |
|
probably null |
Het |
Stom |
A |
T |
2: 35,206,041 (GRCm39) |
N229K |
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,084,130 (GRCm39) |
L149* |
probably null |
Het |
Trpc3 |
C |
A |
3: 36,692,677 (GRCm39) |
V772F |
probably benign |
Het |
Ube3a |
A |
G |
7: 58,893,102 (GRCm39) |
|
probably benign |
Het |
Ugt2b35 |
T |
A |
5: 87,149,369 (GRCm39) |
F207I |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,746,884 (GRCm39) |
D360E |
possibly damaging |
Het |
Vmn2r96 |
T |
G |
17: 18,793,832 (GRCm39) |
S59A |
probably benign |
Het |
Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
Wnt3 |
A |
G |
11: 103,703,290 (GRCm39) |
T258A |
possibly damaging |
Het |
Zfp729b |
T |
C |
13: 67,739,371 (GRCm39) |
T965A |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
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 |
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'- CGGAGAGACGACAGGATACC -3'
(R):5'- TCTTTAGGGGATTAGGGAGGGAA -3'
Sequencing Primer
(F):5'- GAGAGACGACAGGATACCACTTC -3'
(R):5'- GGATTAGGGAGGGAAAGGCC -3'
|
Posted On |
2019-10-24 |