Incidental Mutation 'R2032:Dnajc6'
ID |
221333 |
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 |
040039-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R2032 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 101471435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 284
(I284S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
[ENSMUST00000149047]
|
AlphaFold |
Q80TZ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038207
AA Change: I322S
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000044251 Gene: ENSMUSG00000028528 AA Change: I322S
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
AA Change: I284S
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000092560 Gene: ENSMUSG00000028528 AA Change: I284S
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
AA Change: I284S
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102542 Gene: ENSMUSG00000028528 AA Change: I284S
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
AA Change: I284S
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102543 Gene: ENSMUSG00000028528 AA Change: I284S
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: I352S
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102546 Gene: ENSMUSG00000028528 AA Change: I352S
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 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (54/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,585,056 (GRCm39) |
|
probably benign |
Het |
Abca7 |
C |
T |
10: 79,844,071 (GRCm39) |
T1359M |
probably damaging |
Het |
Acox2 |
A |
G |
14: 8,246,400 (GRCm38) |
S464P |
probably benign |
Het |
Adgrf1 |
C |
T |
17: 43,622,166 (GRCm39) |
T801I |
probably damaging |
Het |
Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
Akap12 |
C |
A |
10: 4,306,673 (GRCm39) |
A1161D |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,578,616 (GRCm39) |
V635D |
possibly damaging |
Het |
Ankrd44 |
C |
T |
1: 54,762,168 (GRCm39) |
|
probably null |
Het |
Atl2 |
A |
G |
17: 80,203,373 (GRCm39) |
V28A |
probably benign |
Het |
Atxn3 |
A |
T |
12: 101,908,453 (GRCm39) |
L133* |
probably null |
Het |
Bmp2 |
T |
C |
2: 133,403,216 (GRCm39) |
S256P |
probably benign |
Het |
Ccdc121rt3 |
G |
A |
5: 112,502,978 (GRCm39) |
T242I |
possibly damaging |
Het |
Ccdc138 |
T |
A |
10: 58,348,984 (GRCm39) |
Y177N |
possibly damaging |
Het |
Ccdc168 |
C |
A |
1: 44,100,900 (GRCm39) |
C66F |
possibly damaging |
Het |
Cdcp3 |
G |
A |
7: 130,844,781 (GRCm39) |
G674E |
probably damaging |
Het |
Cep164 |
C |
T |
9: 45,682,898 (GRCm39) |
V931M |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,660,993 (GRCm39) |
|
probably benign |
Het |
CK137956 |
T |
C |
4: 127,839,069 (GRCm39) |
T450A |
probably benign |
Het |
Col23a1 |
G |
A |
11: 51,450,835 (GRCm39) |
G215D |
unknown |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dennd6a |
T |
C |
14: 26,325,904 (GRCm39) |
M5T |
probably benign |
Het |
Dolpp1 |
C |
T |
2: 30,282,453 (GRCm39) |
A2V |
probably damaging |
Het |
Eml2 |
C |
T |
7: 18,936,480 (GRCm39) |
T711I |
probably benign |
Het |
Evi5l |
T |
C |
8: 4,260,622 (GRCm39) |
D1065G |
probably damaging |
Het |
Fam110b |
G |
T |
4: 5,799,460 (GRCm39) |
A293S |
probably benign |
Het |
Fap |
A |
G |
2: 62,372,581 (GRCm39) |
V266A |
probably benign |
Het |
Fgf10 |
A |
T |
13: 118,852,131 (GRCm39) |
Y71F |
probably damaging |
Het |
Gm3443 |
G |
T |
19: 21,533,164 (GRCm39) |
G43C |
probably damaging |
Het |
Gpr146 |
T |
C |
5: 139,364,902 (GRCm39) |
|
probably benign |
Het |
Hif3a |
A |
T |
7: 16,785,104 (GRCm39) |
L172H |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,061,457 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
G |
A |
7: 23,120,937 (GRCm39) |
R717Q |
probably damaging |
Het |
Nop14 |
A |
G |
5: 34,817,283 (GRCm39) |
V36A |
possibly damaging |
Het |
Or10v5 |
C |
T |
19: 11,805,664 (GRCm39) |
C242Y |
probably damaging |
Het |
Or51a39 |
A |
T |
7: 102,363,083 (GRCm39) |
I179N |
probably benign |
Het |
Or7a41 |
T |
A |
10: 78,871,163 (GRCm39) |
F178I |
possibly damaging |
Het |
Parp4 |
T |
A |
14: 56,866,553 (GRCm39) |
I1039K |
possibly damaging |
Het |
Pate12 |
T |
C |
9: 36,344,195 (GRCm39) |
|
probably null |
Het |
Pold2 |
A |
T |
11: 5,826,757 (GRCm39) |
I59N |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,264,304 (GRCm39) |
|
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,716,088 (GRCm39) |
|
probably benign |
Het |
Recql |
C |
T |
6: 142,313,009 (GRCm39) |
G403R |
probably damaging |
Het |
Serpina3m |
T |
A |
12: 104,355,928 (GRCm39) |
D198E |
probably benign |
Het |
Sik2 |
A |
T |
9: 50,906,947 (GRCm39) |
Y93N |
probably damaging |
Het |
Slc27a3 |
C |
T |
3: 90,294,704 (GRCm39) |
R389H |
probably damaging |
Het |
Slc29a1 |
A |
T |
17: 45,897,035 (GRCm39) |
M417K |
probably damaging |
Het |
Syt13 |
A |
G |
2: 92,783,746 (GRCm39) |
K339E |
probably damaging |
Het |
Tmem237 |
A |
T |
1: 59,148,265 (GRCm39) |
H163Q |
probably benign |
Het |
Tram2 |
C |
T |
1: 21,074,180 (GRCm39) |
G253R |
probably null |
Het |
Trpv1 |
A |
G |
11: 73,129,211 (GRCm39) |
T43A |
probably benign |
Het |
Ugt2b34 |
A |
G |
5: 87,039,131 (GRCm39) |
I510T |
probably damaging |
Het |
Vmn1r224 |
C |
A |
17: 20,639,658 (GRCm39) |
D78E |
probably benign |
Het |
Vmn1r78 |
A |
T |
7: 11,887,210 (GRCm39) |
I274L |
probably benign |
Het |
Wdfy4 |
C |
T |
14: 32,868,946 (GRCm39) |
V361I |
probably benign |
Het |
Zpbp2 |
A |
T |
11: 98,445,534 (GRCm39) |
K165N |
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 |
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 |
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'- GTCCATACCGGCATCATTCC -3'
(R):5'- TGGACATCAACAAGCCATCAGG -3'
Sequencing Primer
(F):5'- AGGAAGGAGCTTCTATGTCTAAGTC -3'
(R):5'- AGGCTCTTTCTCACTCCAAAC -3'
|
Posted On |
2014-08-25 |