Incidental Mutation 'IGL03107:Dnajc6'
ID |
419019 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.091)
|
Stock # |
IGL03107
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 101474057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 486
(W486L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
|
AlphaFold |
Q80TZ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038207
AA Change: W456L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000044251 Gene: ENSMUSG00000028528 AA Change: W456L
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: W418L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000092560 Gene: ENSMUSG00000028528 AA Change: W418L
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: W418L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102542 Gene: ENSMUSG00000028528 AA Change: W418L
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: W418L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102543 Gene: ENSMUSG00000028528 AA Change: W418L
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: W486L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102546 Gene: ENSMUSG00000028528 AA Change: W486L
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
C |
16: 19,702,518 (GRCm39) |
|
noncoding transcript |
Het |
Angpt4 |
A |
G |
2: 151,785,342 (GRCm39) |
M453V |
probably benign |
Het |
Atr |
T |
A |
9: 95,779,783 (GRCm39) |
D1380E |
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,278,438 (GRCm39) |
M177K |
probably damaging |
Het |
Cenpk |
T |
A |
13: 104,379,280 (GRCm39) |
I203N |
probably damaging |
Het |
Cerk |
A |
T |
15: 86,027,014 (GRCm39) |
N165K |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,242,869 (GRCm39) |
|
probably benign |
Het |
Crb2 |
A |
T |
2: 37,681,428 (GRCm39) |
D757V |
probably benign |
Het |
Csnk1a1 |
A |
G |
18: 61,701,376 (GRCm39) |
D91G |
probably damaging |
Het |
Elmod1 |
C |
T |
9: 53,841,507 (GRCm39) |
|
probably benign |
Het |
Ercc3 |
G |
T |
18: 32,381,360 (GRCm39) |
R392L |
possibly damaging |
Het |
Fam135b |
C |
T |
15: 71,335,410 (GRCm39) |
V595I |
probably benign |
Het |
Fem1al |
T |
A |
11: 29,774,360 (GRCm39) |
I366F |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,775,059 (GRCm39) |
S256T |
probably damaging |
Het |
Fstl5 |
G |
T |
3: 76,443,618 (GRCm39) |
C321F |
probably damaging |
Het |
Gpatch1 |
T |
G |
7: 35,002,742 (GRCm39) |
N256T |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,581 (GRCm39) |
S425R |
probably damaging |
Het |
Igkv4-57-1 |
T |
G |
6: 69,521,574 (GRCm39) |
M43L |
probably benign |
Het |
Itgae |
A |
G |
11: 73,004,427 (GRCm39) |
Q238R |
probably damaging |
Het |
Lats1 |
T |
A |
10: 7,588,510 (GRCm39) |
D1042E |
probably benign |
Het |
Lcn8 |
G |
A |
2: 25,545,377 (GRCm39) |
G156D |
probably damaging |
Het |
Loxl4 |
A |
C |
19: 42,593,718 (GRCm39) |
V224G |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,285,177 (GRCm39) |
D3827V |
probably damaging |
Het |
Neb |
C |
A |
2: 52,073,837 (GRCm39) |
R231S |
probably benign |
Het |
Or2g1 |
G |
A |
17: 38,106,679 (GRCm39) |
V115I |
probably benign |
Het |
Or5b105 |
A |
T |
19: 13,080,401 (GRCm39) |
M89K |
probably benign |
Het |
Or6c211 |
A |
G |
10: 129,505,809 (GRCm39) |
M193T |
probably benign |
Het |
Or6d13 |
T |
G |
6: 116,517,900 (GRCm39) |
M162R |
possibly damaging |
Het |
Or8g54 |
T |
G |
9: 39,707,475 (GRCm39) |
M268R |
probably benign |
Het |
Pappa |
T |
G |
4: 65,122,940 (GRCm39) |
S758R |
probably damaging |
Het |
Pced1a |
G |
A |
2: 130,264,755 (GRCm39) |
T61I |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,250,594 (GRCm39) |
D731G |
probably damaging |
Het |
Plxnb1 |
G |
A |
9: 108,934,054 (GRCm39) |
D761N |
probably benign |
Het |
Pmp22 |
T |
C |
11: 63,049,135 (GRCm39) |
V126A |
probably benign |
Het |
Ppp6r2 |
G |
T |
15: 89,152,748 (GRCm39) |
R296S |
probably damaging |
Het |
Prkcq |
A |
C |
2: 11,265,597 (GRCm39) |
H438P |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 28,774,624 (GRCm39) |
Y2339F |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,765,686 (GRCm39) |
|
probably benign |
Het |
Scp2 |
T |
A |
4: 107,955,312 (GRCm39) |
I144F |
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,806,793 (GRCm39) |
|
probably null |
Het |
Sema5a |
T |
A |
15: 32,669,554 (GRCm39) |
Y693N |
probably damaging |
Het |
Sin3b |
T |
A |
8: 73,480,213 (GRCm39) |
I905K |
probably damaging |
Het |
Slc13a3 |
T |
A |
2: 165,279,227 (GRCm39) |
M195L |
probably benign |
Het |
Strada |
A |
G |
11: 106,054,863 (GRCm39) |
|
probably benign |
Het |
Stx18 |
G |
A |
5: 38,293,655 (GRCm39) |
V294M |
probably damaging |
Het |
Tbpl2 |
A |
T |
2: 23,983,845 (GRCm39) |
N197K |
probably benign |
Het |
Tdrd9 |
A |
T |
12: 112,009,274 (GRCm39) |
H1060L |
probably damaging |
Het |
Tm4sf5 |
G |
A |
11: 70,396,223 (GRCm39) |
V23M |
possibly damaging |
Het |
Tmem54 |
C |
A |
4: 129,004,705 (GRCm39) |
L187I |
probably damaging |
Het |
Tmprss5 |
A |
G |
9: 49,024,528 (GRCm39) |
H281R |
possibly damaging |
Het |
Trim30c |
A |
G |
7: 104,031,820 (GRCm39) |
Y332H |
possibly damaging |
Het |
Uba6 |
T |
A |
5: 86,275,633 (GRCm39) |
|
probably benign |
Het |
Unc80 |
C |
A |
1: 66,670,613 (GRCm39) |
P1912Q |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |