Incidental Mutation 'R6460:Dnajc6'
ID |
517553 |
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 |
044595-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R6460 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101472795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 307
(I307M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
[ENSMUST00000149047]
|
AlphaFold |
Q80TZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038207
AA Change: I345M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044251 Gene: ENSMUSG00000028528 AA Change: I345M
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: I307M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092560 Gene: ENSMUSG00000028528 AA Change: I307M
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: I307M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102542 Gene: ENSMUSG00000028528 AA Change: I307M
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: I307M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102543 Gene: ENSMUSG00000028528 AA Change: I307M
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: I375M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102546 Gene: ENSMUSG00000028528 AA Change: I375M
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
T |
10: 79,844,862 (GRCm39) |
H1528L |
probably benign |
Het |
Ablim1 |
A |
G |
19: 57,068,271 (GRCm39) |
S263P |
possibly damaging |
Het |
Ahnak2 |
T |
C |
12: 112,750,610 (GRCm39) |
E104G |
probably null |
Het |
Apof |
T |
A |
10: 128,105,086 (GRCm39) |
M80K |
probably damaging |
Het |
Arfgef1 |
C |
T |
1: 10,283,285 (GRCm39) |
R208H |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,657,018 (GRCm39) |
|
probably null |
Het |
Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
Cabcoco1 |
T |
C |
10: 68,352,211 (GRCm39) |
K34E |
probably damaging |
Het |
Col4a4 |
C |
A |
1: 82,444,253 (GRCm39) |
G1338V |
unknown |
Het |
Coq9 |
T |
A |
8: 95,579,814 (GRCm39) |
D256E |
probably damaging |
Het |
Dnajc18 |
A |
T |
18: 35,833,963 (GRCm39) |
C41S |
probably benign |
Het |
Emg1 |
A |
G |
6: 124,688,870 (GRCm39) |
V46A |
probably damaging |
Het |
Eya3 |
A |
G |
4: 132,408,174 (GRCm39) |
S157G |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,027,910 (GRCm39) |
N274S |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,878,296 (GRCm39) |
V3395A |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,092,897 (GRCm39) |
|
probably null |
Het |
Gm4846 |
A |
G |
1: 166,325,082 (GRCm39) |
V3A |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,907,992 (GRCm39) |
|
probably null |
Het |
Herc3 |
T |
A |
6: 58,867,108 (GRCm39) |
I10N |
probably damaging |
Het |
Hhatl |
C |
T |
9: 121,618,588 (GRCm39) |
R138H |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,085,765 (GRCm39) |
H35Q |
probably benign |
Het |
Irgq |
T |
A |
7: 24,233,115 (GRCm39) |
S319T |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,894,449 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
T |
C |
10: 103,036,559 (GRCm39) |
I865V |
probably damaging |
Het |
Map2k1 |
A |
G |
9: 64,094,577 (GRCm39) |
L355P |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,551,812 (GRCm39) |
I4827T |
probably benign |
Het |
Myh1 |
T |
C |
11: 67,112,202 (GRCm39) |
V1752A |
probably benign |
Het |
Nfatc2ip |
A |
G |
7: 125,986,909 (GRCm39) |
V282A |
probably damaging |
Het |
Nrg1 |
T |
A |
8: 32,308,561 (GRCm39) |
E485V |
probably damaging |
Het |
Ofcc1 |
T |
C |
13: 40,441,455 (GRCm39) |
D2G |
probably damaging |
Het |
Or10d3 |
CAGAG |
CAG |
9: 39,462,088 (GRCm39) |
|
probably null |
Het |
Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
Pom121 |
T |
C |
5: 135,420,537 (GRCm39) |
K295E |
unknown |
Het |
Rb1 |
A |
C |
14: 73,515,894 (GRCm39) |
I294R |
probably benign |
Het |
Schip1 |
C |
A |
3: 68,402,227 (GRCm39) |
S101R |
probably benign |
Het |
Sec24c |
T |
A |
14: 20,740,868 (GRCm39) |
Y629N |
probably damaging |
Het |
Shkbp1 |
T |
A |
7: 27,049,963 (GRCm39) |
H305L |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,959,801 (GRCm39) |
I187T |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,135,838 (GRCm39) |
T256K |
probably damaging |
Het |
Stk32c |
T |
A |
7: 138,685,190 (GRCm39) |
N320I |
probably damaging |
Het |
Stxbp4 |
A |
T |
11: 90,497,811 (GRCm39) |
S163T |
probably benign |
Het |
Sycp1 |
T |
G |
3: 102,832,569 (GRCm39) |
Y199S |
probably damaging |
Het |
Tpk1 |
T |
C |
6: 43,445,961 (GRCm39) |
D159G |
probably benign |
Het |
Trav21-dv12 |
C |
T |
14: 54,114,191 (GRCm39) |
H104Y |
probably benign |
Het |
Trip4 |
A |
T |
9: 65,788,302 (GRCm39) |
Y48N |
probably damaging |
Het |
Trmt10b |
A |
G |
4: 45,314,322 (GRCm39) |
T255A |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,747,232 (GRCm39) |
Q4606* |
probably null |
Het |
Vcan |
T |
A |
13: 89,838,806 (GRCm39) |
K2246M |
possibly damaging |
Het |
Zfp438 |
C |
A |
18: 5,213,603 (GRCm39) |
G452C |
probably damaging |
Het |
Zfp54 |
T |
A |
17: 21,654,004 (GRCm39) |
I166N |
probably benign |
Het |
Zfp735 |
T |
C |
11: 73,602,478 (GRCm39) |
V474A |
probably benign |
Het |
Zfp831 |
G |
T |
2: 174,488,360 (GRCm39) |
G1012W |
possibly 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 |
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'- CCAAGCAGACTATGGAGGTG -3'
(R):5'- AGCCACAGTCAATAGCCTGC -3'
Sequencing Primer
(F):5'- CACTGATGAGTAAGGAAATGTCTTGC -3'
(R):5'- CAGCTCAGGACTCTGGAGAC -3'
|
Posted On |
2018-05-21 |