Incidental Mutation 'R7612:Dnajc6'
| ID |
588656 |
| 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 |
045680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101455123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 105
(S105T)
|
| 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 benign
Transcript: ENSMUST00000038207
AA Change: S75T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: S75T
| 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: S37T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: S37T
| 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: S37T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: S37T
| 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: S37T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: S37T
| 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: S105T
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: S105T
| 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
AA Change: S37T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119542
Gene: ENSMUSG00000028528
AA Change: S37T
| 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
AA Change: S37T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114840
Gene: ENSMUSG00000028528
AA Change: S37T
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3N0A|A
|
30 |
116 |
4e-54 |
PDB |
|
SCOP:d1d5ra2
|
50 |
101 |
1e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0886 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
T |
16: 88,570,496 (GRCm39) |
Y181* |
probably null |
Het |
| Adgrf2 |
T |
G |
17: 43,025,271 (GRCm39) |
K71T |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,076 (GRCm39) |
M1280K |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,224,405 (GRCm39) |
S541P |
possibly damaging |
Het |
| Cd19 |
G |
T |
7: 126,013,496 (GRCm39) |
Q98K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,493,341 (GRCm39) |
I788N |
possibly damaging |
Het |
| Cpne2 |
A |
T |
8: 95,284,048 (GRCm39) |
I290L |
probably benign |
Het |
| Cpsf1 |
C |
T |
15: 76,481,209 (GRCm39) |
V1216I |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,357 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
A |
2: 104,560,853 (GRCm39) |
Q47L |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,047 (GRCm39) |
P838Q |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,999,647 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Egfr |
A |
T |
11: 16,809,025 (GRCm39) |
N73I |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,657 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
A |
G |
3: 151,923,652 (GRCm39) |
Q123R |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,311,693 (GRCm39) |
I439T |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,079,506 (GRCm39) |
S261R |
possibly damaging |
Het |
| Gsdmd |
T |
G |
15: 75,736,803 (GRCm39) |
L140R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,478 (GRCm39) |
V201A |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,135,361 (GRCm39) |
M371K |
probably benign |
Het |
| Kalrn |
G |
A |
16: 34,134,582 (GRCm39) |
T412I |
possibly damaging |
Het |
| Kdm5b |
C |
T |
1: 134,552,656 (GRCm39) |
Q1211* |
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,517,671 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,781 (GRCm39) |
M376V |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,469,745 (GRCm39) |
T100A |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 113,013,168 (GRCm39) |
T812S |
possibly damaging |
Het |
| Nanp |
T |
A |
2: 150,881,158 (GRCm39) |
E30V |
probably null |
Het |
| Or2w1b |
G |
T |
13: 21,300,217 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c107 |
T |
G |
2: 88,788,849 (GRCm39) |
L13R |
probably damaging |
Het |
| Or5ac21 |
A |
T |
16: 59,123,990 (GRCm39) |
H158L |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,393 (GRCm39) |
N241I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,175,610 (GRCm39) |
N1924D |
probably benign |
Het |
| Pou1f1 |
A |
G |
16: 65,326,811 (GRCm39) |
N137S |
probably damaging |
Het |
| Ptgdr |
A |
G |
14: 45,096,094 (GRCm39) |
M206T |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,004,696 (GRCm39) |
T20A |
probably benign |
Het |
| Rexo1 |
G |
C |
10: 80,385,497 (GRCm39) |
S520R |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,727,005 (GRCm39) |
S94T |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,576,785 (GRCm39) |
V182A |
probably benign |
Het |
| Slfn2 |
A |
G |
11: 82,961,089 (GRCm39) |
E356G |
probably damaging |
Het |
| Spry4 |
C |
A |
18: 38,722,982 (GRCm39) |
K260N |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,187,375 (GRCm39) |
M136L |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,120,638 (GRCm39) |
V425A |
probably benign |
Het |
| Trim21 |
T |
A |
7: 102,208,742 (GRCm39) |
M326L |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,790,677 (GRCm39) |
Q158R |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,580,964 (GRCm39) |
K663M |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,316 (GRCm39) |
I1094V |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,594,798 (GRCm39) |
S245P |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,351,838 (GRCm39) |
D34V |
probably null |
Het |
| Zbtb45 |
C |
T |
7: 12,741,326 (GRCm39) |
A311T |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,173,999 (GRCm39) |
S135P |
unknown |
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 |
|
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'- GCCTGTTGAACATGACATGC -3'
(R):5'- ACCCACAGGCTGTACTTGTAG -3'
Sequencing Primer
(F):5'- ACATGCATGTTGTGGGATTAAGAG -3'
(R):5'- GCTGTACTTGTAGCCTCAAAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation