Incidental Mutation 'R1424:Dnajc6'
| ID |
161211 |
| 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 |
039480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R1424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101496544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 836
(T836A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
|
| AlphaFold |
Q80TZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038207
AA Change: T874A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: T874A
| 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 |
possibly damaging
Transcript: ENSMUST00000094953
AA Change: T836A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: T836A
| 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 |
possibly damaging
Transcript: ENSMUST00000106929
AA Change: T836A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: T836A
| 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 |
possibly damaging
Transcript: ENSMUST00000106930
AA Change: T836A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: T836A
| 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 |
possibly damaging
Transcript: ENSMUST00000106933
AA Change: T904A
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: T904A
| 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 |
|
| Meta Mutation Damage Score |
0.1041 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
97% (57/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
C |
A |
12: 72,939,669 (GRCm39) |
E415* |
probably null |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,742,385 (GRCm39) |
A408T |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,230,247 (GRCm38) |
H632L |
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,506,441 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
A |
T |
9: 21,209,500 (GRCm39) |
I392N |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,253,725 (GRCm39) |
|
probably benign |
Het |
| Cel |
C |
T |
2: 28,449,636 (GRCm39) |
A243T |
probably damaging |
Het |
| Depp1 |
A |
G |
6: 116,628,966 (GRCm39) |
N103S |
possibly damaging |
Het |
| Dgka |
A |
T |
10: 128,569,202 (GRCm39) |
S177T |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,790,392 (GRCm39) |
S1444G |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,293,649 (GRCm39) |
D176G |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,497,692 (GRCm39) |
I230T |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,518,309 (GRCm39) |
I328F |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,847,173 (GRCm39) |
L179S |
probably damaging |
Het |
| Fgb |
A |
T |
3: 82,954,070 (GRCm39) |
I56N |
probably damaging |
Het |
| Fmo1 |
C |
T |
1: 162,657,635 (GRCm39) |
R502Q |
probably damaging |
Het |
| Fndc3a |
C |
T |
14: 72,811,811 (GRCm39) |
A340T |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,900,899 (GRCm39) |
Q1429K |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,534,959 (GRCm39) |
I75F |
possibly damaging |
Het |
| Gtpbp6 |
C |
T |
5: 110,252,155 (GRCm39) |
|
probably null |
Het |
| Gtsf1 |
A |
T |
15: 103,318,070 (GRCm39) |
Y156* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,522,545 (GRCm39) |
T3452A |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,822 (GRCm39) |
V112E |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,653,048 (GRCm39) |
T256K |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,974,782 (GRCm39) |
V63M |
unknown |
Het |
| Matn3 |
G |
T |
12: 9,011,132 (GRCm39) |
A348S |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,121 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,190,594 (GRCm39) |
N175S |
probably damaging |
Het |
| Or11h4 |
A |
T |
14: 50,974,521 (GRCm39) |
F33I |
probably benign |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,415 (GRCm39) |
Q98* |
probably null |
Het |
| Or4k5 |
C |
A |
14: 50,385,922 (GRCm39) |
M136I |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,132 (GRCm39) |
N759K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,415,348 (GRCm39) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 36,906,890 (GRCm39) |
D2284N |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,533,823 (GRCm39) |
R147C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,382 (GRCm39) |
D824G |
probably benign |
Het |
| Rere |
C |
T |
4: 150,701,495 (GRCm39) |
R1292C |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,671,419 (GRCm39) |
L294* |
probably null |
Het |
| Sbf2 |
A |
T |
7: 109,914,233 (GRCm39) |
C1650S |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,147,621 (GRCm39) |
T1751I |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,787,899 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
A |
7: 143,606,109 (GRCm39) |
D97E |
probably damaging |
Het |
| Tab2 |
A |
C |
10: 7,795,812 (GRCm39) |
S149R |
possibly damaging |
Het |
| Taok1 |
G |
T |
11: 77,440,190 (GRCm39) |
R606S |
probably benign |
Het |
| Tas2r121 |
A |
G |
6: 132,677,645 (GRCm39) |
L109P |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,829,689 (GRCm39) |
M175V |
probably benign |
Het |
| Tmprss11b |
T |
C |
5: 86,812,832 (GRCm39) |
K155E |
probably benign |
Het |
| Tmtc2 |
G |
T |
10: 105,249,229 (GRCm39) |
T168N |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tsga10ip |
C |
T |
19: 5,440,942 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
A |
G |
6: 121,197,470 (GRCm39) |
N44S |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,558 (GRCm39) |
V590A |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,275,075 (GRCm39) |
|
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,229 (GRCm39) |
Y368* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTTTCCTAGCAACAGTAGCGG -3'
(R):5'- CCTGACAACCTCATGCCTTGTGAC -3'
Sequencing Primer
(F):5'- TTCCTAGCAACAGTAGCGGTAAAC -3'
(R):5'- GTAACCCACAGAGTAAGTTTTGTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation