Incidental Mutation 'R8305:Dnajc6'
| ID |
640988 |
| 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 |
067716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101480984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 675
(T675I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038207]
[ENSMUST00000094953]
[ENSMUST00000106929]
[ENSMUST00000106930]
[ENSMUST00000106933]
|
| AlphaFold |
Q80TZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038207
AA Change: T645I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: T645I
| 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: T607I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: T607I
| 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: T607I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: T607I
| 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: T607I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: T607I
| 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: T675I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: T675I
| 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 |
0.1402 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (65/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,208,844 (GRCm39) |
E243K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,696,423 (GRCm39) |
H58Q |
probably benign |
Het |
| Actl7a |
T |
A |
4: 56,743,744 (GRCm39) |
F90L |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,300,719 (GRCm39) |
A270V |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,919,548 (GRCm39) |
T103A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,780,219 (GRCm39) |
L1757P |
possibly damaging |
Het |
| Apoa4 |
T |
A |
9: 46,152,453 (GRCm39) |
M1K |
probably null |
Het |
| Arih1 |
T |
A |
9: 59,303,770 (GRCm39) |
Q445L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,634,054 (GRCm39) |
I420L |
probably benign |
Het |
| Bbs2 |
A |
C |
8: 94,800,953 (GRCm39) |
V626G |
probably damaging |
Het |
| Cep290 |
C |
A |
10: 100,380,796 (GRCm39) |
A1678D |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,464,927 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
T |
A |
3: 144,531,698 (GRCm39) |
N702I |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,179,937 (GRCm39) |
V1143A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,388,863 (GRCm39) |
T223A |
probably benign |
Het |
| Defa30 |
A |
T |
8: 21,625,475 (GRCm39) |
T80S |
probably benign |
Het |
| Dennd1a |
G |
A |
2: 37,748,093 (GRCm39) |
L375F |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,822,556 (GRCm39) |
V4A |
probably damaging |
Het |
| Enpp3 |
C |
G |
10: 24,700,827 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 59,952,782 (GRCm39) |
T154A |
probably benign |
Het |
| Filip1 |
G |
T |
9: 79,727,757 (GRCm39) |
Y287* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,284,864 (GRCm39) |
D751G |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,918,226 (GRCm39) |
Q572L |
probably benign |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Gm39115 |
A |
G |
7: 141,689,360 (GRCm39) |
C138R |
unknown |
Het |
| Gm7356 |
T |
A |
17: 14,221,699 (GRCm39) |
Y110F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,952,747 (GRCm39) |
K233R |
probably benign |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,206 (GRCm39) |
E103D |
probably benign |
Het |
| Igsf11 |
C |
A |
16: 38,827,586 (GRCm39) |
T48N |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,913,944 (GRCm39) |
Y506N |
probably damaging |
Het |
| Kat2a |
A |
C |
11: 100,600,304 (GRCm39) |
M357R |
possibly damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,132 (GRCm39) |
R233G |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,726,197 (GRCm39) |
C563* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,018 (GRCm39) |
V456A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,825 (GRCm39) |
V45A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,289,414 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
T |
A |
1: 127,745,007 (GRCm39) |
E1177D |
|
Het |
| Mdn1 |
G |
T |
4: 32,725,107 (GRCm39) |
L2575F |
probably benign |
Het |
| Mga |
T |
A |
2: 119,776,800 (GRCm39) |
M1569K |
possibly damaging |
Het |
| Mvk |
T |
C |
5: 114,588,840 (GRCm39) |
Y161H |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,389 (GRCm39) |
M276K |
probably benign |
Het |
| Or14c44 |
G |
T |
7: 86,061,987 (GRCm39) |
C139F |
probably damaging |
Het |
| Or2n1 |
C |
A |
17: 38,486,464 (GRCm39) |
T163K |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,583,075 (GRCm39) |
V727E |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,821,707 (GRCm39) |
V167G |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,221 (GRCm39) |
D146G |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,188,000 (GRCm39) |
G879R |
possibly damaging |
Het |
| Prss58 |
C |
T |
6: 40,872,594 (GRCm39) |
A171T |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,499,231 (GRCm39) |
I1016V |
probably benign |
Het |
| Rbm43 |
A |
G |
2: 51,816,712 (GRCm39) |
V85A |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,712,864 (GRCm39) |
D287E |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,702,812 (GRCm39) |
L393Q |
probably damaging |
Het |
| Sbf2 |
T |
G |
7: 109,970,825 (GRCm39) |
H857P |
possibly damaging |
Het |
| Scn8a |
A |
C |
15: 100,938,387 (GRCm39) |
T1919P |
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,434,084 (GRCm39) |
G377E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,975,603 (GRCm39) |
D436E |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,380,901 (GRCm39) |
I535F |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,779,158 (GRCm39) |
S281T |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,083,999 (GRCm39) |
I392M |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,660 (GRCm39) |
V201A |
possibly damaging |
Het |
| Timm10b |
T |
C |
7: 105,289,876 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
A |
C |
7: 67,312,135 (GRCm39) |
D14A |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,923,011 (GRCm39) |
L636I |
possibly damaging |
Het |
| Vgll4 |
G |
T |
6: 114,867,613 (GRCm39) |
H79Q |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,858 (GRCm39) |
I3047T |
|
Het |
| Zan |
T |
C |
5: 137,448,813 (GRCm39) |
E1680G |
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 |
|
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 |
|
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'- CAGGAGGCAAGTATCATCCTC -3'
(R):5'- GTGTTTGCCTTATACGTGGAAC -3'
Sequencing Primer
(F):5'- GGAGGCAAGTATCATCCTCATATTTC -3'
(R):5'- TGGAACACATTTCAAATCAGACTAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation