Incidental Mutation 'R7226:Dnajc6'
ID |
562144 |
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 |
045298-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R7226 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
101353828-101499996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101496569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 912
(A912E)
|
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: A882E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044251 Gene: ENSMUSG00000028528 AA Change: A882E
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: A844E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092560 Gene: ENSMUSG00000028528 AA Change: A844E
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: A844E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102542 Gene: ENSMUSG00000028528 AA Change: A844E
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: A844E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102543 Gene: ENSMUSG00000028528 AA Change: A844E
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: A912E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102546 Gene: ENSMUSG00000028528 AA Change: A912E
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025B11Rik |
C |
T |
15: 77,443,189 (GRCm39) |
V17I |
unknown |
Het |
Acad8 |
T |
A |
9: 26,889,726 (GRCm39) |
K323* |
probably null |
Het |
Adam18 |
A |
T |
8: 25,137,824 (GRCm39) |
C339S |
probably damaging |
Het |
Anxa7 |
A |
G |
14: 20,510,263 (GRCm39) |
F396L |
probably damaging |
Het |
Ap2m1 |
T |
A |
16: 20,358,201 (GRCm39) |
V73D |
probably damaging |
Het |
Asic2 |
A |
T |
11: 80,862,340 (GRCm39) |
I270N |
probably damaging |
Het |
Atrn |
T |
G |
2: 130,828,664 (GRCm39) |
C1070G |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,361,921 (GRCm39) |
N517S |
unknown |
Het |
Bhmt1b |
A |
G |
18: 87,775,590 (GRCm39) |
D371G |
possibly damaging |
Het |
Bltp3b |
A |
T |
10: 89,644,503 (GRCm39) |
Q1181L |
probably benign |
Het |
Cavin1 |
A |
C |
11: 100,861,284 (GRCm39) |
D3E |
probably benign |
Het |
Cc2d2b |
T |
C |
19: 40,779,751 (GRCm39) |
L571P |
unknown |
Het |
Ccbe1 |
A |
T |
18: 66,216,199 (GRCm39) |
C175S |
probably damaging |
Het |
Cd19 |
A |
G |
7: 126,013,995 (GRCm39) |
L5P |
unknown |
Het |
Cd46 |
A |
G |
1: 194,724,314 (GRCm39) |
S362P |
possibly damaging |
Het |
Celf5 |
A |
G |
10: 81,303,863 (GRCm39) |
S198P |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,704,359 (GRCm39) |
R706G |
possibly damaging |
Het |
Chd3 |
G |
T |
11: 69,260,037 (GRCm39) |
R61S |
unknown |
Het |
Cpsf6 |
A |
C |
10: 117,197,727 (GRCm39) |
W253G |
unknown |
Het |
Cyp27a1 |
G |
A |
1: 74,776,507 (GRCm39) |
G481D |
probably damaging |
Het |
Ddr1 |
C |
T |
17: 36,002,039 (GRCm39) |
D218N |
possibly damaging |
Het |
Dhx34 |
A |
T |
7: 15,932,801 (GRCm39) |
V1046D |
probably damaging |
Het |
Dhx9 |
A |
T |
1: 153,341,423 (GRCm39) |
D608E |
probably benign |
Het |
Ehmt1 |
T |
C |
2: 24,694,794 (GRCm39) |
D1051G |
probably damaging |
Het |
Fam217b |
C |
A |
2: 178,062,996 (GRCm39) |
A320E |
probably benign |
Het |
Farsa |
T |
A |
8: 85,590,689 (GRCm39) |
I169N |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,170,142 (GRCm39) |
C2210R |
probably damaging |
Het |
Fbxo3 |
T |
A |
2: 103,880,642 (GRCm39) |
S251T |
probably benign |
Het |
Fer1l6 |
C |
T |
15: 58,462,384 (GRCm39) |
T813I |
probably benign |
Het |
Ftl1-ps1 |
A |
T |
13: 74,555,114 (GRCm39) |
E131V |
probably damaging |
Het |
Gins3 |
T |
A |
8: 96,364,499 (GRCm39) |
I83N |
probably damaging |
Het |
Gja3 |
T |
C |
14: 57,273,350 (GRCm39) |
T341A |
probably benign |
Het |
Gja5 |
A |
G |
3: 96,958,174 (GRCm39) |
Y77C |
probably damaging |
Het |
Gm7247 |
A |
G |
14: 51,602,808 (GRCm39) |
K48R |
probably damaging |
Het |
Gsx2 |
C |
A |
5: 75,236,621 (GRCm39) |
S67* |
probably null |
Het |
H2-Q5 |
T |
A |
17: 35,616,089 (GRCm39) |
L217Q |
|
Het |
Impg2 |
T |
A |
16: 56,087,467 (GRCm39) |
C1095* |
probably null |
Het |
Itga7 |
G |
T |
10: 128,776,801 (GRCm39) |
W222L |
probably damaging |
Het |
Kdm2b |
T |
A |
5: 123,059,512 (GRCm39) |
D530V |
possibly damaging |
Het |
Klhdc8a |
A |
T |
1: 132,230,344 (GRCm39) |
D153V |
probably damaging |
Het |
Lin28a |
C |
T |
4: 133,733,619 (GRCm39) |
G143S |
probably damaging |
Het |
Memo1 |
A |
G |
17: 74,509,338 (GRCm39) |
L227S |
probably damaging |
Het |
Mettl27 |
T |
A |
5: 134,964,657 (GRCm39) |
V138E |
probably damaging |
Het |
Mov10 |
G |
T |
3: 104,708,328 (GRCm39) |
L474I |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,557,098 (GRCm39) |
N852S |
probably benign |
Het |
Nfkbie |
T |
C |
17: 45,870,153 (GRCm39) |
V166A |
possibly damaging |
Het |
Nktr |
T |
C |
9: 121,575,599 (GRCm39) |
M369T |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,258,149 (GRCm39) |
N589I |
probably benign |
Het |
Nrn1 |
G |
A |
13: 36,914,577 (GRCm39) |
R8C |
probably benign |
Het |
Nrsn1 |
A |
G |
13: 25,437,451 (GRCm39) |
I159T |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,503 (GRCm39) |
S217P |
possibly damaging |
Het |
Or2h15 |
C |
T |
17: 38,441,324 (GRCm39) |
G253D |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,164 (GRCm39) |
D305E |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,406,584 (GRCm39) |
G20D |
probably benign |
Het |
Osbp |
T |
A |
19: 11,956,031 (GRCm39) |
D385E |
probably benign |
Het |
Pan3 |
T |
A |
5: 147,463,802 (GRCm39) |
N547K |
probably damaging |
Het |
Pip4p2 |
T |
A |
4: 14,892,464 (GRCm39) |
D109E |
probably damaging |
Het |
Pum1 |
C |
A |
4: 130,499,292 (GRCm39) |
T1036K |
probably damaging |
Het |
Rad54l2 |
C |
A |
9: 106,590,671 (GRCm39) |
R485L |
probably damaging |
Het |
Rps26 |
A |
T |
10: 128,461,087 (GRCm39) |
F101I |
unknown |
Het |
Sdsl |
T |
C |
5: 120,598,702 (GRCm39) |
N138S |
probably benign |
Het |
Slc28a2b |
C |
A |
2: 122,353,013 (GRCm39) |
R453S |
probably benign |
Het |
Slc39a6 |
A |
T |
18: 24,717,084 (GRCm39) |
H649Q |
probably damaging |
Het |
Snip1 |
T |
A |
4: 124,965,273 (GRCm39) |
F226Y |
probably benign |
Het |
Srrd |
T |
C |
5: 112,485,322 (GRCm39) |
T334A |
unknown |
Het |
St14 |
C |
T |
9: 31,011,448 (GRCm39) |
D448N |
possibly damaging |
Het |
Tmem270 |
T |
A |
5: 134,930,538 (GRCm39) |
Q241L |
probably benign |
Het |
Tubb4b |
T |
C |
2: 25,114,180 (GRCm39) |
D41G |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,040,368 (GRCm39) |
M1616T |
possibly damaging |
Het |
Vmn2r95 |
A |
T |
17: 18,672,245 (GRCm39) |
I733F |
possibly damaging |
Het |
Zfp976 |
A |
T |
7: 42,262,684 (GRCm39) |
C385* |
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 |
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 |
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'- AGTCCTGGTAGGCAGAAAGC -3'
(R):5'- CTGACAACCTCATGCCTTGTG -3'
Sequencing Primer
(F):5'- CAGAAAGCATTTGAGGGTCTTAACC -3'
(R):5'- GTAACCCACAGAGTAAGTTTTGTC -3'
|
Posted On |
2019-06-26 |