Incidental Mutation 'R6013:Dnajb12'
| ID |
479860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajb12
|
| Ensembl Gene |
ENSMUSG00000020109 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
| Synonyms |
mDj10 |
| MMRRC Submission |
044189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6013 (G1)
|
| Quality Score |
144.008 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
59715405-59735118 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 59730163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020309]
[ENSMUST00000020309]
[ENSMUST00000131810]
[ENSMUST00000142819]
[ENSMUST00000142819]
[ENSMUST00000146590]
[ENSMUST00000146590]
[ENSMUST00000147914]
|
| AlphaFold |
Q9QYI4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020309
|
| SMART Domains |
Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
DnaJ
|
110 |
167 |
3.18e-30 |
SMART |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
Pfam:DUF1977
|
262 |
370 |
2.8e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020309
|
| SMART Domains |
Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
DnaJ
|
110 |
167 |
3.18e-30 |
SMART |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
Pfam:DUF1977
|
262 |
370 |
2.8e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131810
|
| SMART Domains |
Protein: ENSMUSP00000116244
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a17__
|
2 |
40 |
4e-3 |
SMART |
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142819
|
| SMART Domains |
Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
DnaJ
|
110 |
167 |
3.18e-30 |
SMART |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
Pfam:DUF1977
|
262 |
370 |
2.8e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142819
|
| SMART Domains |
Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
DnaJ
|
110 |
167 |
3.18e-30 |
SMART |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
Pfam:DUF1977
|
262 |
370 |
2.8e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146590
|
| SMART Domains |
Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
DnaJ
|
110 |
167 |
3.18e-30 |
SMART |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
Pfam:DUF1977
|
262 |
370 |
2.8e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146590
|
| SMART Domains |
Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
DnaJ
|
110 |
167 |
3.18e-30 |
SMART |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
Pfam:DUF1977
|
262 |
370 |
2.8e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147914
|
| SMART Domains |
Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
DnaJ
|
110 |
167 |
3.18e-30 |
SMART |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
Pfam:DUF1977
|
263 |
369 |
9.2e-31 |
PFAM |
|
| Meta Mutation Damage Score |
0.9595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJB12 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
T |
3: 6,682,310 (GRCm39) |
|
probably null |
Het |
| Aanat |
A |
T |
11: 116,486,950 (GRCm39) |
|
probably null |
Het |
| Abca17 |
A |
T |
17: 24,506,820 (GRCm39) |
V1178E |
possibly damaging |
Het |
| Abcf3 |
T |
A |
16: 20,369,311 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,207,732 (GRCm39) |
M1001T |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,391,818 (GRCm39) |
S1445Y |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,447,538 (GRCm39) |
I760T |
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,768,572 (GRCm39) |
|
probably benign |
Het |
| Car10 |
A |
T |
11: 93,076,105 (GRCm39) |
|
probably benign |
Het |
| Casq2 |
G |
T |
3: 102,052,945 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,809,403 (GRCm39) |
V928I |
possibly damaging |
Het |
| Clec4f |
T |
C |
6: 83,632,070 (GRCm39) |
I55V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 96,010,949 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,972,098 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
A |
C |
19: 39,501,969 (GRCm39) |
R119S |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,765,652 (GRCm39) |
A345V |
probably null |
Het |
| Ddx43 |
T |
C |
9: 78,321,567 (GRCm39) |
L412S |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,347,691 (GRCm39) |
S56P |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,875,849 (GRCm39) |
F496S |
probably damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,083,786 (GRCm39) |
S361P |
possibly damaging |
Het |
| H2-T23 |
G |
T |
17: 36,341,474 (GRCm39) |
H332Q |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,145,859 (GRCm39) |
V45A |
probably benign |
Het |
| Ift57 |
G |
T |
16: 49,519,667 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
A |
G |
1: 40,391,017 (GRCm39) |
H320R |
possibly damaging |
Het |
| Kansl1 |
A |
G |
11: 104,241,465 (GRCm39) |
V618A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,728,665 (GRCm39) |
E157G |
probably benign |
Het |
| Magohb |
T |
A |
6: 131,270,037 (GRCm39) |
D31V |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,715,713 (GRCm39) |
F1993L |
probably damaging |
Het |
| Med29 |
C |
A |
7: 28,086,418 (GRCm39) |
C130F |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,034,570 (GRCm39) |
R251C |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,211,903 (GRCm39) |
I49V |
probably benign |
Het |
| Nfkb1 |
G |
T |
3: 135,332,445 (GRCm39) |
T109K |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,819,452 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
A |
1: 135,811,648 (GRCm39) |
T408S |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,510 (GRCm39) |
D501E |
possibly damaging |
Het |
| Prcp |
A |
C |
7: 92,576,976 (GRCm39) |
Y335S |
possibly damaging |
Het |
| Reg2 |
T |
A |
6: 78,384,952 (GRCm39) |
Y165N |
possibly damaging |
Het |
| Rnf7 |
T |
C |
9: 96,353,787 (GRCm39) |
*114W |
probably null |
Het |
| Scg3 |
T |
C |
9: 75,584,090 (GRCm39) |
D137G |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,377,919 (GRCm39) |
V204A |
probably benign |
Het |
| Sez6 |
C |
T |
11: 77,864,623 (GRCm39) |
H528Y |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,039,457 (GRCm39) |
S723T |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,963,533 (GRCm39) |
D594G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,063,904 (GRCm39) |
L2174P |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,181 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
T |
14: 51,098,505 (GRCm39) |
F429I |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,580,228 (GRCm39) |
I1409F |
probably benign |
Het |
| Usp25 |
G |
A |
16: 76,873,909 (GRCm39) |
G495E |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,231,114 (GRCm39) |
S844G |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,341,287 (GRCm39) |
H1176L |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,918,129 (GRCm39) |
N96D |
probably damaging |
Het |
| Zfand6 |
C |
A |
7: 84,281,900 (GRCm39) |
V110L |
probably benign |
Het |
| Zfp30 |
A |
G |
7: 29,488,846 (GRCm39) |
R8G |
possibly damaging |
Het |
|
| Other mutations in Dnajb12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02616:Dnajb12
|
APN |
10 |
59,728,685 (GRCm39) |
splice site |
probably null |
|
|
IGL03412:Dnajb12
|
APN |
10 |
59,725,895 (GRCm39) |
missense |
probably benign |
0.44 |
|
PIT4382001:Dnajb12
|
UTSW |
10 |
59,728,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Dnajb12
|
UTSW |
10 |
59,715,623 (GRCm39) |
nonsense |
probably null |
|
|
R1692:Dnajb12
|
UTSW |
10 |
59,732,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Dnajb12
|
UTSW |
10 |
59,726,667 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2276:Dnajb12
|
UTSW |
10 |
59,728,799 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4110:Dnajb12
|
UTSW |
10 |
59,730,136 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4113:Dnajb12
|
UTSW |
10 |
59,730,136 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4365:Dnajb12
|
UTSW |
10 |
59,715,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4382:Dnajb12
|
UTSW |
10 |
59,733,321 (GRCm39) |
missense |
probably benign |
|
|
R4757:Dnajb12
|
UTSW |
10 |
59,728,592 (GRCm39) |
missense |
probably benign |
|
|
R5156:Dnajb12
|
UTSW |
10 |
59,728,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5484:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5486:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5487:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5504:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5506:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5507:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5560:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5561:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5601:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5603:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R5604:Dnajb12
|
UTSW |
10 |
59,728,574 (GRCm39) |
frame shift |
probably null |
|
|
R6724:Dnajb12
|
UTSW |
10 |
59,728,602 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6935:Dnajb12
|
UTSW |
10 |
59,732,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8044:Dnajb12
|
UTSW |
10 |
59,732,172 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8073:Dnajb12
|
UTSW |
10 |
59,726,001 (GRCm39) |
nonsense |
probably null |
|
|
R9235:Dnajb12
|
UTSW |
10 |
59,728,799 (GRCm39) |
missense |
probably benign |
0.31 |
|
X0022:Dnajb12
|
UTSW |
10 |
59,728,798 (GRCm39) |
missense |
probably null |
0.00 |
|
Z1088:Dnajb12
|
UTSW |
10 |
59,725,876 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCCTCTGGGAAAGCTGTC -3'
(R):5'- GGGAGTCACGCTTCTGAAATC -3'
Sequencing Primer
(F):5'- CCTCTGGGAAAGCTGTCAGAGG -3'
(R):5'- ACGCTTCTGAAATCGCGTAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation