Incidental Mutation 'R5487:Dnajb12'
| ID |
430422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajb12
|
| Ensembl Gene |
ENSMUSG00000020109 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
| Synonyms |
mDj10 |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59715405-59735118 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GC to G
at 59728574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020309]
[ENSMUST00000131810]
[ENSMUST00000142819]
[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 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: 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
probably benign |
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 |
|
|
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 |
|
|
R6013:Dnajb12
|
UTSW |
10 |
59,730,163 (GRCm39) |
critical splice donor site |
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'- TTAGCCTTGCCTAGAGGTGC -3'
(R):5'- TGAACGTTACCTGAAACATGGAG -3'
Sequencing Primer
(F):5'- TCTGGATTGCCTGCCCAACAG -3'
(R):5'- TTACCTGAAACATGGAGATAGAGTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation