Incidental Mutation 'R1692:Dnajb12'
| ID |
191876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajb12
|
| Ensembl Gene |
ENSMUSG00000020109 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
| Synonyms |
mDj10 |
| MMRRC Submission |
039725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1692 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59715405-59735118 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59732199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 346
(Y346C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020309]
[ENSMUST00000131810]
[ENSMUST00000142819]
[ENSMUST00000146590]
[ENSMUST00000147914]
|
| AlphaFold |
Q9QYI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020309
AA Change: Y346C
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000020309
Gene: ENSMUSG00000020109
AA Change: Y346C
| 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 benign
Transcript: ENSMUST00000142819
AA Change: Y346C
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118088
Gene: ENSMUSG00000020109
AA Change: Y346C
| 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: ENSMUST00000146590
AA Change: Y346C
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000122056
Gene: ENSMUSG00000020109
AA Change: Y346C
| 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 damaging
Transcript: ENSMUST00000147914
AA Change: Y346C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116577
Gene: ENSMUSG00000020109
AA Change: Y346C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,489,673 (GRCm39) |
*582R |
probably null |
Het |
| Agfg2 |
A |
G |
5: 137,662,633 (GRCm39) |
Y145H |
probably damaging |
Het |
| Aldh1a1 |
C |
T |
19: 20,608,182 (GRCm39) |
P335S |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,463,018 (GRCm39) |
R732G |
possibly damaging |
Het |
| Ankef1 |
A |
T |
2: 136,392,346 (GRCm39) |
I512F |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,166,999 (GRCm39) |
D17E |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,602,297 (GRCm39) |
|
probably null |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,157 (GRCm39) |
E111G |
probably benign |
Het |
| Cd79a |
T |
A |
7: 24,600,881 (GRCm39) |
M192K |
probably damaging |
Het |
| Clcn1 |
T |
G |
6: 42,290,032 (GRCm39) |
F822L |
possibly damaging |
Het |
| Erbb3 |
A |
G |
10: 128,407,594 (GRCm39) |
I918T |
probably benign |
Het |
| Fbxw20 |
G |
T |
9: 109,050,777 (GRCm39) |
T377K |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,293,692 (GRCm39) |
I462V |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,266,553 (GRCm39) |
N251S |
probably benign |
Het |
| Gpx1 |
A |
G |
9: 108,216,674 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,340,856 (GRCm39) |
V4443A |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,807 (GRCm39) |
I17K |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,811,793 (GRCm39) |
S927G |
probably null |
Het |
| Map7d1 |
G |
A |
4: 126,136,101 (GRCm39) |
P36S |
probably damaging |
Het |
| Mfsd13a |
C |
A |
19: 46,360,515 (GRCm39) |
H356N |
probably benign |
Het |
| Mtap |
C |
T |
4: 89,095,151 (GRCm39) |
R268C |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,555,203 (GRCm39) |
|
probably null |
Het |
| Myom3 |
T |
C |
4: 135,502,862 (GRCm39) |
L313P |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,569,298 (GRCm39) |
V1391E |
probably damaging |
Het |
| Otoa |
A |
C |
7: 120,690,774 (GRCm39) |
Q3P |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,626,717 (GRCm39) |
E576G |
probably damaging |
Het |
| Pigw |
A |
C |
11: 84,767,892 (GRCm39) |
L479R |
probably damaging |
Het |
| Pip5k1a |
A |
G |
3: 94,971,041 (GRCm39) |
I507T |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,138,123 (GRCm39) |
I157N |
probably benign |
Het |
| Rrm2b |
G |
A |
15: 37,927,566 (GRCm39) |
R115* |
probably null |
Het |
| Sall1 |
C |
T |
8: 89,755,028 (GRCm39) |
S1317N |
probably benign |
Het |
| Serpinb6b |
T |
G |
13: 33,158,978 (GRCm39) |
F179V |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,698,454 (GRCm39) |
F648I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,588,754 (GRCm39) |
T298A |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,550,171 (GRCm39) |
L830P |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,003,072 (GRCm39) |
N387K |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,326 (GRCm39) |
T486I |
probably benign |
Het |
| Tdp1 |
C |
T |
12: 99,921,260 (GRCm39) |
P599S |
probably damaging |
Het |
| Tmem33 |
A |
G |
5: 67,425,897 (GRCm39) |
D38G |
probably null |
Het |
| Uvrag |
C |
T |
7: 98,653,870 (GRCm39) |
R247Q |
probably benign |
Het |
| Vars1 |
T |
C |
17: 35,232,701 (GRCm39) |
V875A |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,074,250 (GRCm39) |
E879G |
probably damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,871 (GRCm39) |
V15I |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,593 (GRCm39) |
T20A |
probably damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,299 (GRCm39) |
H445Q |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,350,795 (GRCm39) |
V515E |
probably damaging |
Het |
| Zmym5 |
G |
A |
14: 57,041,650 (GRCm39) |
T151M |
probably damaging |
Het |
| Zxdc |
C |
T |
6: 90,355,933 (GRCm39) |
Q481* |
probably null |
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 |
|
|
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 |
|
|
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'- GTCATCTCCCTGCCAAGATCTGAAC -3'
(R):5'- GCAAAGAAGCAGTCCTGGCTCATAC -3'
Sequencing Primer
(F):5'- CAGTCTGTCTGGGACCATAGTC -3'
(R):5'- CTGGCTCATACTTGGACCTGG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation