Incidental Mutation 'R6935:Dnajb12'
ID |
540257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajb12
|
Ensembl Gene |
ENSMUSG00000020109 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
Synonyms |
mDj10 |
MMRRC Submission |
045008-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R6935 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
59715405-59735118 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 59732325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020309]
[ENSMUST00000131810]
[ENSMUST00000142819]
[ENSMUST00000146590]
[ENSMUST00000147914]
|
AlphaFold |
Q9QYI4 |
Predicted Effect |
probably benign
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 benign
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 benign
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
Validation Efficiency |
98% (41/42) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
T |
A |
14: 35,533,864 (GRCm39) |
H14L |
probably benign |
Het |
Adar |
A |
G |
3: 89,654,525 (GRCm39) |
N368D |
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,334,204 (GRCm39) |
V71A |
probably benign |
Het |
Ank1 |
C |
T |
8: 23,598,247 (GRCm39) |
T755I |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,885,161 (GRCm39) |
Y632F |
probably damaging |
Het |
Bbc3 |
A |
G |
7: 16,046,124 (GRCm39) |
D20G |
possibly damaging |
Het |
Bche |
T |
G |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Col12a1 |
A |
G |
9: 79,607,782 (GRCm39) |
Y349H |
possibly damaging |
Het |
Crip2 |
T |
C |
12: 113,104,213 (GRCm39) |
C8R |
probably damaging |
Het |
Dhx58 |
T |
A |
11: 100,589,232 (GRCm39) |
|
probably null |
Het |
Dnah2 |
G |
A |
11: 69,312,567 (GRCm39) |
R4333C |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,318,014 (GRCm39) |
E718G |
possibly damaging |
Het |
Erfl |
C |
A |
7: 24,627,986 (GRCm39) |
G181V |
possibly damaging |
Het |
Fbxo28 |
C |
T |
1: 182,169,025 (GRCm39) |
G38R |
unknown |
Het |
Foxb2 |
A |
G |
19: 16,849,983 (GRCm39) |
F341S |
probably benign |
Het |
Gabrb3 |
T |
A |
7: 57,241,561 (GRCm39) |
I29N |
probably damaging |
Het |
Gm7298 |
G |
A |
6: 121,744,653 (GRCm39) |
R557H |
probably benign |
Het |
Itih3 |
T |
A |
14: 30,634,659 (GRCm39) |
Q116L |
possibly damaging |
Het |
Lingo1 |
T |
C |
9: 56,527,149 (GRCm39) |
Y480C |
probably damaging |
Het |
Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,169,824 (GRCm39) |
Y113C |
probably damaging |
Het |
Mcm3ap |
C |
T |
10: 76,340,087 (GRCm39) |
P1453S |
possibly damaging |
Het |
Mdn1 |
T |
G |
4: 32,774,041 (GRCm39) |
F5551V |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,619,820 (GRCm39) |
M1457K |
probably benign |
Het |
Nbeal2 |
T |
A |
9: 110,468,459 (GRCm39) |
E372V |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,323,879 (GRCm39) |
S508T |
probably benign |
Het |
Nebl |
A |
T |
2: 17,353,637 (GRCm39) |
D971E |
probably damaging |
Het |
Nlrp10 |
A |
T |
7: 108,526,107 (GRCm39) |
M77K |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or2y1d |
A |
G |
11: 49,321,825 (GRCm39) |
N174S |
probably damaging |
Het |
Or52ad1 |
A |
T |
7: 102,996,002 (GRCm39) |
N44K |
probably damaging |
Het |
Or8c18 |
G |
T |
9: 38,203,413 (GRCm39) |
M57I |
probably benign |
Het |
Pidd1 |
A |
T |
7: 141,020,215 (GRCm39) |
D570E |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 45,001,631 (GRCm39) |
D427G |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,441,575 (GRCm39) |
Y364C |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,319,388 (GRCm39) |
S142G |
probably damaging |
Het |
Rack1 |
T |
C |
11: 48,694,322 (GRCm39) |
V174A |
probably damaging |
Het |
Rhbdl3 |
C |
T |
11: 80,228,322 (GRCm39) |
A264V |
probably damaging |
Het |
Sh3bp5 |
T |
A |
14: 31,101,473 (GRCm39) |
M170L |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,799,793 (GRCm39) |
F125L |
possibly damaging |
Het |
Slc6a4 |
T |
C |
11: 76,917,994 (GRCm39) |
Y579H |
probably benign |
Het |
Tmem106b |
A |
T |
6: 13,081,554 (GRCm39) |
T154S |
possibly damaging |
Het |
Xrcc5 |
A |
G |
1: 72,382,189 (GRCm39) |
D455G |
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 |
|
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 |
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'- ACCCTGTTTCTTTGCAGAGG -3'
(R):5'- AAGCACAGGTCCTCACTCTG -3'
Sequencing Primer
(F):5'- CAGAGGAAGGCTTGCTGTACC -3'
(R):5'- AATCCTTGCAGCCCTGGG -3'
|
Posted On |
2018-11-06 |