Incidental Mutation 'R5455:Dnajb12'
ID |
432722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajb12
|
Ensembl Gene |
ENSMUSG00000020109 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
Synonyms |
mDj10 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5455 (G1)
|
Quality Score |
217 |
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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
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 |
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'- TTAGCCTTGCCTAGAGGTGC -3'
(R):5'- CATGAACGTTACCTGAAACATGGAG -3'
Sequencing Primer
(F):5'- TCTGGATTGCCTGCCCAACAG -3'
(R):5'- TTACCTGAAACATGGAGATAGAGTC -3'
|
Posted On |
2016-10-06 |