Incidental Mutation 'R4365:Dnajb12'
ID |
325712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajb12
|
Ensembl Gene |
ENSMUSG00000020109 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
Synonyms |
mDj10 |
MMRRC Submission |
041113-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R4365 (G1)
|
Quality Score |
119 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
59715405-59735118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59715588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 30
(F30S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020309]
[ENSMUST00000131810]
[ENSMUST00000142819]
[ENSMUST00000146590]
[ENSMUST00000147914]
|
AlphaFold |
Q9QYI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020309
AA Change: F30S
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000020309 Gene: ENSMUSG00000020109 AA Change: F30S
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: ENSMUST00000131810
AA Change: F30S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116244 Gene: ENSMUSG00000020109 AA Change: F30S
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: F30S
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000118088 Gene: ENSMUSG00000020109 AA Change: F30S
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: F30S
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000122056 Gene: ENSMUSG00000020109 AA Change: F30S
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 |
possibly damaging
Transcript: ENSMUST00000147914
AA Change: F30S
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116577 Gene: ENSMUSG00000020109 AA Change: F30S
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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
Btrc |
G |
A |
19: 45,501,919 (GRCm39) |
D213N |
probably damaging |
Het |
C4b |
T |
A |
17: 34,953,717 (GRCm39) |
I964F |
possibly damaging |
Het |
Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
Ccdc153 |
G |
A |
9: 44,154,889 (GRCm39) |
A71T |
probably damaging |
Het |
Celsr3 |
C |
A |
9: 108,707,046 (GRCm39) |
D1176E |
possibly damaging |
Het |
Cfap46 |
A |
C |
7: 139,230,868 (GRCm39) |
V920G |
probably damaging |
Het |
Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
Emilin3 |
T |
C |
2: 160,750,406 (GRCm39) |
R401G |
probably benign |
Het |
F5 |
A |
G |
1: 164,012,519 (GRCm39) |
T478A |
probably damaging |
Het |
Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,699,108 (GRCm39) |
S307R |
probably damaging |
Het |
Lrit2 |
T |
A |
14: 36,794,076 (GRCm39) |
L380Q |
probably damaging |
Het |
Ncan |
A |
G |
8: 70,567,861 (GRCm39) |
S84P |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,250,771 (GRCm39) |
I304V |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,509,772 (GRCm39) |
D16G |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,186,377 (GRCm39) |
D397G |
probably benign |
Het |
Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
Or5p1 |
A |
T |
7: 107,916,313 (GRCm39) |
I71F |
probably benign |
Het |
Or5v1 |
T |
C |
17: 37,810,270 (GRCm39) |
S243P |
probably damaging |
Het |
Or6c212 |
A |
G |
10: 129,559,281 (GRCm39) |
I44T |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,685,726 (GRCm39) |
E731G |
probably damaging |
Het |
Rag1 |
T |
A |
2: 101,473,288 (GRCm39) |
K618M |
probably damaging |
Het |
Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
Rnf150 |
A |
G |
8: 83,590,744 (GRCm39) |
K36E |
probably benign |
Het |
S100a9 |
T |
C |
3: 90,600,081 (GRCm39) |
H105R |
unknown |
Het |
Spindoc |
T |
C |
19: 7,351,219 (GRCm39) |
D246G |
possibly damaging |
Het |
St8sia4 |
A |
T |
1: 95,519,517 (GRCm39) |
Y324N |
possibly damaging |
Het |
Tlr11 |
T |
A |
14: 50,598,926 (GRCm39) |
I304N |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,955,694 (GRCm39) |
T1090A |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,871,379 (GRCm39) |
N7D |
probably 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 |
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'- AGGAGACATACGGTAGGGCTTC -3'
(R):5'- TGGACTACGAATCCCAGCAG -3'
Sequencing Primer
(F):5'- CGGAGGGTTATGTCATCCTTCC -3'
(R):5'- GAATCCCAGCAGCACCCG -3'
|
Posted On |
2015-07-06 |