Incidental Mutation 'R5156:Dnajb12'
ID |
396738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajb12
|
Ensembl Gene |
ENSMUSG00000020109 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
Synonyms |
mDj10 |
MMRRC Submission |
042738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5156 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
59715405-59735118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59728782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 223
(N223K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020309]
[ENSMUST00000131810]
[ENSMUST00000142819]
[ENSMUST00000146590]
[ENSMUST00000147914]
|
AlphaFold |
Q9QYI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020309
AA Change: N223K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020309 Gene: ENSMUSG00000020109 AA Change: N223K
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 damaging
Transcript: ENSMUST00000142819
AA Change: N223K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118088 Gene: ENSMUSG00000020109 AA Change: N223K
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: ENSMUST00000146590
AA Change: N223K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122056 Gene: ENSMUSG00000020109 AA Change: N223K
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: N223K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116577 Gene: ENSMUSG00000020109 AA Change: N223K
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
G |
T |
17: 79,935,638 (GRCm39) |
|
probably benign |
Het |
Apeh |
C |
T |
9: 107,971,486 (GRCm39) |
A29T |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,826,524 (GRCm39) |
Y1013* |
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,762,355 (GRCm39) |
E537G |
unknown |
Het |
Asf1b |
T |
C |
8: 84,682,540 (GRCm39) |
F28S |
probably damaging |
Het |
Cd46 |
T |
A |
1: 194,767,693 (GRCm39) |
I123L |
possibly damaging |
Het |
Cdca7 |
A |
T |
2: 72,309,370 (GRCm39) |
T48S |
probably damaging |
Het |
Cfap53 |
T |
A |
18: 74,492,838 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,511,599 (GRCm39) |
T599S |
probably benign |
Het |
Csf1 |
T |
A |
3: 107,656,252 (GRCm39) |
T148S |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,699,400 (GRCm39) |
|
probably null |
Het |
Dmpk |
A |
G |
7: 18,818,050 (GRCm39) |
D44G |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,595,264 (GRCm39) |
M1392K |
probably benign |
Het |
Edrf1 |
C |
T |
7: 133,261,908 (GRCm39) |
A867V |
probably damaging |
Het |
Efemp2 |
T |
A |
19: 5,527,706 (GRCm39) |
C94S |
possibly damaging |
Het |
Epha8 |
C |
T |
4: 136,666,037 (GRCm39) |
S373N |
probably benign |
Het |
Foxk1 |
A |
G |
5: 142,434,588 (GRCm39) |
D284G |
possibly damaging |
Het |
Fzd10 |
C |
A |
5: 128,678,366 (GRCm39) |
R29S |
possibly damaging |
Het |
Gm13991 |
T |
C |
2: 116,358,665 (GRCm39) |
|
noncoding transcript |
Het |
Gm6818 |
A |
T |
7: 38,101,471 (GRCm39) |
|
noncoding transcript |
Het |
Hydin |
T |
A |
8: 111,336,333 (GRCm39) |
C5037S |
probably benign |
Het |
Ikzf1 |
T |
A |
11: 11,719,448 (GRCm39) |
M492K |
probably damaging |
Het |
Krt20 |
G |
T |
11: 99,320,879 (GRCm39) |
S394R |
possibly damaging |
Het |
Lrrc71 |
T |
A |
3: 87,653,094 (GRCm39) |
R107S |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,219,323 (GRCm39) |
T436A |
possibly damaging |
Het |
Muc19 |
T |
A |
15: 91,784,614 (GRCm39) |
|
noncoding transcript |
Het |
Neu4 |
T |
C |
1: 93,952,177 (GRCm39) |
V182A |
probably damaging |
Het |
Notch2 |
T |
G |
3: 98,031,626 (GRCm39) |
F1167V |
possibly damaging |
Het |
Nrap |
A |
G |
19: 56,360,277 (GRCm39) |
M189T |
possibly damaging |
Het |
Nt5m |
A |
T |
11: 59,765,487 (GRCm39) |
I172F |
probably damaging |
Het |
Or5b118 |
G |
T |
19: 13,449,037 (GRCm39) |
K234N |
probably damaging |
Het |
Or5w15 |
G |
A |
2: 87,568,119 (GRCm39) |
P183L |
possibly damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,362 (GRCm39) |
C241* |
probably null |
Het |
Plekha5 |
C |
T |
6: 140,372,254 (GRCm39) |
T68M |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,392,461 (GRCm39) |
|
probably null |
Het |
Ppp1r37 |
T |
C |
7: 19,295,900 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
T |
C |
10: 84,704,218 (GRCm39) |
Y238H |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,543,424 (GRCm39) |
|
probably null |
Het |
Sec13 |
G |
A |
6: 113,707,837 (GRCm39) |
A161V |
probably benign |
Het |
Serhl |
G |
A |
15: 82,986,895 (GRCm39) |
|
probably benign |
Het |
Slco4a1 |
T |
C |
2: 180,114,572 (GRCm39) |
V588A |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,956,592 (GRCm39) |
T727A |
probably benign |
Het |
Sp100 |
T |
A |
1: 85,601,404 (GRCm39) |
D241E |
probably damaging |
Het |
Spata2 |
G |
T |
2: 167,325,494 (GRCm39) |
H442N |
probably damaging |
Het |
Speg |
T |
C |
1: 75,404,731 (GRCm39) |
V2588A |
probably damaging |
Het |
Tnfsf12 |
A |
G |
11: 69,578,155 (GRCm39) |
S141P |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,219,762 (GRCm39) |
I2166M |
probably damaging |
Het |
Trim10 |
T |
A |
17: 37,187,948 (GRCm39) |
V388E |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r10 |
A |
G |
5: 109,143,466 (GRCm39) |
V828A |
probably benign |
Het |
Vmn2r75 |
T |
A |
7: 85,813,436 (GRCm39) |
L455F |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,221,666 (GRCm39) |
S541T |
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 |
|
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'- TGATGACAAGAGCCAGGCTG -3'
(R):5'- CTTGGCCTAAGAATGCTGGG -3'
Sequencing Primer
(F):5'- GACTTCCACCGAGGCTTTGAG -3'
(R):5'- GGGGGTCTTAAGTGGATCAAGACTC -3'
|
Posted On |
2016-06-21 |