Incidental Mutation 'R4382:Dnajb12'
ID |
325382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajb12
|
Ensembl Gene |
ENSMUSG00000020109 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member B12 |
Synonyms |
mDj10 |
MMRRC Submission |
041679-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R4382 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
59715405-59735118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59733321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 372
(K372N)
|
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
|
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 benign
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
AA Change: K372N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116577 Gene: ENSMUSG00000020109 AA Change: K372N
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: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
A |
4: 144,281,596 (GRCm39) |
T399S |
possibly damaging |
Het |
Acp2 |
T |
C |
2: 91,038,454 (GRCm39) |
S309P |
possibly damaging |
Het |
Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
B4galnt4 |
T |
C |
7: 140,650,449 (GRCm39) |
V772A |
probably damaging |
Het |
Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
Ccdc92b |
G |
A |
11: 74,520,842 (GRCm39) |
S48N |
probably damaging |
Het |
Ceacam12 |
C |
T |
7: 17,799,959 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,466,483 (GRCm39) |
M1L |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,407 (GRCm39) |
T300A |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,538,023 (GRCm39) |
Y2514* |
probably null |
Het |
Col6a6 |
G |
A |
9: 105,660,889 (GRCm39) |
R407W |
probably damaging |
Het |
Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,459,288 (GRCm39) |
I1273T |
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,402,012 (GRCm39) |
|
probably null |
Het |
Fhl5 |
A |
C |
4: 25,200,118 (GRCm39) |
C239G |
probably benign |
Het |
Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
Glrb |
T |
A |
3: 80,786,946 (GRCm39) |
R72S |
probably damaging |
Het |
Gm6811 |
T |
C |
17: 21,314,865 (GRCm39) |
|
noncoding transcript |
Het |
Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
Hk2 |
A |
T |
6: 82,712,322 (GRCm39) |
L542Q |
probably null |
Het |
Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
Kel |
T |
A |
6: 41,675,334 (GRCm39) |
T306S |
probably benign |
Het |
Lpo |
T |
C |
11: 87,713,027 (GRCm39) |
D25G |
probably benign |
Het |
Mboat7 |
T |
A |
7: 3,691,545 (GRCm39) |
Y109F |
possibly damaging |
Het |
Myh15 |
T |
G |
16: 48,963,306 (GRCm39) |
N1082K |
probably benign |
Het |
Nagk |
A |
G |
6: 83,774,993 (GRCm39) |
E90G |
probably benign |
Het |
Nagpa |
A |
T |
16: 5,021,819 (GRCm39) |
F10I |
possibly damaging |
Het |
Or9a4 |
T |
A |
6: 40,548,998 (GRCm39) |
L226H |
probably damaging |
Het |
Otog |
T |
A |
7: 45,939,122 (GRCm39) |
C2051S |
probably damaging |
Het |
Ptpn6 |
A |
G |
6: 124,704,361 (GRCm39) |
V315A |
possibly damaging |
Het |
Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
Rnf41 |
T |
C |
10: 128,272,392 (GRCm39) |
S140P |
probably benign |
Het |
Ros1 |
C |
T |
10: 51,997,055 (GRCm39) |
V1206I |
possibly damaging |
Het |
Scgb2b12 |
T |
A |
7: 32,024,870 (GRCm39) |
E112D |
probably benign |
Het |
Serpinb3b |
T |
A |
1: 107,083,273 (GRCm39) |
M210L |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,493,596 (GRCm39) |
R1672G |
possibly damaging |
Het |
Smc5 |
A |
G |
19: 23,246,210 (GRCm39) |
S70P |
probably benign |
Het |
Spen |
C |
T |
4: 141,200,450 (GRCm39) |
G2703S |
possibly damaging |
Het |
Stard9 |
C |
G |
2: 120,464,703 (GRCm39) |
A56G |
probably damaging |
Het |
Wtap |
A |
G |
17: 13,194,307 (GRCm39) |
S87P |
probably damaging |
Het |
Zzef1 |
T |
G |
11: 72,765,938 (GRCm39) |
S1488R |
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 |
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'- GCCAGAAGTTCTTTGCACTGG -3'
(R):5'- CTGTCTGTCTGTCTGTCCTAAGAG -3'
Sequencing Primer
(F):5'- AGAAGTTCTTTGCACTGGTACCCTG -3'
(R):5'- AAGAGCTTTCTGCATTCACTGTCTG -3'
|
Posted On |
2015-07-06 |