Incidental Mutation 'IGL01707:Dbh'
| ID |
104629 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dbh
|
| Ensembl Gene |
ENSMUSG00000000889 |
| Gene Name |
dopamine beta hydroxylase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27055556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 10
(C10Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
| AlphaFold |
Q64237 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000910
AA Change: C10Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: C10Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
DoH
|
88 |
177 |
6.62e-8 |
SMART |
|
Pfam:Cu2_monooxygen
|
217 |
345 |
4.9e-47 |
PFAM |
|
Pfam:Cu2_monoox_C
|
364 |
520 |
3.6e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150024
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are embryonic lethal probably due to cardiovascular failure, but survive if treated to replace their dopamine deficit. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,027,879 (GRCm39) |
R404L |
probably damaging |
Het |
| Acot6 |
C |
A |
12: 84,147,763 (GRCm39) |
S6R |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,301 (GRCm39) |
Q222L |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 84,450,976 (GRCm39) |
T725S |
probably damaging |
Het |
| Agbl3 |
A |
T |
6: 34,816,389 (GRCm39) |
K766N |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,273 (GRCm39) |
S1387P |
probably damaging |
Het |
| Camk2a |
G |
A |
18: 61,093,122 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,928,296 (GRCm39) |
I30V |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,916,178 (GRCm39) |
S150T |
possibly damaging |
Het |
| Cox4i2 |
T |
C |
2: 152,598,956 (GRCm39) |
Y38H |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,276,798 (GRCm39) |
Y867H |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,106,178 (GRCm39) |
V332A |
probably damaging |
Het |
| Gnb3 |
G |
T |
6: 124,816,652 (GRCm39) |
A11E |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,814,935 (GRCm39) |
R2725G |
probably damaging |
Het |
| Kdm4c |
C |
T |
4: 74,255,164 (GRCm39) |
L573F |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,505,096 (GRCm39) |
Q3404L |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,791,909 (GRCm39) |
H231R |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,895,357 (GRCm39) |
D371V |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,623,440 (GRCm39) |
I705V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,623,753 (GRCm39) |
N150I |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,615,126 (GRCm39) |
I273T |
probably damaging |
Het |
| Or51aa5 |
A |
T |
7: 103,167,141 (GRCm39) |
I150N |
probably damaging |
Het |
| Phb2 |
A |
G |
6: 124,690,998 (GRCm39) |
Q52R |
probably benign |
Het |
| Plekhh1 |
T |
A |
12: 79,125,738 (GRCm39) |
V1258E |
probably benign |
Het |
| Pou2f1 |
A |
T |
1: 165,742,685 (GRCm39) |
N69K |
probably damaging |
Het |
| Rapsn |
T |
A |
2: 90,873,585 (GRCm39) |
M297K |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,808,588 (GRCm39) |
V195G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,517 (GRCm39) |
V68A |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,631 (GRCm39) |
R1301S |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,837,864 (GRCm39) |
Y1600C |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,864 (GRCm39) |
I864T |
possibly damaging |
Het |
| Wif1 |
T |
A |
10: 120,919,890 (GRCm39) |
|
probably null |
Het |
| Zdhhc15 |
G |
A |
X: 103,609,422 (GRCm39) |
R208C |
probably damaging |
Het |
|
| Other mutations in Dbh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02169:Dbh
|
APN |
2 |
27,064,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02297:Dbh
|
APN |
2 |
27,067,748 (GRCm39) |
missense |
probably benign |
|
|
IGL02940:Dbh
|
APN |
2 |
27,058,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Dbh
|
APN |
2 |
27,055,534 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03290:Dbh
|
APN |
2 |
27,064,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Dbh
|
UTSW |
2 |
27,060,584 (GRCm39) |
splice site |
probably benign |
|
|
R1908:Dbh
|
UTSW |
2 |
27,071,506 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1914:Dbh
|
UTSW |
2 |
27,058,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Dbh
|
UTSW |
2 |
27,058,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2328:Dbh
|
UTSW |
2 |
27,055,742 (GRCm39) |
missense |
probably benign |
|
|
R3406:Dbh
|
UTSW |
2 |
27,064,977 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4475:Dbh
|
UTSW |
2 |
27,070,984 (GRCm39) |
splice site |
probably null |
|
|
R4532:Dbh
|
UTSW |
2 |
27,067,343 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4533:Dbh
|
UTSW |
2 |
27,067,343 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4619:Dbh
|
UTSW |
2 |
27,064,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Dbh
|
UTSW |
2 |
27,067,243 (GRCm39) |
intron |
probably benign |
|
|
R6936:Dbh
|
UTSW |
2 |
27,062,809 (GRCm39) |
missense |
probably benign |
|
|
R7047:Dbh
|
UTSW |
2 |
27,055,622 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7121:Dbh
|
UTSW |
2 |
27,058,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7591:Dbh
|
UTSW |
2 |
27,060,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Dbh
|
UTSW |
2 |
27,061,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7814:Dbh
|
UTSW |
2 |
27,064,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Dbh
|
UTSW |
2 |
27,055,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8231:Dbh
|
UTSW |
2 |
27,060,555 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8398:Dbh
|
UTSW |
2 |
27,064,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8525:Dbh
|
UTSW |
2 |
27,055,798 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8530:Dbh
|
UTSW |
2 |
27,058,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Dbh
|
UTSW |
2 |
27,060,328 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Dbh
|
UTSW |
2 |
27,067,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation