Incidental Mutation 'IGL03100:Dbh'
| ID |
418710 |
| 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 # |
IGL03100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 27055534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 3
(A3S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
| AlphaFold |
Q64237 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000910
AA Change: A3S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: A3S
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,208,527 (GRCm39) |
R233S |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,640,270 (GRCm39) |
W73R |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,964 (GRCm39) |
V247A |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,486,109 (GRCm39) |
T538S |
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,625,329 (GRCm39) |
K228R |
probably benign |
Het |
| Atp6v0d2 |
C |
T |
4: 19,910,586 (GRCm39) |
|
probably null |
Het |
| B3gat2 |
A |
T |
1: 23,802,272 (GRCm39) |
D186V |
probably damaging |
Het |
| Bmpr1a |
A |
T |
14: 34,163,164 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,175 (GRCm39) |
D224G |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,770,303 (GRCm39) |
M463V |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,626 (GRCm39) |
I188T |
possibly damaging |
Het |
| Cldn17 |
G |
T |
16: 88,303,489 (GRCm39) |
A80E |
probably damaging |
Het |
| Clptm1l |
A |
G |
13: 73,760,509 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,814,512 (GRCm39) |
V500E |
unknown |
Het |
| Ctdspl2 |
C |
T |
2: 121,809,394 (GRCm39) |
T115I |
probably benign |
Het |
| Fgd4 |
A |
G |
16: 16,295,383 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
T |
A |
19: 12,602,083 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,461,751 (GRCm39) |
M551T |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,253,608 (GRCm39) |
T58A |
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,527,682 (GRCm39) |
K890R |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,446 (GRCm39) |
H809R |
possibly damaging |
Het |
| Knl1 |
A |
G |
2: 118,931,251 (GRCm39) |
E1989G |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,561,939 (GRCm39) |
D125G |
probably damaging |
Het |
| Ogdhl |
A |
T |
14: 32,064,029 (GRCm39) |
M632L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,531,499 (GRCm39) |
I1374T |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,046,243 (GRCm39) |
N670K |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,018 (GRCm39) |
H590R |
probably damaging |
Het |
| Scara3 |
A |
C |
14: 66,168,722 (GRCm39) |
H298Q |
probably damaging |
Het |
| Sirt3 |
T |
C |
7: 140,445,030 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc13a2 |
T |
C |
11: 78,295,299 (GRCm39) |
Q158R |
probably damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,949,504 (GRCm39) |
T629S |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,528 (GRCm39) |
K157E |
probably damaging |
Het |
| Srsf1 |
T |
A |
11: 87,939,954 (GRCm39) |
D155E |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,203,019 (GRCm39) |
R534H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,992 (GRCm39) |
|
probably benign |
Het |
| Ube2m |
A |
G |
7: 12,771,562 (GRCm39) |
L32P |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,044,681 (GRCm39) |
F179I |
possibly damaging |
Het |
| Zfp961 |
T |
C |
8: 72,721,754 (GRCm39) |
*69Q |
probably null |
Het |
|
| Other mutations in Dbh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01707:Dbh
|
APN |
2 |
27,055,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation