Incidental Mutation 'IGL02169:Dbh'
| ID |
282821 |
| 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 # |
IGL02169
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27055519-27073216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27064910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 374
(V374M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000910]
|
| AlphaFold |
Q64237 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000910
AA Change: V374M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000910
Gene: ENSMUSG00000000889
AA Change: V374M
| 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: ENSMUST00000155290
|
| 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 |
|---|
| Abca8b |
T |
A |
11: 109,843,408 (GRCm39) |
I1001F |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,731,858 (GRCm39) |
|
probably null |
Het |
| Apol7c |
T |
G |
15: 77,410,616 (GRCm39) |
D110A |
possibly damaging |
Het |
| Bcr |
A |
G |
10: 74,995,714 (GRCm39) |
N899S |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,702,126 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
G |
A |
13: 73,759,782 (GRCm39) |
V281I |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,311,054 (GRCm39) |
|
probably benign |
Het |
| Eif3b |
A |
G |
5: 140,415,836 (GRCm39) |
D385G |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,492 (GRCm39) |
V294A |
probably damaging |
Het |
| Foxj2 |
A |
G |
6: 122,805,425 (GRCm39) |
N99S |
probably damaging |
Het |
| Gabrr1 |
T |
G |
4: 33,160,261 (GRCm39) |
V315G |
probably damaging |
Het |
| Gm21988 |
T |
C |
11: 70,129,764 (GRCm39) |
E25G |
probably benign |
Het |
| Islr |
A |
T |
9: 58,065,415 (GRCm39) |
F31I |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,171 (GRCm39) |
L109Q |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,490,290 (GRCm39) |
I96T |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,028,757 (GRCm39) |
D330G |
probably damaging |
Het |
| Or2ag19 |
T |
A |
7: 106,444,473 (GRCm39) |
Y218* |
probably null |
Het |
| Or8k33 |
T |
C |
2: 86,384,226 (GRCm39) |
M81V |
probably benign |
Het |
| Phtf1 |
C |
A |
3: 103,904,815 (GRCm39) |
L488I |
probably benign |
Het |
| Plac8l1 |
T |
C |
18: 42,312,008 (GRCm39) |
D137G |
probably damaging |
Het |
| Pth1r |
G |
A |
9: 110,553,503 (GRCm39) |
T392I |
probably damaging |
Het |
| Rab43 |
A |
G |
6: 87,788,406 (GRCm39) |
F41L |
probably damaging |
Het |
| Ralgapb |
C |
T |
2: 158,268,124 (GRCm39) |
L76F |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,958,053 (GRCm39) |
|
probably null |
Het |
| Rpl27a |
T |
C |
7: 109,119,185 (GRCm39) |
I43T |
probably benign |
Het |
| Set |
G |
A |
2: 29,959,536 (GRCm39) |
D129N |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,276,786 (GRCm39) |
Y604F |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,629,792 (GRCm39) |
V491A |
probably benign |
Het |
| Txlna |
T |
C |
4: 129,523,406 (GRCm39) |
T429A |
probably damaging |
Het |
| Vmn1r128 |
C |
T |
7: 21,084,163 (GRCm39) |
P289L |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,125,823 (GRCm39) |
F356S |
probably damaging |
Het |
| Zfp687 |
G |
A |
3: 94,918,743 (GRCm39) |
T343I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,604,745 (GRCm39) |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation