Incidental Mutation 'IGL01707:Dbh'
ID104629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbh
Ensembl Gene ENSMUSG00000000889
Gene Namedopamine beta hydroxylase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01707
Quality Score
Status
Chromosome2
Chromosomal Location27165233-27183200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 27165544 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 10 (C10Y)
Ref Sequence ENSEMBL: ENSMUSP00000000910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000910]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,039,447 R404L probably damaging Het
Acot6 C A 12: 84,100,989 S6R probably benign Het
Adamtsl4 T A 3: 95,683,991 Q222L probably benign Het
Adgre5 T A 8: 83,724,347 T725S probably damaging Het
Agbl3 A T 6: 34,839,454 K766N possibly damaging Het
Ankrd12 A G 17: 65,984,278 S1387P probably damaging Het
Camk2a G A 18: 60,960,050 probably null Het
Cd209d T C 8: 3,878,296 I30V probably benign Het
Ces1d A T 8: 93,189,550 S150T possibly damaging Het
Cox4i2 T C 2: 152,757,036 Y38H probably damaging Het
Csmd2 T C 4: 128,383,005 Y867H possibly damaging Het
Dnajc13 A G 9: 104,228,979 V332A probably damaging Het
Gnb3 G T 6: 124,839,689 A11E possibly damaging Het
Herc2 A G 7: 56,165,187 R2725G probably damaging Het
Kdm4c C T 4: 74,336,927 L573F probably damaging Het
Kmt2c T A 5: 25,300,098 Q3404L probably damaging Het
Mmp9 A G 2: 164,949,989 H231R probably benign Het
Nphp3 A T 9: 104,018,158 D371V possibly damaging Het
Nphp4 A G 4: 152,538,983 I705V probably benign Het
Nutm2 A T 13: 50,469,717 N150I probably damaging Het
Olfr576 T C 7: 102,965,919 I273T probably damaging Het
Olfr611 A T 7: 103,517,934 I150N probably damaging Het
Phb2 A G 6: 124,714,035 Q52R probably benign Het
Plekhh1 T A 12: 79,078,964 V1258E probably benign Het
Pou2f1 A T 1: 165,915,116 N69K probably damaging Het
Rapsn T A 2: 91,043,240 M297K probably benign Het
Senp5 A C 16: 31,989,770 V195G probably damaging Het
Trim25 T C 11: 88,999,691 V68A probably damaging Het
Ttc41 A T 10: 86,776,767 R1301S probably damaging Het
Vcan T C 13: 89,689,745 Y1600C probably damaging Het
Washc5 A G 15: 59,342,015 I864T possibly damaging Het
Wif1 T A 10: 121,083,985 probably null Het
Zdhhc15 G A X: 104,565,816 R208C probably damaging Het
Other mutations in Dbh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02169:Dbh APN 2 27174898 missense probably damaging 1.00
IGL02297:Dbh APN 2 27177736 missense probably benign
IGL02940:Dbh APN 2 27168309 missense probably damaging 1.00
IGL03100:Dbh APN 2 27165522 missense probably benign 0.08
IGL03290:Dbh APN 2 27174932 missense probably damaging 1.00
R0020:Dbh UTSW 2 27170572 splice site probably benign
R1908:Dbh UTSW 2 27181494 missense possibly damaging 0.66
R1914:Dbh UTSW 2 27168222 missense probably damaging 1.00
R1915:Dbh UTSW 2 27168222 missense probably damaging 1.00
R2328:Dbh UTSW 2 27165730 missense probably benign
R3406:Dbh UTSW 2 27174965 missense possibly damaging 0.70
R4475:Dbh UTSW 2 27180972 splice site probably null
R4532:Dbh UTSW 2 27177331 missense possibly damaging 0.65
R4533:Dbh UTSW 2 27177331 missense possibly damaging 0.65
R4619:Dbh UTSW 2 27174824 missense probably damaging 1.00
R5920:Dbh UTSW 2 27177231 intron probably benign
R6936:Dbh UTSW 2 27172797 missense probably benign
R7047:Dbh UTSW 2 27165610 missense possibly damaging 0.87
R7121:Dbh UTSW 2 27168306 missense probably damaging 1.00
R7591:Dbh UTSW 2 27170510 missense probably damaging 1.00
R7753:Dbh UTSW 2 27171436 missense probably benign 0.00
R7814:Dbh UTSW 2 27174848 missense probably damaging 1.00
R8037:Dbh UTSW 2 27165688 missense probably damaging 1.00
Z1176:Dbh UTSW 2 27177727 missense probably damaging 1.00
Posted On2014-01-21