Tph1 - SNV Details



 Gene Information 
Gene Name Tph1
Gene Description tryptophan hydroxylase 1 [Source:MGI Symbol;Acc:MGI:98796]
MGI phenotype Mice homozygous for one null allele display no gross behavioral abnormalities. Mice homozygous for a second null allele display fatigue, breathing difficulties, progressive pallor, and impaired cardiac function.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; bone remodeling; mammary gland alveolus development; negative regulation of ossification; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen
reduced pteridine as one donor
and incorporation of one atom of oxygen; metabolic process; amino acid binding; serotonin biosynthetic process; response to stress; aromatic amino acid family metabolic process; neuron projection; circadian rhythm; tryptophan 5-monooxygenase activity; response to immobilization stress; iron ion binding
Homolog in other species TPH1
Omim http://omim.org/entry/191060
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040046
Chromosome 7
Coordinate 46,665,238     (Assembly: GRCm38)    
Ref Base T
Codon Change Act/Cct
Var Base G
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.43
G:V0.57
Amino Acid Position 22
Amino Acid Change T->P (Threonine -> Proline)
Sample ID IGL01318
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.43
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000103296:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Tryptophan 5-monooxygenase Trp_5_mOase IPR005963 ENSMUSP00000103296 TIGRfam 10
441 Description available Search pathways
Tyrosine 3-monooxygenase-like Tyrosine_3-monooxygenase-like IPR019773 ENSMUSP00000103296 PIRSF 1
444 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved