Incidental Mutation 'IGL02202:Tph1'
ID 284380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tph1
Ensembl Gene ENSMUSG00000040046
Gene Name tryptophan hydroxylase 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL02202
Quality Score
Status
Chromosome 7
Chromosomal Location 46294065-46321961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46303185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 264 (D264E)
Ref Sequence ENSEMBL: ENSMUSP00000103296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049298] [ENSMUST00000107669] [ENSMUST00000170251]
AlphaFold P17532
Predicted Effect probably benign
Transcript: ENSMUST00000049298
AA Change: D264E

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037752
Gene: ENSMUSG00000040046
AA Change: D264E

DomainStartEndE-ValueType
Pfam:ACT 21 87 4.3e-8 PFAM
Pfam:Biopterin_H 109 440 4.7e-188 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107669
AA Change: D264E

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103296
Gene: ENSMUSG00000040046
AA Change: D264E

DomainStartEndE-ValueType
Pfam:Biopterin_H 109 439 7.6e-176 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170045
Predicted Effect probably benign
Transcript: ENSMUST00000170251
AA Change: D264E

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132489
Gene: ENSMUSG00000040046
AA Change: D264E

DomainStartEndE-ValueType
Pfam:ACT 21 87 6.7e-8 PFAM
Pfam:Biopterin_H 109 279 3e-97 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000172386
AA Change: S194T
SMART Domains Protein: ENSMUSP00000128727
Gene: ENSMUSG00000040046
AA Change: S194T

DomainStartEndE-ValueType
Pfam:ACT 17 82 6.9e-9 PFAM
Pfam:Biopterin_H 105 164 8.9e-24 PFAM
low complexity region 175 188 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase family. The encoded protein is one of two tryptophan hydroxylase enzymes that catalyze the first and rate limiting step in the biosynthesis of the hormone and neurotransmitter, serotonin. This gene is expressed in peripheral organs, while tryptophan hydroxylase 2 is expressed in neurons. The encoded protein is involved in the development of hypoxia-induced elevations in pulmonary pressures and pulmonary vascular remodeling, and has also been implicated as a regulator of immune tolerance. Disruption of this gene is associated with cardiac dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,238,529 (GRCm39) T709I possibly damaging Het
Acte1 T A 7: 143,447,910 (GRCm39) M251K possibly damaging Het
Arhgef1 T A 7: 24,612,854 (GRCm39) Y185* probably null Het
Atxn7l1 T C 12: 33,392,077 (GRCm39) S218P probably benign Het
Cd200r2 T A 16: 44,729,723 (GRCm39) L126Q probably damaging Het
Cdc6 T A 11: 98,811,641 (GRCm39) probably null Het
Cenph T C 13: 100,898,381 (GRCm39) N174S probably benign Het
Cep192 A G 18: 67,936,207 (GRCm39) R49G possibly damaging Het
Edrf1 A G 7: 133,258,699 (GRCm39) T692A probably benign Het
Frem2 A T 3: 53,562,220 (GRCm39) H762Q probably benign Het
Gli2 T C 1: 118,764,596 (GRCm39) D1185G probably damaging Het
Hsd3b2 T A 3: 98,619,183 (GRCm39) Y254F possibly damaging Het
Itgal C A 7: 126,929,351 (GRCm39) Y1089* probably null Het
Klf11 T G 12: 24,703,631 (GRCm39) V22G probably benign Het
Morc3 T C 16: 93,667,749 (GRCm39) V636A probably benign Het
Nin T A 12: 70,102,210 (GRCm39) D330V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Ntsr2 T A 12: 16,703,661 (GRCm39) V54E probably damaging Het
Or7g27 C A 9: 19,250,545 (GRCm39) A263E probably benign Het
Pdha2 T C 3: 140,916,412 (GRCm39) I365M probably benign Het
Prr19 T C 7: 25,003,462 (GRCm39) S359P probably damaging Het
Ryr2 T C 13: 11,745,274 (GRCm39) K2040E probably damaging Het
Ryr2 C A 13: 11,762,544 (GRCm39) probably benign Het
Sema4a G T 3: 88,357,050 (GRCm39) A307E probably damaging Het
Setd5 T A 6: 113,127,976 (GRCm39) S1310T probably benign Het
Zc3h6 T C 2: 128,858,501 (GRCm39) L844P probably damaging Het
Other mutations in Tph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Tph1 APN 7 46,306,294 (GRCm39) missense probably benign 0.02
IGL01318:Tph1 APN 7 46,314,662 (GRCm39) missense probably damaging 0.99
IGL01538:Tph1 APN 7 46,303,177 (GRCm39) missense probably damaging 1.00
IGL01564:Tph1 APN 7 46,300,305 (GRCm39) splice site probably benign
IGL02021:Tph1 APN 7 46,306,421 (GRCm39) missense possibly damaging 0.55
IGL03072:Tph1 APN 7 46,302,283 (GRCm39) missense probably damaging 0.99
I1329:Tph1 UTSW 7 46,299,437 (GRCm39) missense probably damaging 0.99
R0166:Tph1 UTSW 7 46,297,020 (GRCm39) missense probably damaging 1.00
R0433:Tph1 UTSW 7 46,303,245 (GRCm39) missense probably damaging 1.00
R0485:Tph1 UTSW 7 46,299,448 (GRCm39) missense probably benign 0.00
R0501:Tph1 UTSW 7 46,299,412 (GRCm39) nonsense probably null
R1456:Tph1 UTSW 7 46,296,907 (GRCm39) nonsense probably null
R1474:Tph1 UTSW 7 46,303,286 (GRCm39) missense probably benign 0.00
R1846:Tph1 UTSW 7 46,309,863 (GRCm39) missense probably damaging 0.98
R1967:Tph1 UTSW 7 46,311,538 (GRCm39) missense probably benign 0.30
R2102:Tph1 UTSW 7 46,309,834 (GRCm39) splice site probably null
R2176:Tph1 UTSW 7 46,311,463 (GRCm39) missense possibly damaging 0.91
R2225:Tph1 UTSW 7 46,314,598 (GRCm39) critical splice donor site probably null
R4773:Tph1 UTSW 7 46,306,376 (GRCm39) missense probably damaging 1.00
R4914:Tph1 UTSW 7 46,303,283 (GRCm39) missense probably damaging 1.00
R5590:Tph1 UTSW 7 46,303,216 (GRCm39) missense probably damaging 1.00
R5622:Tph1 UTSW 7 46,296,969 (GRCm39) nonsense probably null
R5960:Tph1 UTSW 7 46,311,429 (GRCm39) critical splice donor site probably null
R5985:Tph1 UTSW 7 46,303,205 (GRCm39) missense probably damaging 1.00
R6362:Tph1 UTSW 7 46,296,867 (GRCm39) missense possibly damaging 0.94
R7151:Tph1 UTSW 7 46,311,541 (GRCm39) missense possibly damaging 0.93
R7329:Tph1 UTSW 7 46,306,285 (GRCm39) splice site probably null
R7395:Tph1 UTSW 7 46,306,627 (GRCm39) splice site probably null
R7975:Tph1 UTSW 7 46,306,678 (GRCm39) missense probably damaging 1.00
R8012:Tph1 UTSW 7 46,306,303 (GRCm39) missense probably damaging 1.00
R8169:Tph1 UTSW 7 46,303,233 (GRCm39) synonymous silent
R8261:Tph1 UTSW 7 46,303,173 (GRCm39) synonymous silent
R9232:Tph1 UTSW 7 46,311,529 (GRCm39) missense probably benign
Posted On 2015-04-16