Incidental Mutation 'IGL01564:Tph1'
ID 90942
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 # IGL01564
Quality Score
Status
Chromosome 7
Chromosomal Location 46294065-46321961 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 46300305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000049298] [ENSMUST00000107669] [ENSMUST00000170251]
AlphaFold P17532
Predicted Effect probably benign
Transcript: ENSMUST00000049298
SMART Domains Protein: ENSMUSP00000037752
Gene: ENSMUSG00000040046

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
SMART Domains Protein: ENSMUSP00000103296
Gene: ENSMUSG00000040046

DomainStartEndE-ValueType
Pfam:Biopterin_H 109 439 7.6e-176 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110264
Predicted Effect probably benign
Transcript: ENSMUST00000170251
SMART Domains Protein: ENSMUSP00000132489
Gene: ENSMUSG00000040046

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

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T A 10: 80,442,693 (GRCm39) M177K probably damaging Het
Ankrd28 G T 14: 31,477,724 (GRCm39) T48K probably damaging Het
Capn3 T C 2: 120,311,189 (GRCm39) I112T probably damaging Het
Clec3a T A 8: 115,152,282 (GRCm39) I96N probably damaging Het
Clic4 C T 4: 134,944,504 (GRCm39) A224T probably damaging Het
Eif2b3 T C 4: 116,885,739 (GRCm39) Y94H probably benign Het
Ep300 A T 15: 81,516,665 (GRCm39) probably benign Het
Errfi1 C A 4: 150,951,487 (GRCm39) T305N probably damaging Het
Fam131c T A 4: 141,106,984 (GRCm39) probably null Het
Fbxo11 G A 17: 88,310,324 (GRCm39) T494I probably benign Het
Homer2 T C 7: 81,268,320 (GRCm39) probably null Het
Hpf1 C A 8: 61,343,513 (GRCm39) probably benign Het
Hspa1b T C 17: 35,176,525 (GRCm39) N487D probably benign Het
Ikbke C A 1: 131,185,658 (GRCm39) A617S probably benign Het
Jade1 G T 3: 41,551,084 (GRCm39) R174S possibly damaging Het
Lcmt1 T C 7: 123,003,663 (GRCm39) F139S probably benign Het
Lipo2 T C 19: 33,698,424 (GRCm39) T318A probably benign Het
Lrp1b C T 2: 40,567,498 (GRCm39) probably benign Het
Lsm14a T C 7: 34,088,780 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,345 (GRCm39) D393G probably benign Het
Nfyb T C 10: 82,588,260 (GRCm39) Y137C probably damaging Het
Or10g1 T C 14: 52,648,299 (GRCm39) D10G probably benign Het
Or5d35 A T 2: 87,855,648 (GRCm39) H194L probably benign Het
Or5p55 T C 7: 107,567,198 (GRCm39) I198T probably benign Het
Scn3a A C 2: 65,291,790 (GRCm39) I1652S probably damaging Het
Slc33a1 C T 3: 63,850,768 (GRCm39) V519I probably benign Het
Strada G T 11: 106,064,118 (GRCm39) N66K probably damaging Het
Thoc2l A T 5: 104,668,529 (GRCm39) Y1017F probably benign Het
Tlr1 T A 5: 65,083,189 (GRCm39) I463F probably damaging Het
Tnfrsf19 G T 14: 61,212,058 (GRCm39) F197L possibly damaging Het
Ttn A T 2: 76,646,922 (GRCm39) L3287H probably damaging Het
Vmn2r18 A T 5: 151,508,633 (GRCm39) S164T possibly damaging Het
Zan C T 5: 137,444,995 (GRCm39) V1755I unknown Het
Zmym4 T C 4: 126,805,073 (GRCm39) I396V possibly 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
IGL02021:Tph1 APN 7 46,306,421 (GRCm39) missense possibly damaging 0.55
IGL02202:Tph1 APN 7 46,303,185 (GRCm39) missense probably benign 0.40
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 2013-12-09