Incidental Mutation 'R0501:Tph1'
ID 47120
Institutional Source Beutler Lab
Gene Symbol Tph1
Ensembl Gene ENSMUSG00000040046
Gene Name tryptophan hydroxylase 1
Synonyms
MMRRC Submission 038696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R0501 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 46294065-46321961 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 46299412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 376 (Y376*)
Ref Sequence ENSEMBL: ENSMUSP00000103296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049298] [ENSMUST00000107669] [ENSMUST00000170251]
AlphaFold P17532
Predicted Effect probably null
Transcript: ENSMUST00000049298
AA Change: Y376*
SMART Domains Protein: ENSMUSP00000037752
Gene: ENSMUSG00000040046
AA Change: Y376*

DomainStartEndE-ValueType
Pfam:ACT 21 87 4.3e-8 PFAM
Pfam:Biopterin_H 109 440 4.7e-188 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107669
AA Change: Y376*
SMART Domains Protein: ENSMUSP00000103296
Gene: ENSMUSG00000040046
AA Change: Y376*

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
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,209,216 (GRCm39) S415P probably benign Het
Adam19 C T 11: 46,013,957 (GRCm39) P316S probably damaging Het
Adamts2 A G 11: 50,558,972 (GRCm39) D229G probably benign Het
Adcy10 C T 1: 165,337,959 (GRCm39) P191L probably damaging Het
Adgrv1 T C 13: 81,707,269 (GRCm39) Y1379C probably damaging Het
Akap9 T C 5: 4,020,685 (GRCm39) L1132P probably damaging Het
Aoah A G 13: 21,189,243 (GRCm39) T489A probably benign Het
Apc2 T C 10: 80,150,958 (GRCm39) L1975P probably damaging Het
Bpifa5 A T 2: 154,005,616 (GRCm39) D66V probably benign Het
C230029F24Rik T C 1: 49,374,629 (GRCm39) noncoding transcript Het
Cacna1h A T 17: 25,607,641 (GRCm39) V892E probably damaging Het
Car4 G A 11: 84,854,268 (GRCm39) V72I probably benign Het
Cfap91 C G 16: 38,155,997 (GRCm39) M75I probably damaging Het
Chst3 A G 10: 60,022,049 (GRCm39) L266P probably damaging Het
Ckap2l G A 2: 129,127,411 (GRCm39) R256W possibly damaging Het
Cntn4 A T 6: 106,595,296 (GRCm39) D471V probably damaging Het
Cntrob G A 11: 69,213,694 (GRCm39) S32F probably damaging Het
Cpne7 T A 8: 123,852,994 (GRCm39) N200K possibly damaging Het
Creb3l3 C A 10: 80,922,416 (GRCm39) M271I probably benign Het
Csmd1 T A 8: 17,077,339 (GRCm39) Q106L probably damaging Het
D7Ertd443e G A 7: 133,896,701 (GRCm39) T563I probably damaging Het
Dmac1 T G 4: 75,196,413 (GRCm39) N26H unknown Het
Dop1b T C 16: 93,549,750 (GRCm39) F230L probably benign Het
Dpp6 T A 5: 27,930,604 (GRCm39) I812N probably damaging Het
Fabp12 T C 3: 10,315,203 (GRCm39) D48G probably benign Het
Fbn1 G A 2: 125,143,669 (GRCm39) T2820M probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fcho2 A T 13: 98,901,023 (GRCm39) S277R possibly damaging Het
Fmo2 A G 1: 162,704,497 (GRCm39) S470P probably benign Het
Gm17541 T G 12: 4,739,730 (GRCm39) probably benign Het
Gm4353 A T 7: 115,682,706 (GRCm39) Y292N probably benign Het
Igkv4-71 A T 6: 69,220,290 (GRCm39) I69N probably damaging Het
Insrr G T 3: 87,717,991 (GRCm39) A871S probably benign Het
Irs2 C T 8: 11,056,396 (GRCm39) V679M probably damaging Het
Itpr3 T A 17: 27,326,263 (GRCm39) H1344Q probably benign Het
Kcnma1 T C 14: 23,361,784 (GRCm39) M1074V possibly damaging Het
Kif1a G A 1: 92,983,967 (GRCm39) R602W probably damaging Het
Kif21b A T 1: 136,090,837 (GRCm39) D1215V probably benign Het
Mapk13 G A 17: 28,995,327 (GRCm39) V183M probably damaging Het
Mbp C T 18: 82,593,322 (GRCm39) S100F probably damaging Het
Mcm6 A G 1: 128,283,373 (GRCm39) I44T probably benign Het
Ncor1 T A 11: 62,264,148 (GRCm39) D418V possibly damaging Het
Nid2 T A 14: 19,839,736 (GRCm39) probably null Het
Nolc1 T C 19: 46,067,359 (GRCm39) V80A probably damaging Het
Or10a5 A T 7: 106,635,439 (GRCm39) T26S probably benign Het
Or10ak14 C A 4: 118,611,027 (GRCm39) C238F probably benign Het
Or12e9 A T 2: 87,201,896 (GRCm39) R7W probably damaging Het
Or13e8 A C 4: 43,697,079 (GRCm39) C31W probably damaging Het
Or1j1 A T 2: 36,702,492 (GRCm39) L204* probably null Het
Or2ag1 A T 7: 106,313,810 (GRCm39) M26K probably benign Het
Or2ag18 G A 7: 106,405,018 (GRCm39) S217F probably damaging Het
Or4a68 T C 2: 89,270,060 (GRCm39) T188A probably benign Het
Or4e1 T A 14: 52,701,383 (GRCm39) M1L possibly damaging Het
Or5d14 A T 2: 87,880,815 (GRCm39) I51N probably damaging Het
Or5m12 A G 2: 85,735,348 (GRCm39) F17L probably damaging Het
Or7g35 T A 9: 19,495,914 (GRCm39) I27N probably damaging Het
Pcgf3 T A 5: 108,622,978 (GRCm39) C38S probably damaging Het
Pdia4 A T 6: 47,777,936 (GRCm39) V352E probably damaging Het
Pik3c2a C A 7: 115,953,290 (GRCm39) V1202L probably damaging Het
Rbm15 G T 3: 107,239,846 (GRCm39) A184E possibly damaging Het
Rsph3a T A 17: 8,197,952 (GRCm39) L442* probably null Het
Scg2 G C 1: 79,413,320 (GRCm39) L468V probably damaging Het
Sdk1 A T 5: 141,923,473 (GRCm39) I365L probably benign Het
Setdb1 A G 3: 95,246,140 (GRCm39) V595A probably benign Het
Skic3 A C 13: 76,295,925 (GRCm39) M1063L probably benign Het
Slc22a22 T A 15: 57,113,046 (GRCm39) T398S probably benign Het
Stk11 C A 10: 79,962,119 (GRCm39) P217Q probably damaging Het
Tes G A 6: 17,097,557 (GRCm39) D222N probably benign Het
Tmem132e T A 11: 82,325,894 (GRCm39) I206N possibly damaging Het
Tmem214 G T 5: 31,029,876 (GRCm39) R251L probably damaging Het
Tmem253 T A 14: 52,256,036 (GRCm39) I105N probably damaging Het
Toe1 A G 4: 116,664,682 (GRCm39) V12A probably benign Het
Top1 C A 2: 160,556,079 (GRCm39) H513N probably damaging Het
Trim45 T A 3: 100,830,535 (GRCm39) L103Q probably damaging Het
Ttn T A 2: 76,774,518 (GRCm39) probably null Het
Twnk T C 19: 44,996,185 (GRCm39) V206A probably damaging Het
Ube2z A G 11: 95,941,114 (GRCm39) S343P probably damaging Het
Vmn2r8 T C 5: 108,951,049 (GRCm39) D132G probably benign Het
Wdr20rt A T 12: 65,272,581 (GRCm39) T15S probably benign Het
Wdr59 C T 8: 112,185,579 (GRCm39) R841Q possibly damaging Het
Wdtc1 A G 4: 133,036,151 (GRCm39) F130L possibly damaging Het
Wnk1 C T 6: 119,939,764 (GRCm39) R43Q probably damaging Het
Ythdf3 T C 3: 16,259,236 (GRCm39) L461P probably damaging Het
Zcchc2 T G 1: 105,943,821 (GRCm39) F462C 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
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
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
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
Predicted Primers PCR Primer
(F):5'- TGGGGAGGAACCAATGTCTCAGTG -3'
(R):5'- GTGCAGTCAGGACCCTTGTGTAAC -3'

Sequencing Primer
(F):5'- GAGGAACCAATGTCTCAGTGTATCC -3'
(R):5'- GGACCCTTGTGTAACTCAGATCAG -3'
Posted On 2013-06-12