Incidental Mutation 'R8261:Tph1'
ID 656448
Institutional Source Beutler Lab
Gene Symbol Tph1
Ensembl Gene ENSMUSG00000040046
Gene Name tryptophan hydroxylase 1
Synonyms
MMRRC Submission 067686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R8261 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 46294065-46321961 bp(-) (GRCm39)
Type of Mutation synonymous
DNA Base Change (assembly) A to G at 46303173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049298] [ENSMUST00000107669] [ENSMUST00000170251]
AlphaFold P17532
Predicted Effect silent
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 silent
Transcript: ENSMUST00000107669
SMART Domains Protein: ENSMUSP00000103296
Gene: ENSMUSG00000040046

DomainStartEndE-ValueType
Pfam:Biopterin_H 109 439 7.6e-176 PFAM
Predicted Effect silent
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
SMART Domains Protein: ENSMUSP00000128727
Gene: ENSMUSG00000040046
AA Change: S198P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (76/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,425 (GRCm39) E5G probably benign Het
Adam23 T C 1: 63,567,957 (GRCm39) V202A noncoding transcript Het
Adamtsl1 A C 4: 86,195,120 (GRCm39) E512D probably damaging Het
Ahnak A T 19: 8,982,817 (GRCm39) D1367V probably damaging Het
Angpt4 A T 2: 151,769,084 (GRCm39) Q198L probably benign Het
Apcdd1 T A 18: 63,066,974 (GRCm39) H29Q possibly damaging Het
Cdh16 T A 8: 105,341,811 (GRCm39) K755* probably null Het
Cdk6 T G 5: 3,440,685 (GRCm39) F80V probably benign Het
Chd1 T C 17: 17,607,804 (GRCm39) S451P probably benign Het
Chd6 A G 2: 160,799,002 (GRCm39) L2361P probably damaging Het
Chst8 A G 7: 34,447,579 (GRCm39) M13T possibly damaging Het
Cntnap2 T C 6: 47,072,627 (GRCm39) L1065P probably damaging Het
Dctn4 T C 18: 60,659,343 (GRCm39) V14A possibly damaging Het
Dicer1 A T 12: 104,657,865 (GRCm39) V1903D probably damaging Het
E2f2 A G 4: 135,911,791 (GRCm39) silent Het
Eif4g3 T A 4: 137,898,429 (GRCm39) S902T possibly damaging Het
Emid1 G T 11: 5,084,353 (GRCm39) A152D probably benign Het
Fer1l6 T A 15: 58,432,345 (GRCm39) N297K possibly damaging Het
Fes T C 7: 80,032,902 (GRCm39) D281G probably null Het
Frmpd2 T C 14: 33,224,934 (GRCm39) V133A probably benign Het
Fry A G 5: 150,369,372 (GRCm39) Y2282C probably damaging Het
Gm10377 C T 14: 42,616,664 (GRCm39) probably null Het
Gm1527 A G 3: 28,974,749 (GRCm39) T521A probably damaging Het
Gpr141 T A 13: 19,936,013 (GRCm39) H254L probably benign Het
Gpr160 A G 3: 30,950,096 (GRCm39) E56G probably benign Het
Grid2ip T G 5: 143,367,695 (GRCm39) probably null Het
Grin2a A G 16: 9,481,382 (GRCm39) F473S probably damaging Het
Igkv1-131 T C 6: 67,743,102 (GRCm39) T94A probably damaging Het
Inava T A 1: 136,153,215 (GRCm39) N226Y probably damaging Het
Iqgap2 A G 13: 95,772,078 (GRCm39) L1367P probably damaging Het
Kdm5d T A Y: 936,929 (GRCm39) M856K probably damaging Het
Kirrel1 T C 3: 86,995,309 (GRCm39) probably benign Het
Lad1 T C 1: 135,755,500 (GRCm39) S259P probably damaging Het
Lalba A T 15: 98,379,992 (GRCm39) F86Y possibly damaging Het
Lrfn5 G A 12: 61,886,323 (GRCm39) C37Y probably damaging Het
Man2c1 A G 9: 57,046,942 (GRCm39) T665A probably benign Het
Ms4a20 T A 19: 11,087,707 (GRCm39) S75C probably damaging Het
Myh11 T C 16: 14,041,867 (GRCm39) I719V Het
Nbl1 A T 4: 138,812,832 (GRCm39) C34S probably damaging Het
Ncapg T A 5: 45,844,730 (GRCm39) I575N possibly damaging Het
Nlgn1 T C 3: 25,487,816 (GRCm39) T840A possibly damaging Het
Nrdc T C 4: 108,873,876 (GRCm39) S231P possibly damaging Het
Nrg2 T C 18: 36,165,428 (GRCm39) K395E probably benign Het
Nrip1 A T 16: 76,088,949 (GRCm39) N869K possibly damaging Het
Or2a14 T A 6: 43,130,242 (GRCm39) M1K probably null Het
Or4c12 A G 2: 89,773,716 (GRCm39) F248L probably benign Het
Or8s16 A T 15: 98,210,546 (GRCm39) M295K probably benign Het
Otub2 G T 12: 103,369,161 (GRCm39) probably null Het
Paxbp1 T C 16: 90,834,303 (GRCm39) D161G probably benign Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Per2 T A 1: 91,361,170 (GRCm39) Q495L possibly damaging Het
Plxna2 T A 1: 194,431,724 (GRCm39) V571E probably damaging Het
Prr7 C A 13: 55,620,735 (GRCm39) P248T possibly damaging Het
Ptprr A T 10: 116,073,169 (GRCm39) T464S possibly damaging Het
Rapgef2 A G 3: 78,993,325 (GRCm39) V721A probably benign Het
Rfx1 A T 8: 84,819,479 (GRCm39) Y625F probably benign Het
Rps6kb2 G T 19: 4,211,195 (GRCm39) A110D possibly damaging Het
Setdb2 A T 14: 59,651,141 (GRCm39) probably benign Het
Slc25a31 T C 3: 40,679,351 (GRCm39) I272T probably damaging Het
Smpd1 T C 7: 105,204,520 (GRCm39) V133A probably benign Het
Sorl1 T C 9: 41,925,777 (GRCm39) D1185G probably damaging Het
Spag6 T A 2: 18,750,301 (GRCm39) L449H probably benign Het
Sptb C A 12: 76,668,036 (GRCm39) R687L probably benign Het
Sptbn5 A T 2: 119,877,616 (GRCm39) V1012E noncoding transcript Het
Tmem192 A G 8: 65,416,972 (GRCm39) I188V probably benign Het
Tmem253 G A 14: 52,256,708 (GRCm39) V194M probably benign Het
Trak1 A G 9: 121,280,733 (GRCm39) E374G probably damaging Het
Trpv1 A T 11: 73,145,593 (GRCm39) probably null Het
Trub2 T C 2: 29,667,725 (GRCm39) H305R probably benign Het
Ttn A G 2: 76,747,768 (GRCm39) V4427A probably benign Het
Vasn A G 16: 4,466,160 (GRCm39) T36A probably damaging Het
Vmn1r8 A T 6: 57,013,158 (GRCm39) I70F probably benign Het
Vps13c A T 9: 67,862,262 (GRCm39) I2960L probably damaging Het
Zdhhc4 C A 5: 143,307,588 (GRCm39) M144I probably benign Het
Zfp273 T A 13: 67,974,070 (GRCm39) N399K probably benign Het
Zfp976 T A 7: 42,262,125 (GRCm39) T572S unknown Het
Zmym4 A G 4: 126,798,360 (GRCm39) C756R 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
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
R9232:Tph1 UTSW 7 46,311,529 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAGCACATAACTGCATCTGACATC -3'
(R):5'- AGCGGTCTGTTTGAGAGAAATG -3'

Sequencing Primer
(F):5'- CTGCATCTGACATCTAATAAGTTGCC -3'
(R):5'- CGGTCTGTTTGAGAGAAATGTTTTC -3'
Posted On 2020-11-18