Incidental Mutation 'IGL01538:Tph1'
ID 90076
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 # IGL01538
Quality Score
Status
Chromosome 7
Chromosomal Location 46294065-46321961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46303177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 267 (Y267C)
Ref Sequence ENSEMBL: ENSMUSP00000132489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049298] [ENSMUST00000107669] [ENSMUST00000170251]
AlphaFold P17532
Predicted Effect probably damaging
Transcript: ENSMUST00000049298
AA Change: Y267C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037752
Gene: ENSMUSG00000040046
AA Change: Y267C

DomainStartEndE-ValueType
Pfam:ACT 21 87 4.3e-8 PFAM
Pfam:Biopterin_H 109 440 4.7e-188 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107669
AA Change: Y267C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103296
Gene: ENSMUSG00000040046
AA Change: Y267C

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 damaging
Transcript: ENSMUST00000170251
AA Change: Y267C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132489
Gene: ENSMUSG00000040046
AA Change: Y267C

DomainStartEndE-ValueType
Pfam:ACT 21 87 6.7e-8 PFAM
Pfam:Biopterin_H 109 279 3e-97 PFAM
Predicted Effect silent
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,708,032 (GRCm39) noncoding transcript Het
Abca3 G T 17: 24,595,447 (GRCm39) C328F possibly damaging Het
Aldh5a1 T C 13: 25,102,495 (GRCm39) N323D possibly damaging Het
Atp5f1c T C 2: 10,073,477 (GRCm39) Y32C probably damaging Het
Capn3 T G 2: 120,332,667 (GRCm39) probably null Het
Ccdc113 C A 8: 96,277,866 (GRCm39) D275E probably benign Het
Ccdc40 T A 11: 119,133,545 (GRCm39) F562I possibly damaging Het
Ccn6 A G 10: 39,034,306 (GRCm39) Y99H probably damaging Het
Cd96 T C 16: 45,929,490 (GRCm39) T152A possibly damaging Het
Cdh20 T A 1: 109,988,870 (GRCm39) D257E probably damaging Het
Cilp2 T C 8: 70,333,854 (GRCm39) D1048G probably benign Het
Clrn2 T G 5: 45,617,408 (GRCm39) L93R probably damaging Het
Crat C A 2: 30,299,978 (GRCm39) G134V probably damaging Het
Dis3 A T 14: 99,335,181 (GRCm39) N140K probably benign Het
Dmxl2 T A 9: 54,352,660 (GRCm39) probably benign Het
Dus1l T A 11: 120,683,905 (GRCm39) Q181L probably damaging Het
Ece1 A G 4: 137,675,855 (GRCm39) T410A probably benign Het
Gcc1 T A 6: 28,421,047 (GRCm39) H90L probably damaging Het
Gpr152 T A 19: 4,192,951 (GRCm39) V164E probably damaging Het
Grik3 A C 4: 125,587,829 (GRCm39) I650L possibly damaging Het
Gvin3 T C 7: 106,201,744 (GRCm39) D500G probably damaging Het
Gzmm A T 10: 79,530,896 (GRCm39) T233S probably benign Het
H2-Q4 T A 17: 35,602,288 (GRCm39) V341D probably benign Het
Igsf21 A G 4: 139,755,029 (GRCm39) probably benign Het
Kmt2d T C 15: 98,758,538 (GRCm39) probably benign Het
Kntc1 T G 5: 123,919,721 (GRCm39) V864G probably damaging Het
Lnx1 T C 5: 74,780,816 (GRCm39) E235G possibly damaging Het
Man2b1 G T 8: 85,824,059 (GRCm39) K985N probably benign Het
Map4k1 C A 7: 28,701,044 (GRCm39) P670Q probably damaging Het
Mapk8ip1 C A 2: 92,219,319 (GRCm39) probably null Het
Mettl16 T A 11: 74,683,093 (GRCm39) Y178* probably null Het
Mrpl11 T A 19: 5,013,449 (GRCm39) probably null Het
Nup85 T C 11: 115,460,540 (GRCm39) S140P possibly damaging Het
Or14c44 T C 7: 86,062,167 (GRCm39) L199P possibly damaging Het
Or1j20 T C 2: 36,760,532 (GRCm39) probably benign Het
Or4k51 T A 2: 111,585,350 (GRCm39) V252E probably damaging Het
Or5w16 T C 2: 87,576,942 (GRCm39) V134A probably benign Het
Pcdhb2 T A 18: 37,428,375 (GRCm39) L116* probably null Het
Pdcd7 C A 9: 65,253,985 (GRCm39) R188S probably damaging Het
Pdk2 T C 11: 94,918,111 (GRCm39) Y374C probably damaging Het
Ppp1r12a G T 10: 108,069,882 (GRCm39) D224Y probably damaging Het
Ppp2r2d T A 7: 138,478,364 (GRCm39) Y169N probably damaging Het
Prcp A C 7: 92,559,421 (GRCm39) T162P probably benign Het
Prkd1 A G 12: 50,388,925 (GRCm39) S873P probably benign Het
Ptpn2 T C 18: 67,814,623 (GRCm39) T129A probably benign Het
Rtkn G A 6: 83,123,042 (GRCm39) R68H probably damaging Het
Sall4 C T 2: 168,597,776 (GRCm39) D355N probably damaging Het
Scn7a A G 2: 66,534,196 (GRCm39) V493A probably benign Het
Sema4b G A 7: 79,865,444 (GRCm39) A140T probably damaging Het
Shisa6 C A 11: 66,108,654 (GRCm39) G408C possibly damaging Het
Slc7a9 G T 7: 35,153,589 (GRCm39) V197F probably damaging Het
Spata2 A T 2: 167,326,071 (GRCm39) D249E probably damaging Het
Stk36 T A 1: 74,672,797 (GRCm39) V1013E probably benign Het
Tcp10a T C 17: 7,610,899 (GRCm39) V336A probably damaging Het
Tfb2m A T 1: 179,365,409 (GRCm39) V185D possibly damaging Het
Tgm7 T A 2: 120,937,396 (GRCm39) Y76F probably benign Het
Trgv1 G A 13: 19,520,740 (GRCm39) probably benign Het
Ube2d1 A G 10: 71,091,656 (GRCm39) probably benign Het
Vmn2r12 C A 5: 109,239,716 (GRCm39) R282S probably damaging Het
Vps4a A G 8: 107,763,556 (GRCm39) D72G probably benign Het
Wipf2 T A 11: 98,781,629 (GRCm39) V56D possibly damaging Het
Zfp750 C A 11: 121,402,991 (GRCm39) V586L probably benign Het
Zfp831 A G 2: 174,486,399 (GRCm39) E358G 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
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
R8261:Tph1 UTSW 7 46,303,173 (GRCm39) synonymous silent
R9232:Tph1 UTSW 7 46,311,529 (GRCm39) missense probably benign
Posted On 2013-12-03