Incidental Mutation 'IGL00226:Tph1'
| ID |
2349 |
| 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: 0.134)
|
| Stock # |
IGL00226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46294065-46321961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 46306294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 222
(N222K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049298]
[ENSMUST00000107669]
[ENSMUST00000168335]
[ENSMUST00000170251]
|
| AlphaFold |
P17532 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049298
AA Change: N222K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000037752
Gene: ENSMUSG00000040046
AA Change: N222K
| Domain | Start | End | E-Value | Type |
|---|
|
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: N222K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103296
Gene: ENSMUSG00000040046
AA Change: N222K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Biopterin_H
|
109 |
439 |
7.6e-176 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168335
|
| SMART Domains |
Protein: ENSMUSP00000128107
Gene: ENSMUSG00000040046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACT
|
21 |
87 |
3.7e-9 |
PFAM |
|
Pfam:Biopterin_H
|
109 |
149 |
1.8e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170251
AA Change: N222K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132489
Gene: ENSMUSG00000040046
AA Change: N222K
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
C |
A |
3: 36,533,690 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,777,573 (GRCm39) |
S439L |
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,839,823 (GRCm39) |
|
probably null |
Het |
| Cpd |
G |
T |
11: 76,688,615 (GRCm39) |
H886N |
probably benign |
Het |
| Dhrs7 |
A |
G |
12: 72,706,124 (GRCm39) |
C94R |
probably damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,323,277 (GRCm39) |
H1369L |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,272,488 (GRCm39) |
N1068S |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,433,732 (GRCm39) |
D2329E |
possibly damaging |
Het |
| Eif1ad |
A |
G |
19: 5,418,212 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
T |
C |
8: 45,792,380 (GRCm39) |
R693G |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,411 (GRCm39) |
T153S |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,886,481 (GRCm39) |
C1104S |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,134,341 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
C |
T |
14: 8,222,856 (GRCm38) |
R233C |
possibly damaging |
Het |
| Kpna3 |
A |
G |
14: 61,611,737 (GRCm39) |
V300A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,248,857 (GRCm39) |
Y725* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,076,059 (GRCm39) |
S749P |
possibly damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,908 (GRCm39) |
T78S |
probably benign |
Het |
| Or4c110 |
A |
G |
2: 88,831,683 (GRCm39) |
|
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,859 (GRCm39) |
M39K |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,053 (GRCm39) |
I219N |
possibly damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,860 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
T |
A |
3: 122,588,006 (GRCm39) |
F391I |
probably damaging |
Het |
| Ptpn12 |
A |
C |
5: 21,203,666 (GRCm39) |
S371A |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,900 (GRCm39) |
Y254C |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,356,700 (GRCm39) |
C120Y |
probably damaging |
Het |
| Spink5 |
G |
A |
18: 44,120,938 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,099,045 (GRCm39) |
Q1250R |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,805 (GRCm39) |
D351V |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,653,821 (GRCm39) |
D105G |
possibly damaging |
Het |
| Zfp623 |
T |
C |
15: 75,820,052 (GRCm39) |
I336T |
probably damaging |
Het |
|
| Other mutations in Tph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R8261:Tph1
|
UTSW |
7 |
46,303,173 (GRCm39) |
synonymous |
silent |
|
|
R9232:Tph1
|
UTSW |
7 |
46,311,529 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation