Incidental Mutation 'R0052:Tdo2'
| ID |
18474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdo2
|
| Ensembl Gene |
ENSMUSG00000028011 |
| Gene Name |
tryptophan 2,3-dioxygenase |
| Synonyms |
chky, TO, TDO |
| MMRRC Submission |
038346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0052 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
81865719-81883035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81874332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 210
(N210I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029645]
[ENSMUST00000193879]
|
| AlphaFold |
P48776 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029645
AA Change: N229I
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
AA Change: N229I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trp_dioxygenase
|
26 |
372 |
8e-177 |
PFAM |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151089
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193879
AA Change: N210I
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011
AA Change: N210I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trp_dioxygenase
|
7 |
353 |
1.4e-174 |
PFAM |
|
low complexity region
|
374 |
387 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1344 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
| Validation Efficiency |
90% (62/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased plasma and brain levels of tryptophan, increased serotonin levels in the brain, decreased anxiety-related behavior, increased neuronal precursor proliferation and accelerated neurogenesis in the granule cell layer of the olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
| Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
| Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
| Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
| St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
| Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
| Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
| Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
| Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
| Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
probably damaging |
Het |
|
| Other mutations in Tdo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02127:Tdo2
|
APN |
3 |
81,866,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02129:Tdo2
|
APN |
3 |
81,866,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02271:Tdo2
|
APN |
3 |
81,871,224 (GRCm39) |
splice site |
probably benign |
|
|
IGL02686:Tdo2
|
APN |
3 |
81,875,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02802:Tdo2
|
APN |
3 |
81,883,004 (GRCm39) |
intron |
probably benign |
|
|
IGL03171:Tdo2
|
APN |
3 |
81,874,336 (GRCm39) |
missense |
probably benign |
|
|
IGL03285:Tdo2
|
APN |
3 |
81,866,096 (GRCm39) |
splice site |
probably null |
|
|
R0052:Tdo2
|
UTSW |
3 |
81,874,332 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0335:Tdo2
|
UTSW |
3 |
81,871,307 (GRCm39) |
missense |
probably benign |
|
|
R0720:Tdo2
|
UTSW |
3 |
81,870,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Tdo2
|
UTSW |
3 |
81,881,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Tdo2
|
UTSW |
3 |
81,881,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Tdo2
|
UTSW |
3 |
81,868,775 (GRCm39) |
splice site |
probably null |
|
|
R1418:Tdo2
|
UTSW |
3 |
81,868,775 (GRCm39) |
splice site |
probably null |
|
|
R1868:Tdo2
|
UTSW |
3 |
81,867,853 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1918:Tdo2
|
UTSW |
3 |
81,866,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Tdo2
|
UTSW |
3 |
81,876,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Tdo2
|
UTSW |
3 |
81,876,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3615:Tdo2
|
UTSW |
3 |
81,882,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3616:Tdo2
|
UTSW |
3 |
81,882,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3872:Tdo2
|
UTSW |
3 |
81,875,393 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5260:Tdo2
|
UTSW |
3 |
81,882,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5547:Tdo2
|
UTSW |
3 |
81,866,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Tdo2
|
UTSW |
3 |
81,868,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Tdo2
|
UTSW |
3 |
81,870,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Tdo2
|
UTSW |
3 |
81,882,710 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6379:Tdo2
|
UTSW |
3 |
81,866,102 (GRCm39) |
unclassified |
probably benign |
|
|
R7060:Tdo2
|
UTSW |
3 |
81,876,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Tdo2
|
UTSW |
3 |
81,878,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7585:Tdo2
|
UTSW |
3 |
81,870,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Tdo2
|
UTSW |
3 |
81,875,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8942:Tdo2
|
UTSW |
3 |
81,876,851 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9276:Tdo2
|
UTSW |
3 |
81,876,885 (GRCm39) |
missense |
probably benign |
|
|
R9612:Tdo2
|
UTSW |
3 |
81,879,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation