Incidental Mutation 'IGL03285:Tdo2'
| ID |
415697 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tdo2
|
| Ensembl Gene |
ENSMUSG00000028011 |
| Gene Name |
tryptophan 2,3-dioxygenase |
| Synonyms |
chky, TO, TDO |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL03285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
81865719-81883035 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 81866096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029645]
[ENSMUST00000029649]
[ENSMUST00000193879]
|
| AlphaFold |
P48776 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029645
|
| SMART Domains |
Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trp_dioxygenase
|
26 |
372 |
8e-177 |
PFAM |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029649
|
| SMART Domains |
Protein: ENSMUSP00000029649
Gene: ENSMUSG00000028015
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pept_C1
|
99 |
311 |
2.21e-69 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155144
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193879
|
| SMART Domains |
Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trp_dioxygenase
|
7 |
353 |
1.4e-174 |
PFAM |
|
low complexity region
|
374 |
387 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Atp7a |
A |
T |
X: 105,153,381 (GRCm39) |
E1094D |
probably benign |
Het |
| Carf |
A |
G |
1: 60,185,313 (GRCm39) |
T453A |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,897,597 (GRCm39) |
N229S |
possibly damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,480 (GRCm39) |
Y176H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,221,535 (GRCm39) |
N1213I |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,892,557 (GRCm39) |
R726H |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,416 (GRCm39) |
H69R |
possibly damaging |
Het |
| Gm1527 |
A |
T |
3: 28,974,566 (GRCm39) |
I460F |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,969,318 (GRCm39) |
I501T |
possibly damaging |
Het |
| Igfl3 |
T |
C |
7: 17,914,172 (GRCm39) |
|
probably benign |
Het |
| Igkv2-109 |
T |
C |
6: 68,279,902 (GRCm39) |
I41T |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,109,510 (GRCm39) |
K236N |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,157 (GRCm39) |
T174S |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 137,996,301 (GRCm39) |
T93A |
probably damaging |
Het |
| Lamc1 |
G |
T |
1: 153,103,431 (GRCm39) |
N1378K |
possibly damaging |
Het |
| Ldlrad2 |
T |
C |
4: 137,300,955 (GRCm39) |
M28V |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Met |
T |
C |
6: 17,553,336 (GRCm39) |
S1041P |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,205 (GRCm39) |
L192P |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,031,096 (GRCm39) |
S1507P |
probably benign |
Het |
| Slc7a2 |
A |
G |
8: 41,368,030 (GRCm39) |
D598G |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,734 (GRCm39) |
D493G |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,555,011 (GRCm39) |
V395I |
possibly 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 |
|
|
R0052:Tdo2
|
UTSW |
3 |
81,874,332 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
2016-08-02 |
Incidental Mutation