Incidental Mutation 'IGL02271:Tdo2'
| ID |
287162 |
| 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: 0.151)
|
| Stock # |
IGL02271
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
81865719-81883035 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 81871224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029645]
[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 |
noncoding transcript
Transcript: ENSMUST00000137974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151089
|
| Predicted Effect |
probably benign
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn1 |
C |
T |
1: 158,338,520 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,366,290 (GRCm39) |
V1068F |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,047,626 (GRCm39) |
N621K |
probably damaging |
Het |
| Cd44 |
C |
T |
2: 102,661,732 (GRCm39) |
E418K |
possibly damaging |
Het |
| Clip2 |
A |
T |
5: 134,531,425 (GRCm39) |
N758K |
probably benign |
Het |
| Cst11 |
A |
T |
2: 148,613,161 (GRCm39) |
Y55N |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,023,872 (GRCm39) |
L316* |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,843,057 (GRCm39) |
M352T |
probably damaging |
Het |
| Fancd2 |
G |
A |
6: 113,512,720 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,034,068 (GRCm39) |
E2573D |
probably benign |
Het |
| Fbxl13 |
T |
G |
5: 21,695,454 (GRCm39) |
D646A |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Grid2ip |
A |
G |
5: 143,374,664 (GRCm39) |
D928G |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,265,285 (GRCm39) |
L1231P |
probably damaging |
Het |
| Ifitm7 |
A |
G |
16: 13,801,541 (GRCm39) |
F73L |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,155,919 (GRCm39) |
T583S |
probably benign |
Het |
| Kdm6b |
G |
A |
11: 69,296,893 (GRCm39) |
A458V |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,180 (GRCm39) |
K143R |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,764,309 (GRCm39) |
S42P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,857,028 (GRCm39) |
M360L |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,350,250 (GRCm39) |
N677S |
probably damaging |
Het |
| Lrrc9 |
G |
A |
12: 72,557,155 (GRCm39) |
V1407I |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,168,113 (GRCm39) |
T426A |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,937,663 (GRCm39) |
Y146C |
probably damaging |
Het |
| Nlrp4d |
T |
A |
7: 10,122,625 (GRCm39) |
|
noncoding transcript |
Het |
| Notch4 |
A |
T |
17: 34,787,445 (GRCm39) |
N335I |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,215,134 (GRCm39) |
E232D |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,584 (GRCm39) |
I92K |
probably damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,784 (GRCm39) |
T267S |
probably benign |
Het |
| Pax3 |
A |
T |
1: 78,171,969 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,729,508 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,348,567 (GRCm39) |
D869G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,373,332 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pilrb2 |
T |
C |
5: 137,865,125 (GRCm39) |
D223G |
probably benign |
Het |
| Rag1 |
T |
A |
2: 101,473,733 (GRCm39) |
I470F |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,445,317 (GRCm39) |
S333P |
probably damaging |
Het |
| Rundc3b |
A |
G |
5: 8,542,530 (GRCm39) |
Y430H |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,793,472 (GRCm39) |
D1332G |
probably benign |
Het |
| Sgo1 |
G |
A |
17: 53,986,567 (GRCm39) |
A208V |
possibly damaging |
Het |
| Skint5 |
C |
T |
4: 113,794,778 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,706,451 (GRCm39) |
S597T |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,248,085 (GRCm39) |
|
probably benign |
Het |
| Slc52a3 |
A |
G |
2: 151,847,448 (GRCm39) |
|
probably benign |
Het |
| Stac3 |
A |
G |
10: 127,339,768 (GRCm39) |
D158G |
probably benign |
Het |
| Usp25 |
A |
T |
16: 76,912,335 (GRCm39) |
E1018V |
probably damaging |
Het |
| Vmn1r46 |
T |
A |
6: 89,953,886 (GRCm39) |
F245Y |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation