Incidental Mutation 'IGL02686:Tdo2'
ID |
303579 |
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 # |
IGL02686
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
81865719-81883035 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81875462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 164
(N164S)
|
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: N183S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000029645 Gene: ENSMUSG00000028011 AA Change: N183S
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: N164S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000141237 Gene: ENSMUSG00000028011 AA Change: N164S
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
C |
T |
12: 81,468,448 (GRCm39) |
G58S |
possibly damaging |
Het |
Adcyap1r1 |
G |
A |
6: 55,458,110 (GRCm39) |
A304T |
probably benign |
Het |
Adipoq |
A |
G |
16: 22,975,865 (GRCm39) |
T110A |
possibly damaging |
Het |
Ago2 |
T |
C |
15: 72,985,591 (GRCm39) |
Y668C |
possibly damaging |
Het |
Ampd2 |
A |
T |
3: 107,983,811 (GRCm39) |
D575E |
possibly damaging |
Het |
Anxa5 |
C |
T |
3: 36,503,504 (GRCm39) |
E317K |
probably benign |
Het |
Atf2 |
A |
T |
2: 73,675,844 (GRCm39) |
M169K |
possibly damaging |
Het |
Bicc1 |
C |
A |
10: 70,779,190 (GRCm39) |
|
probably benign |
Het |
Bicra |
A |
G |
7: 15,721,840 (GRCm39) |
M559T |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,113,563 (GRCm39) |
I1245T |
probably benign |
Het |
Bltp3b |
A |
T |
10: 89,641,055 (GRCm39) |
Q742L |
probably benign |
Het |
Cacna1e |
G |
A |
1: 154,369,155 (GRCm39) |
A294V |
probably damaging |
Het |
Cacna1h |
G |
A |
17: 25,604,723 (GRCm39) |
P1197S |
possibly damaging |
Het |
Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cts8 |
T |
C |
13: 61,398,784 (GRCm39) |
T241A |
probably benign |
Het |
Cubn |
T |
C |
2: 13,330,037 (GRCm39) |
I2615V |
possibly damaging |
Het |
Cxcl12 |
A |
G |
6: 117,150,546 (GRCm39) |
|
probably benign |
Het |
Fig4 |
T |
C |
10: 41,140,000 (GRCm39) |
D307G |
probably damaging |
Het |
Flt1 |
T |
C |
5: 147,525,412 (GRCm39) |
I909V |
probably damaging |
Het |
Foxk1 |
T |
A |
5: 142,439,340 (GRCm39) |
S427T |
probably damaging |
Het |
Gosr1 |
G |
A |
11: 76,641,688 (GRCm39) |
T130M |
probably benign |
Het |
Grik1 |
G |
T |
16: 87,806,649 (GRCm39) |
|
probably null |
Het |
Hipk1 |
C |
T |
3: 103,685,333 (GRCm39) |
S94N |
possibly damaging |
Het |
Ints7 |
T |
C |
1: 191,318,704 (GRCm39) |
L147P |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,156,086 (GRCm39) |
D551G |
probably damaging |
Het |
Or11g25 |
G |
A |
14: 50,723,426 (GRCm39) |
M170I |
probably benign |
Het |
Or5p81 |
A |
T |
7: 108,267,093 (GRCm39) |
I157F |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,535,516 (GRCm39) |
|
probably benign |
Het |
Ren1 |
A |
T |
1: 133,286,207 (GRCm39) |
N250I |
possibly damaging |
Het |
Ripply2 |
A |
C |
9: 86,898,009 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,768,975 (GRCm39) |
|
probably benign |
Het |
Smad3 |
T |
A |
9: 63,575,064 (GRCm39) |
K51M |
probably damaging |
Het |
Snapc1 |
C |
A |
12: 74,011,370 (GRCm39) |
|
probably benign |
Het |
Srfbp1 |
T |
G |
18: 52,608,726 (GRCm39) |
V42G |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
Tat |
T |
C |
8: 110,723,481 (GRCm39) |
V323A |
probably damaging |
Het |
Tefm |
T |
A |
11: 80,027,722 (GRCm39) |
L345F |
probably damaging |
Het |
Tmem145 |
C |
A |
7: 25,014,150 (GRCm39) |
N407K |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,607,767 (GRCm39) |
N445S |
probably damaging |
Het |
Vmn2r20 |
A |
G |
6: 123,362,585 (GRCm39) |
M733T |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,533,526 (GRCm39) |
V477M |
possibly damaging |
Het |
Zdhhc4 |
A |
G |
5: 143,306,146 (GRCm39) |
F194S |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,821,771 (GRCm39) |
S25T |
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 |
|
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 |