Incidental Mutation 'R1174:Tdo2'
| ID |
99785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdo2
|
| Ensembl Gene |
ENSMUSG00000028011 |
| Gene Name |
tryptophan 2,3-dioxygenase |
| Synonyms |
chky, TO, TDO |
| MMRRC Submission |
039247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R1174 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
81865719-81883035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81881683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 40
(S40R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029645]
[ENSMUST00000193879]
|
| AlphaFold |
P48776 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029645
AA Change: S59R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
AA Change: S59R
| 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 damaging
Transcript: ENSMUST00000193879
AA Change: S40R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011
AA Change: S40R
| 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 |
0.3679 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
| Actn3 |
A |
G |
19: 4,914,784 (GRCm39) |
L477P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,071,843 (GRCm39) |
V129A |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,837 (GRCm39) |
F81S |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,474,459 (GRCm39) |
S515C |
probably damaging |
Het |
| Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
| Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Cox4i1 |
C |
A |
8: 121,400,789 (GRCm39) |
N151K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,870,472 (GRCm39) |
L432P |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,027,699 (GRCm39) |
I815N |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
| Hdac1-ps |
A |
T |
17: 78,799,507 (GRCm39) |
Y166F |
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
| Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
| Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
| Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
| Lypd6b |
C |
T |
2: 49,833,609 (GRCm39) |
A83V |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
| Mfsd13a |
T |
A |
19: 46,363,125 (GRCm39) |
I511N |
probably benign |
Het |
| Mrm3 |
T |
C |
11: 76,140,850 (GRCm39) |
V286A |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,794,547 (GRCm39) |
|
probably null |
Het |
| Pclo |
T |
C |
5: 14,727,660 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
| Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
| Rgs12 |
T |
A |
5: 35,123,809 (GRCm39) |
C531S |
probably benign |
Het |
| Rin1 |
C |
A |
19: 5,105,231 (GRCm39) |
Q764K |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,324,348 (GRCm39) |
R959W |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
| Sos1 |
A |
C |
17: 80,753,037 (GRCm39) |
Y323* |
probably null |
Het |
| Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
| Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,031,834 (GRCm39) |
E308G |
probably benign |
Het |
| Tle4 |
C |
T |
19: 14,445,626 (GRCm39) |
V207I |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
| Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
| Vwa1 |
C |
T |
4: 155,857,723 (GRCm39) |
G25D |
probably damaging |
Het |
| Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation