Incidental Mutation 'R0720:Tdo2'
| ID |
63509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdo2
|
| Ensembl Gene |
ENSMUSG00000028011 |
| Gene Name |
tryptophan 2,3-dioxygenase |
| Synonyms |
chky, TO, TDO |
| MMRRC Submission |
038902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R0720 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
81865719-81883035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 81870065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 269
(A269E)
|
| 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: A288E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
AA Change: A288E
| 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 damaging
Transcript: ENSMUST00000193879
AA Change: A269E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011
AA Change: A269E
| 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 |
0.5482 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (44/45) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,024,063 (GRCm39) |
I136T |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,646,572 (GRCm39) |
D416G |
probably damaging |
Het |
| Commd4 |
G |
T |
9: 57,062,718 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,327,213 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,314,007 (GRCm39) |
N1941S |
probably null |
Het |
| Dynap |
T |
C |
18: 70,374,055 (GRCm39) |
D157G |
unknown |
Het |
| Entrep2 |
A |
G |
7: 64,469,658 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,410,242 (GRCm39) |
|
probably null |
Het |
| Fbxo25 |
A |
G |
8: 13,985,222 (GRCm39) |
Y305C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,530,241 (GRCm39) |
D36G |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,805 (GRCm39) |
T438A |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,971,923 (GRCm39) |
Y288F |
possibly damaging |
Het |
| Gm3164 |
C |
A |
14: 4,442,719 (GRCm38) |
S218R |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,811,453 (GRCm39) |
I392M |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,515 (GRCm39) |
M262V |
possibly damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,104,344 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,326,718 (GRCm39) |
N4926K |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,201,406 (GRCm39) |
S631P |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,781,220 (GRCm39) |
H139R |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,688 (GRCm39) |
N170I |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,013 (GRCm39) |
T157S |
probably benign |
Het |
| Ptger2 |
T |
C |
14: 45,226,590 (GRCm39) |
C57R |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,114,769 (GRCm39) |
V59A |
probably damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,975,458 (GRCm39) |
|
probably null |
Het |
| Rxfp2 |
G |
T |
5: 149,967,584 (GRCm39) |
K148N |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,018,057 (GRCm39) |
T623M |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,269 (GRCm39) |
L139P |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,584,960 (GRCm39) |
|
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,971 (GRCm39) |
I223T |
probably damaging |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,156 (GRCm39) |
Y102C |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,964,740 (GRCm39) |
L1297P |
probably benign |
Het |
| Txndc8 |
C |
T |
4: 57,984,245 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,235 (GRCm39) |
N2622S |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,305 (GRCm39) |
F330I |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,925,948 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGACACGCAATGCTCTCAATAA -3'
(R):5'- TGAGACTTGGTGTGAACTCCAGATCA -3'
Sequencing Primer
(F):5'- CATGTGTATAAACAGCCCAAGG -3'
(R):5'- TCCAGATCAGGGCTAAAACTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation