Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Tdo2'

401353

Institutional Source

Beutler Lab

Gene Symbol

Tdo2

Ensembl Gene

ENSMUSG00000028011

Gene Name

tryptophan 2,3-dioxygenase

Synonyms

chky, TO, TDO

MMRRC Submission

042829-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81957090-81976202 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 81975323 bp (GRCm38)

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 null
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 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

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	T	1: 93,159,978	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274	I14F	probably damaging	Het
Acin1	T	C	14: 54,642,822		probably benign	Het
Adamts9	C	A	6: 92,807,137	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941		probably null	Het
Atf5	A	T	7: 44,815,086	Y27*	probably null	Het
Atm	A	G	9: 53,506,611	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,087,351		probably benign	Het
Chaf1a	C	T	17: 56,065,000	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419	V1122D	probably benign	Het
Doc2b	C	A	11: 75,786,163	G128V	probably damaging	Het
Dysf	T	C	6: 84,150,034	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129	H933Q	probably damaging	Het
Erc1	A	T	6: 119,761,159	N574K	probably damaging	Het
Eri2	A	T	7: 119,787,846		probably benign	Het
Faxc	A	G	4: 21,948,744	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418		probably benign	Het
Gusb	A	T	5: 129,999,988	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860		probably benign	Het
Krt82	C	A	15: 101,548,388	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854	G369D	probably benign	Het
Plec	T	C	15: 76,176,624	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642		probably benign	Het
Ptpn18	T	A	1: 34,463,510		probably benign	Het
Ptprv	T	C	1: 135,112,260		noncoding transcript	Het
Rac1	C	A	5: 143,508,131	V104L	probably benign	Het
Serpinb7	A	T	1: 107,434,749	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,620,521		probably benign	Het
Srl	G	A	16: 4,482,895	R333*	probably null	Het
Srprb	A	T	9: 103,201,920	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795	S269P	probably damaging	Het
Teddm1a	T	C	1: 153,891,900	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631	T1681A	probably benign	Het
Timm44	G	T	8: 4,275,919		probably null	Het
Trp73	A	G	4: 154,062,602	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnt9b	C	A	11: 103,732,049	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,806,526		probably benign	Het
Zfp352	T	A	4: 90,224,460	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093	L569Q	probably damaging	Het

Other mutations in Tdo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Tdo2	APN	3	81958925	missense	probably damaging	0.99
IGL02129:Tdo2	APN	3	81958925	missense	probably damaging	0.99
IGL02271:Tdo2	APN	3	81963917	splice site	probably benign
IGL02686:Tdo2	APN	3	81968155	missense	probably benign	0.00
IGL02802:Tdo2	APN	3	81975697	intron	probably benign
IGL03171:Tdo2	APN	3	81967029	missense	probably benign
IGL03285:Tdo2	APN	3	81958789	splice site	probably null
R0052:Tdo2	UTSW	3	81967025	missense	probably benign	0.37
R0052:Tdo2	UTSW	3	81967025	missense	probably benign	0.37
R0335:Tdo2	UTSW	3	81964000	missense	probably benign
R0720:Tdo2	UTSW	3	81962758	missense	probably damaging	1.00
R1174:Tdo2	UTSW	3	81974376	missense	probably damaging	1.00
R1175:Tdo2	UTSW	3	81974376	missense	probably damaging	1.00
R1222:Tdo2	UTSW	3	81961468	splice site	probably null
R1418:Tdo2	UTSW	3	81961468	splice site	probably null
R1868:Tdo2	UTSW	3	81960546	missense	probably benign	0.04
R1918:Tdo2	UTSW	3	81958940	missense	probably damaging	1.00
R2031:Tdo2	UTSW	3	81969505	missense	probably damaging	1.00
R2513:Tdo2	UTSW	3	81969505	missense	possibly damaging	0.91
R3615:Tdo2	UTSW	3	81975428	missense	possibly damaging	0.68
R3616:Tdo2	UTSW	3	81975428	missense	possibly damaging	0.68
R3872:Tdo2	UTSW	3	81968086	missense	probably benign	0.08
R5547:Tdo2	UTSW	3	81958940	missense	probably damaging	1.00
R6029:Tdo2	UTSW	3	81961440	missense	probably damaging	1.00
R6089:Tdo2	UTSW	3	81962728	missense	probably damaging	1.00
R6163:Tdo2	UTSW	3	81975403	missense	possibly damaging	0.49
R6379:Tdo2	UTSW	3	81958795	unclassified	probably benign
R7060:Tdo2	UTSW	3	81969559	missense	probably damaging	1.00
R7544:Tdo2	UTSW	3	81971635	critical splice donor site	probably null
R7585:Tdo2	UTSW	3	81962758	missense	probably damaging	1.00
R7724:Tdo2	UTSW	3	81968083	critical splice donor site	probably null
R8942:Tdo2	UTSW	3	81969544	missense	probably benign	0.22
R9276:Tdo2	UTSW	3	81969578	missense	probably benign
R9612:Tdo2	UTSW	3	81971694	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACCACTCAACGTGCCATAG -3'
(R):5'- TTCCAGCCTTAGCCTATAAACAG -3'

Sequencing Primer
(F):5'- TGCCATAGCAGATTTGAATAGGCAC -3'
(R):5'- GCCTATAAACAGTCAAATTCCTGG -3'

Posted On

2016-07-06