Mutagenetix > Incidental Mutation

Incidental Mutation 'R8490:Ido1'

657953

Institutional Source

Beutler Lab

Gene Symbol

Ido1

Ensembl Gene

ENSMUSG00000031551

Gene Name

indoleamine 2,3-dioxygenase 1

Synonyms

Ido, Indo

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25074148-25086987 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 25086954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000033956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033956] [ENSMUST00000110667]

AlphaFold

P28776

Predicted Effect

probably null
Transcript: ENSMUST00000033956
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033956
Gene: ENSMUSG00000031551
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:IDO	15	402	4.7e-124	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110667

SMART Domains

Protein: ENSMUSP00000106295
Gene: ENSMUSG00000031551

Domain	Start	End	E-Value	Type
Pfam:IDO	1	313	6e-111	PFAM

Meta Mutation Damage Score

0.9251

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes indoleamine 2,3-dioxygenase (IDO) - a heme enzyme that catalyzes the first and rate-limiting step in tryptophan catabolism to N-formyl-kynurenine. This enzyme acts on multiple tryptophan substrates including D-tryptophan, L-tryptophan, 5-hydroxy-tryptophan, tryptamine, and serotonin. This enzyme is thought to play a role in a variety of pathophysiological processes such as antimicrobial and antitumor defense, neuropathology, immunoregulation, and antioxidant activity. Through its expression in dendritic cells, monocytes, and macrophages this enzyme modulates T-cell behavior by its peri-cellular catabolization of the essential amino acid tryptophan.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele fail to induce IFN-alpha production by dendritic cells after B7 ligation, and show epididymal inflammation, teratospermia, and elevated caudal epididymal sperm counts along with higher protein and cytokine levels and reduced leukocyte count and proteasome activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,323,256 (GRCm39)	K1609Q	probably damaging	Het
Arl5a	A	G	2: 52,314,614 (GRCm39)	F12L	probably benign	Het
Armc9	C	T	1: 86,202,125 (GRCm39)	T761I	probably benign	Het
Bmp1	A	G	14: 70,727,573 (GRCm39)	F670S	possibly damaging	Het
Cd34	T	C	1: 194,621,281 (GRCm39)	V3A	probably benign	Het
Cdkn2a	A	T	4: 89,212,759 (GRCm39)	M1K	probably null	Het
Cep135	C	A	5: 76,786,054 (GRCm39)	H1052Q	probably benign	Het
Cfap100	T	C	6: 90,390,721 (GRCm39)		probably benign	Het
Cib4	A	T	5: 30,703,075 (GRCm39)	Y17N	probably damaging	Het
Col3a1	T	G	1: 45,385,116 (GRCm39)	S78A	probably benign	Het
Crebzf	A	G	7: 90,092,706 (GRCm39)	M162V	probably benign	Het
Dbx2	T	A	15: 95,552,454 (GRCm39)	M64L	possibly damaging	Het
Epb41l2	A	T	10: 25,380,128 (GRCm39)	T884S	probably damaging	Het
Erich3	T	A	3: 154,401,461 (GRCm39)	S37T		Het
Eya1	G	T	1: 14,254,899 (GRCm39)	Q383K	possibly damaging	Het
Gm15130	A	T	2: 110,983,230 (GRCm39)		probably null	Het
Loxhd1	C	T	18: 77,529,162 (GRCm39)	T1069M	possibly damaging	Het
Lrrtm2	T	G	18: 35,346,451 (GRCm39)		probably null	Het
Map1a	C	T	2: 121,135,045 (GRCm39)	H1716Y	possibly damaging	Het
Mycbp2	T	A	14: 103,446,267 (GRCm39)	T1854S	probably benign	Het
Myh13	T	C	11: 67,255,351 (GRCm39)	S1574P	probably damaging	Het
Neu1	G	A	17: 35,150,982 (GRCm39)	A78T	probably benign	Het
Nfam1	T	C	15: 82,907,238 (GRCm39)		probably benign	Het
Or1e27-ps1	T	A	11: 73,555,675 (GRCm39)	L80Q	probably damaging	Het
Or4c10b	A	C	2: 89,711,511 (GRCm39)	T114P	probably damaging	Het
Or8k33	A	T	2: 86,384,027 (GRCm39)	M147K	probably benign	Het
Pdgfra	T	C	5: 75,331,329 (GRCm39)		probably null	Het
Ptgfrn	A	T	3: 100,963,686 (GRCm39)	M642K	probably damaging	Het
R3hdm1	T	A	1: 128,162,864 (GRCm39)	H980Q	probably benign	Het
Rfc2	C	A	5: 134,611,698 (GRCm39)	S19*	probably null	Het
Rhbdf1	C	A	11: 32,160,162 (GRCm39)	S738I	probably damaging	Het
Rif1	T	A	2: 52,001,011 (GRCm39)	N1488K	probably damaging	Het
Rnf31	G	A	14: 55,833,566 (GRCm39)	V525I	probably damaging	Het
Rps27a	T	C	11: 29,496,719 (GRCm39)	D58G	probably benign	Het
Serpinc1	T	G	1: 160,817,028 (GRCm39)	C41G	probably damaging	Het
Siglece	A	T	7: 43,309,486 (GRCm39)	V24D	probably benign	Het
Sparcl1	T	A	5: 104,233,574 (GRCm39)	R592W	probably null	Het
Stard13	A	G	5: 150,987,090 (GRCm39)	S104P	probably damaging	Het
Ston2	A	G	12: 91,614,905 (GRCm39)	V501A	possibly damaging	Het
Sv2b	C	A	7: 74,855,833 (GRCm39)		probably null	Het
Tiam1	T	C	16: 89,681,932 (GRCm39)	R349G	probably damaging	Het
Tmprss11g	A	G	5: 86,639,976 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,650,321 (GRCm39)	R507L	probably damaging	Het
Trabd2b	G	T	4: 114,460,113 (GRCm39)	S417I	probably damaging	Het
Ube2q1	T	A	3: 89,681,308 (GRCm39)	V97E	probably benign	Het
Vim	A	T	2: 13,584,265 (GRCm39)	N306Y	probably damaging	Het
Vmn1r216	G	T	13: 23,283,979 (GRCm39)	A221S	possibly damaging	Het
Vmn2r113	G	A	17: 23,177,372 (GRCm39)	A719T	probably benign	Het
Vmn2r66	A	G	7: 84,654,794 (GRCm39)		probably null	Het
Vps45	T	C	3: 95,948,661 (GRCm39)	S365G	probably benign	Het
Zzz3	T	A	3: 152,134,290 (GRCm39)	C449*	probably null	Het

Other mutations in Ido1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Ido1	APN	8	25,074,575 (GRCm39)	missense	possibly damaging	0.93
IGL01987:Ido1	APN	8	25,083,159 (GRCm39)	missense	probably benign	0.02
IGL02960:Ido1	APN	8	25,083,345 (GRCm39)	splice site	probably benign
R0180:Ido1	UTSW	8	25,083,156 (GRCm39)	missense	possibly damaging	0.87
R0652:Ido1	UTSW	8	25,075,260 (GRCm39)	missense	probably damaging	1.00
R1102:Ido1	UTSW	8	25,083,156 (GRCm39)	missense	probably damaging	1.00
R1474:Ido1	UTSW	8	25,074,462 (GRCm39)	missense	probably damaging	0.97
R1925:Ido1	UTSW	8	25,075,306 (GRCm39)	missense	possibly damaging	0.82
R2509:Ido1	UTSW	8	25,074,501 (GRCm39)	nonsense	probably null
R4913:Ido1	UTSW	8	25,074,533 (GRCm39)	missense	probably benign
R4962:Ido1	UTSW	8	25,074,565 (GRCm39)	missense	probably benign	0.00
R5313:Ido1	UTSW	8	25,077,794 (GRCm39)	missense	probably damaging	1.00
R5654:Ido1	UTSW	8	25,077,819 (GRCm39)	missense	probably damaging	1.00
R5660:Ido1	UTSW	8	25,081,558 (GRCm39)	missense	probably damaging	1.00
R6144:Ido1	UTSW	8	25,075,306 (GRCm39)	missense	possibly damaging	0.82
R7436:Ido1	UTSW	8	25,076,932 (GRCm39)	missense	probably benign	0.00
R7615:Ido1	UTSW	8	25,083,204 (GRCm39)	missense	probably damaging	1.00
R7873:Ido1	UTSW	8	25,074,758 (GRCm39)	missense	probably damaging	0.98
R8896:Ido1	UTSW	8	25,077,880 (GRCm39)	missense	probably benign	0.00
R8917:Ido1	UTSW	8	25,081,523 (GRCm39)	missense	probably benign
R9361:Ido1	UTSW	8	25,079,601 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGCTCTGAATTTGACATCAC -3'
(R):5'- TGACGAAGAGAGATCCTTTGTGG -3'

Sequencing Primer
(F):5'- CTCATTCGCTTAAGAGAACCTGAG -3'
(R):5'- CGAAGAGAGATCCTTTGTGGTTTGG -3'

Posted On

2021-01-18