Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Ido1'

379705

Institutional Source

Beutler Lab

Gene Symbol

Ido1

Ensembl Gene

ENSMUSG00000031551

Gene Name

indoleamine 2,3-dioxygenase 1

Synonyms

Ido, Indo

MMRRC Submission

042515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25074148-25086987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25074533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 279 (D279G)

Ref Sequence

ENSEMBL: ENSMUSP00000106295 (fasta)

Gene Model

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

AlphaFold

P28776

Predicted Effect

probably benign
Transcript: ENSMUST00000033956
AA Change: D370G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033956
Gene: ENSMUSG00000031551
AA Change: D370G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110667
AA Change: D279G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106295
Gene: ENSMUSG00000031551
AA Change: D279G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,255,381 (GRCm39)	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,133,566 (GRCm39)	S244P	probably damaging	Het
Actr6	A	G	10: 89,550,808 (GRCm39)	F329L	probably benign	Het
Actrt3	A	G	3: 30,652,588 (GRCm39)	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,647,886 (GRCm39)	G645C	probably damaging	Het
AI661453	C	T	17: 47,779,480 (GRCm39)	R1069*	probably null	Het
Akr1c6	T	C	13: 4,504,524 (GRCm39)	I303T	probably benign	Het
Arnt	A	G	3: 95,397,965 (GRCm39)	R588G	probably damaging	Het
Atf1	A	G	15: 100,149,979 (GRCm39)		probably null	Het
Casp12	T	C	9: 5,358,726 (GRCm39)	V318A	probably damaging	Het
Cblb	C	T	16: 51,986,392 (GRCm39)	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,896,665 (GRCm39)	I1521F	probably benign	Het
Ccn2	T	C	10: 24,473,225 (GRCm39)	C255R	probably damaging	Het
Ccnb1ip1	T	A	14: 51,029,601 (GRCm39)	K154*	probably null	Het
Cd300a	A	T	11: 114,784,198 (GRCm39)	K69*	probably null	Het
Cdin1	A	G	2: 115,500,568 (GRCm39)		probably null	Het
Clec10a	A	G	11: 70,060,851 (GRCm39)	Y78C	probably damaging	Het
Cnot1	T	C	8: 96,489,695 (GRCm39)	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,292 (GRCm39)	H304R	probably damaging	Het
Crb2	A	T	2: 37,680,257 (GRCm39)	H395L	probably benign	Het
Dnah8	T	A	17: 31,038,113 (GRCm39)	N4257K	probably damaging	Het
Dnase2a	G	A	8: 85,635,477 (GRCm39)	D25N	probably damaging	Het
Drd1	T	C	13: 54,207,186 (GRCm39)	T343A	probably benign	Het
Emid1	G	A	11: 5,082,012 (GRCm39)	T161I	probably benign	Het
Epn2	A	G	11: 61,425,402 (GRCm39)		probably null	Het
Esp36	A	T	17: 38,728,055 (GRCm39)	N75K	possibly damaging	Het
Faf1	A	G	4: 109,792,746 (GRCm39)	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,806,920 (GRCm39)	S231R	probably damaging	Het
Fam78a	T	C	2: 31,959,774 (GRCm39)	E112G	probably damaging	Het
Fgf18	T	C	11: 33,084,316 (GRCm39)	D46G	probably benign	Het
Fggy	G	A	4: 95,585,313 (GRCm39)		probably null	Het
Foxb1	T	C	9: 69,666,859 (GRCm39)	M224V	probably benign	Het
Gpr75	T	C	11: 30,841,808 (GRCm39)	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,730,122 (GRCm39)	*481R	probably null	Het
H2az2	C	A	11: 6,383,750 (GRCm39)	A57S	probably damaging	Het
Hsd17b11	T	C	5: 104,140,748 (GRCm39)	I250V	probably benign	Het
Hus1	C	A	11: 8,946,856 (GRCm39)	L280F	probably benign	Het
Ide	A	T	19: 37,306,469 (GRCm39)	H101Q	unknown	Het
Inpp5b	T	C	4: 124,674,214 (GRCm39)	V307A	probably benign	Het
Ipo5	G	A	14: 121,172,498 (GRCm39)	V519I	probably damaging	Het
Krba1	T	C	6: 48,383,891 (GRCm39)	V239A	probably benign	Het
Lmod3	A	G	6: 97,224,125 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,393,682 (GRCm39)	D836G	probably damaging	Het
Malt1	G	T	18: 65,609,351 (GRCm39)	C774F	probably damaging	Het
Map2k4	C	A	11: 65,600,758 (GRCm39)	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,540,411 (GRCm39)	N294S	probably benign	Het
Mybpc1	A	G	10: 88,389,116 (GRCm39)		probably null	Het
Mybpc3	A	G	2: 90,956,609 (GRCm39)	E637G	possibly damaging	Het
Narf	A	G	11: 121,135,469 (GRCm39)	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,440,064 (GRCm39)	G547D	probably benign	Het
Nucb2	G	T	7: 116,123,540 (GRCm39)	G51*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Otog	C	A	7: 45,913,526 (GRCm39)	D786E	probably benign	Het
Otogl	T	C	10: 107,712,716 (GRCm39)	T543A	probably damaging	Het
Pgap6	T	C	17: 26,339,513 (GRCm39)	F584L	probably damaging	Het
Phf20l1	A	G	15: 66,476,704 (GRCm39)	N266S	probably benign	Het
Pink1	G	T	4: 138,042,866 (GRCm39)	S446*	probably null	Het
Pkp4	T	G	2: 59,135,794 (GRCm39)	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,433,460 (GRCm39)	V205A	probably damaging	Het
Prss32	T	C	17: 24,078,157 (GRCm39)	V281A	probably damaging	Het
Psd3	C	T	8: 68,573,821 (GRCm39)	C120Y	probably damaging	Het
Ptcra	A	G	17: 47,069,574 (GRCm39)	L99P	probably damaging	Het
Rab3gap2	C	T	1: 184,995,026 (GRCm39)	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,066,111 (GRCm39)	E199G	probably damaging	Het
Rbm44	T	A	1: 91,083,216 (GRCm39)	C580S	probably damaging	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rhoq	T	C	17: 87,302,493 (GRCm39)	V143A	probably benign	Het
Sacs	T	A	14: 61,451,246 (GRCm39)	Y4431N	probably benign	Het
Sec24b	A	T	3: 129,796,028 (GRCm39)	S367T	probably benign	Het
Sema4c	G	A	1: 36,589,266 (GRCm39)	S620F	probably benign	Het
Slc12a1	G	A	2: 125,070,670 (GRCm39)	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,848,794 (GRCm39)	R417G	probably benign	Het
Slc22a29	A	T	19: 8,195,722 (GRCm39)	S106T	probably benign	Het
Slc41a2	T	C	10: 83,149,284 (GRCm39)	T220A	probably damaging	Het
Tap1	T	C	17: 34,412,468 (GRCm39)	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,655,422 (GRCm39)	A143D	probably benign	Het
Tbx6	A	T	7: 126,383,707 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,706 (GRCm39)	N402I	probably damaging	Het
Tle3	T	A	9: 61,281,275 (GRCm39)	V22E	probably damaging	Het
Trip4	T	C	9: 65,765,639 (GRCm39)	I353M	probably damaging	Het
Ubr2	C	A	17: 47,270,385 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,580,791 (GRCm39)		probably null	Het
Uhrf1	T	C	17: 56,622,478 (GRCm39)	V431A	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zfp820	T	C	17: 22,038,200 (GRCm39)	K376R	probably benign	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
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
R8490:Ido1	UTSW	8	25,086,954 (GRCm39)	start codon destroyed	probably null	1.00
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'- GGTGGATCTGATTTAATGAGCTATGAC -3'
(R):5'- TGAGAGAGTACATGCCTCCAG -3'

Sequencing Primer
(F):5'- AGCTATGACAGGATGAAGGTGTTTTC -3'
(R):5'- ACCGGAACTTCCTTTTCTTCTTAGAG -3'

Posted On

2016-04-15