Incidental Mutation 'R5313:Ido1'
| ID |
405704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ido1
|
| Ensembl Gene |
ENSMUSG00000031551 |
| Gene Name |
indoleamine 2,3-dioxygenase 1 |
| Synonyms |
Ido, Indo |
| MMRRC Submission |
042896-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25074148-25086987 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 25077794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 91
(I91S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033956]
[ENSMUST00000110667]
|
| AlphaFold |
P28776 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033956
AA Change: I182S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033956
Gene: ENSMUSG00000031551
AA Change: I182S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IDO
|
15 |
402 |
4.7e-124 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110667
AA Change: I91S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106295
Gene: ENSMUSG00000031551
AA Change: I91S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IDO
|
1 |
313 |
6e-111 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,022,603 (GRCm39) |
C519R |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,118,651 (GRCm39) |
S966T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,529,349 (GRCm39) |
Y1115H |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Arhgef17 |
A |
C |
7: 100,578,131 (GRCm39) |
L939W |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,629 (GRCm39) |
|
probably null |
Het |
| Armh3 |
G |
A |
19: 45,807,414 (GRCm39) |
R661W |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 30,068,798 (GRCm39) |
I147S |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,911,998 (GRCm39) |
D525E |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,034,723 (GRCm39) |
I646F |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,822,743 (GRCm39) |
I205L |
unknown |
Het |
| Cpox |
T |
A |
16: 58,498,311 (GRCm39) |
Y381* |
probably null |
Het |
| Ctsc |
T |
C |
7: 87,958,761 (GRCm39) |
V347A |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,551,188 (GRCm39) |
E1027K |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,593,727 (GRCm39) |
T537S |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,666 (GRCm39) |
I168V |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,185 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,842,970 (GRCm39) |
D157E |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,500,812 (GRCm39) |
I414F |
possibly damaging |
Het |
| Glp2r |
T |
C |
11: 67,648,357 (GRCm39) |
D115G |
probably damaging |
Het |
| Gpr85 |
A |
T |
6: 13,836,301 (GRCm39) |
V201D |
probably damaging |
Het |
| Ism2 |
G |
A |
12: 87,326,536 (GRCm39) |
P468S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,538 (GRCm39) |
K1643E |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,773,995 (GRCm39) |
V223A |
probably benign |
Het |
| Or4c122 |
C |
T |
2: 89,079,721 (GRCm39) |
E106K |
probably benign |
Het |
| Or5b112 |
G |
A |
19: 13,319,429 (GRCm39) |
M102I |
probably benign |
Het |
| Or6c2 |
C |
T |
10: 129,362,950 (GRCm39) |
P285S |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,615,581 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,532 (GRCm39) |
V714A |
probably damaging |
Het |
| Septin8 |
C |
T |
11: 53,426,809 (GRCm39) |
T190I |
probably damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,282,275 (GRCm39) |
K494R |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,681 (GRCm39) |
K542N |
probably damaging |
Het |
| Snd1 |
C |
A |
6: 28,668,600 (GRCm39) |
T429K |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Timm10b |
T |
C |
7: 105,290,287 (GRCm39) |
L60P |
probably damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,559,674 (GRCm39) |
Y373N |
probably damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,457 (GRCm39) |
V354D |
probably benign |
Het |
| Zbtb7b |
G |
T |
3: 89,288,626 (GRCm39) |
T64K |
probably damaging |
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 |
|
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'- CAACTGGATTTACATCACTGCAAAC -3'
(R):5'- TGGGCATATACCACTCTGGC -3'
Sequencing Primer
(F):5'- CTGCAAACTAATGACAAATCCCTTTG -3'
(R):5'- CACAGTTTGTTTGGGAATTCAAAAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation