Incidental Mutation 'R4949:Ido2'
| ID |
383669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ido2
|
| Ensembl Gene |
ENSMUSG00000031549 |
| Gene Name |
indoleamine 2,3-dioxygenase 2 |
| Synonyms |
Ido2, C230043N17Rik, Indol1 |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25021908-25066349 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to G
at 25023970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121992]
|
| AlphaFold |
Q8R0V5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000121992
|
| SMART Domains |
Protein: ENSMUSP00000113979
Gene: ENSMUSG00000031549
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IDO
|
15 |
399 |
1.4e-124 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140417
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired T cell function and decreased susceptibility to type IV hypersensitivity reaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
probably benign |
Het |
|
| Other mutations in Ido2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0413:Ido2
|
UTSW |
8 |
25,048,159 (GRCm39) |
splice site |
probably null |
|
|
R1103:Ido2
|
UTSW |
8 |
25,066,239 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1601:Ido2
|
UTSW |
8 |
25,066,205 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1868:Ido2
|
UTSW |
8 |
25,043,776 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2158:Ido2
|
UTSW |
8 |
25,030,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Ido2
|
UTSW |
8 |
25,025,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Ido2
|
UTSW |
8 |
25,025,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Ido2
|
UTSW |
8 |
25,025,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Ido2
|
UTSW |
8 |
25,023,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Ido2
|
UTSW |
8 |
25,023,776 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3735:Ido2
|
UTSW |
8 |
25,025,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3820:Ido2
|
UTSW |
8 |
25,023,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3821:Ido2
|
UTSW |
8 |
25,023,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3822:Ido2
|
UTSW |
8 |
25,023,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4520:Ido2
|
UTSW |
8 |
25,066,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4824:Ido2
|
UTSW |
8 |
25,023,875 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5235:Ido2
|
UTSW |
8 |
25,037,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5580:Ido2
|
UTSW |
8 |
25,040,882 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5961:Ido2
|
UTSW |
8 |
25,023,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Ido2
|
UTSW |
8 |
25,023,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Ido2
|
UTSW |
8 |
25,048,212 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7186:Ido2
|
UTSW |
8 |
25,040,826 (GRCm39) |
splice site |
probably null |
|
|
R7248:Ido2
|
UTSW |
8 |
25,038,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7248:Ido2
|
UTSW |
8 |
25,030,657 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Ido2
|
UTSW |
8 |
25,025,154 (GRCm39) |
splice site |
probably null |
|
|
R7788:Ido2
|
UTSW |
8 |
25,037,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7923:Ido2
|
UTSW |
8 |
25,066,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Ido2
|
UTSW |
8 |
25,025,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8191:Ido2
|
UTSW |
8 |
25,023,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9132:Ido2
|
UTSW |
8 |
25,023,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9429:Ido2
|
UTSW |
8 |
25,037,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATGTGGTAACTGCGCAG -3'
(R):5'- CACGGAGCAGTAGATTTCTGTCC -3'
Sequencing Primer
(F):5'- AGCTCTCCCAGGGCCTC -3'
(R):5'- CCTGTGTCTCCTGTCAACAAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation