Incidental Mutation 'R4416:Oit3'
ID |
326846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oit3
|
Ensembl Gene |
ENSMUSG00000009654 |
Gene Name |
oncoprotein induced transcript 3 |
Synonyms |
EF-9 |
MMRRC Submission |
041137-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.420)
|
Stock # |
R4416 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
59258782-59277601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59263925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 403
(Y403C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009798
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009798]
|
AlphaFold |
Q8R4V5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009798
AA Change: Y403C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000009798 Gene: ENSMUSG00000009654 AA Change: Y403C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Blast:ZP
|
50 |
144 |
9e-24 |
BLAST |
EGF
|
150 |
181 |
2.16e1 |
SMART |
EGF
|
185 |
222 |
2.94e-3 |
SMART |
EGF
|
226 |
263 |
2.35e-2 |
SMART |
ZP
|
267 |
516 |
2.74e-30 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162493
|
Meta Mutation Damage Score |
0.5154 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified due to its downregulation in hepatocarcinomas. The encoded protein may be involved in liver development and function. [provided by RefSeq, Sep 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bloord uric acid, increased urine uric acid and polyuria. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
A |
15: 59,888,272 (GRCm39) |
E56V |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,859,531 (GRCm39) |
|
probably null |
Het |
Bnc1 |
G |
T |
7: 81,618,708 (GRCm39) |
H786N |
probably benign |
Het |
Cav1 |
T |
A |
6: 17,339,248 (GRCm39) |
M100K |
probably benign |
Het |
Cdk9 |
A |
G |
2: 32,598,084 (GRCm39) |
L273P |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,026,703 (GRCm39) |
Q484R |
probably benign |
Het |
Elfn1 |
T |
C |
5: 139,957,949 (GRCm39) |
S318P |
possibly damaging |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Fhip2a |
G |
T |
19: 57,373,829 (GRCm39) |
|
probably null |
Het |
Frmd6 |
T |
A |
12: 70,924,023 (GRCm39) |
Y94N |
probably benign |
Het |
Gdpd1 |
A |
T |
11: 86,926,114 (GRCm39) |
V277D |
probably benign |
Het |
Grik1 |
C |
A |
16: 87,848,349 (GRCm39) |
V140L |
probably benign |
Het |
Grpel1 |
A |
G |
5: 36,628,616 (GRCm39) |
H175R |
probably damaging |
Het |
Gtdc1 |
G |
T |
2: 44,465,602 (GRCm39) |
|
probably null |
Het |
Hivep2 |
A |
T |
10: 14,004,914 (GRCm39) |
Q504L |
probably benign |
Het |
Icos |
A |
T |
1: 61,033,849 (GRCm39) |
I160L |
probably benign |
Het |
Igsf9b |
G |
T |
9: 27,234,213 (GRCm39) |
C442F |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,565,562 (GRCm39) |
V1062A |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,553,679 (GRCm39) |
V386I |
unknown |
Het |
Lrp2 |
G |
T |
2: 69,357,575 (GRCm39) |
F409L |
probably benign |
Het |
Nadk |
T |
G |
4: 155,672,183 (GRCm39) |
Y291* |
probably null |
Het |
Nudt6 |
A |
T |
3: 37,459,378 (GRCm39) |
|
probably null |
Het |
Or2ag1b |
G |
A |
7: 106,288,218 (GRCm39) |
T240I |
probably benign |
Het |
Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
Or8d6 |
A |
G |
9: 39,853,724 (GRCm39) |
H56R |
probably damaging |
Het |
Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
Pds5b |
C |
T |
5: 150,659,861 (GRCm39) |
P275S |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,029,019 (GRCm39) |
E117V |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,515,679 (GRCm39) |
V784A |
probably damaging |
Het |
Polr3e |
T |
C |
7: 120,538,280 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
A |
T |
1: 185,014,544 (GRCm39) |
D1231V |
probably benign |
Het |
Rapgef2 |
C |
A |
3: 78,976,364 (GRCm39) |
G1481* |
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rrm1 |
A |
G |
7: 102,097,008 (GRCm39) |
D96G |
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Srp9 |
A |
T |
1: 181,958,976 (GRCm39) |
M50L |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Sult1d1 |
A |
G |
5: 87,706,435 (GRCm39) |
F169S |
probably damaging |
Het |
Tmem63c |
C |
G |
12: 87,128,676 (GRCm39) |
T567R |
probably benign |
Het |
Tmf1 |
G |
T |
6: 97,155,949 (GRCm39) |
F12L |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,089,071 (GRCm39) |
I342T |
probably damaging |
Het |
Veph1 |
A |
T |
3: 65,968,606 (GRCm39) |
N712K |
probably damaging |
Het |
Vti1a |
T |
G |
19: 55,369,380 (GRCm39) |
S91A |
probably benign |
Het |
|
Other mutations in Oit3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01457:Oit3
|
APN |
10 |
59,261,306 (GRCm39) |
unclassified |
probably benign |
|
IGL01665:Oit3
|
APN |
10 |
59,274,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01839:Oit3
|
APN |
10 |
59,265,318 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02028:Oit3
|
APN |
10 |
59,274,477 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4585001:Oit3
|
UTSW |
10 |
59,266,835 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0567:Oit3
|
UTSW |
10 |
59,271,800 (GRCm39) |
missense |
probably damaging |
0.99 |
R0781:Oit3
|
UTSW |
10 |
59,264,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R1110:Oit3
|
UTSW |
10 |
59,264,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R1563:Oit3
|
UTSW |
10 |
59,263,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R1623:Oit3
|
UTSW |
10 |
59,264,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R1693:Oit3
|
UTSW |
10 |
59,261,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R1754:Oit3
|
UTSW |
10 |
59,263,762 (GRCm39) |
splice site |
probably null |
|
R1853:Oit3
|
UTSW |
10 |
59,277,444 (GRCm39) |
critical splice donor site |
probably null |
|
R2070:Oit3
|
UTSW |
10 |
59,266,835 (GRCm39) |
missense |
probably benign |
0.03 |
R2211:Oit3
|
UTSW |
10 |
59,263,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R2516:Oit3
|
UTSW |
10 |
59,277,507 (GRCm39) |
start gained |
probably benign |
|
R2516:Oit3
|
UTSW |
10 |
59,264,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R3103:Oit3
|
UTSW |
10 |
59,274,713 (GRCm39) |
missense |
probably damaging |
0.98 |
R4414:Oit3
|
UTSW |
10 |
59,263,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4415:Oit3
|
UTSW |
10 |
59,263,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4417:Oit3
|
UTSW |
10 |
59,263,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Oit3
|
UTSW |
10 |
59,261,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Oit3
|
UTSW |
10 |
59,259,904 (GRCm39) |
missense |
probably damaging |
0.99 |
R4748:Oit3
|
UTSW |
10 |
59,259,904 (GRCm39) |
missense |
probably damaging |
0.99 |
R4749:Oit3
|
UTSW |
10 |
59,259,904 (GRCm39) |
missense |
probably damaging |
0.99 |
R5070:Oit3
|
UTSW |
10 |
59,259,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R5521:Oit3
|
UTSW |
10 |
59,271,736 (GRCm39) |
missense |
probably benign |
|
R6326:Oit3
|
UTSW |
10 |
59,264,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R6490:Oit3
|
UTSW |
10 |
59,274,374 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6526:Oit3
|
UTSW |
10 |
59,265,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Oit3
|
UTSW |
10 |
59,274,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R6921:Oit3
|
UTSW |
10 |
59,271,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R7129:Oit3
|
UTSW |
10 |
59,264,166 (GRCm39) |
missense |
probably damaging |
0.99 |
R7440:Oit3
|
UTSW |
10 |
59,265,392 (GRCm39) |
missense |
probably damaging |
0.99 |
R7495:Oit3
|
UTSW |
10 |
59,259,765 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7512:Oit3
|
UTSW |
10 |
59,274,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Oit3
|
UTSW |
10 |
59,259,852 (GRCm39) |
missense |
probably benign |
0.03 |
R8312:Oit3
|
UTSW |
10 |
59,274,632 (GRCm39) |
missense |
probably benign |
0.01 |
R8321:Oit3
|
UTSW |
10 |
59,263,982 (GRCm39) |
missense |
probably benign |
0.00 |
R8919:Oit3
|
UTSW |
10 |
59,277,468 (GRCm39) |
missense |
unknown |
|
R9131:Oit3
|
UTSW |
10 |
59,271,751 (GRCm39) |
missense |
probably benign |
0.01 |
R9457:Oit3
|
UTSW |
10 |
59,277,505 (GRCm39) |
start codon destroyed |
unknown |
|
R9478:Oit3
|
UTSW |
10 |
59,274,464 (GRCm39) |
missense |
probably damaging |
0.99 |
R9502:Oit3
|
UTSW |
10 |
59,264,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TATTCCACAGGTGTCTCAAGTG -3'
(R):5'- CAGCAAACTGTTGATCCCCG -3'
Sequencing Primer
(F):5'- CTGTTTTACGACCAAATTCAATGG -3'
(R):5'- AAACTGTTGATCCCCGTGACCTG -3'
|
Posted On |
2015-07-07 |