Incidental Mutation 'IGL01665:Oit3'
| ID |
103276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oit3
|
| Ensembl Gene |
ENSMUSG00000009654 |
| Gene Name |
oncoprotein induced transcript 3 |
| Synonyms |
EF-9 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
IGL01665
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
59258782-59277601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59274731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 23
(D23V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009798]
|
| AlphaFold |
Q8R4V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009798
AA Change: D23V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: D23V
| 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 |
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
A |
9: 54,530,004 (GRCm39) |
I231L |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,507,506 (GRCm39) |
V22D |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,164,272 (GRCm39) |
T236A |
possibly damaging |
Het |
| Adipor2 |
A |
T |
6: 119,338,887 (GRCm39) |
L122H |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,074,291 (GRCm39) |
I321V |
probably benign |
Het |
| Bhmt2 |
A |
T |
13: 93,799,661 (GRCm39) |
Y258* |
probably null |
Het |
| C230029F24Rik |
T |
A |
1: 49,377,253 (GRCm39) |
|
noncoding transcript |
Het |
| Ccpg1 |
T |
A |
9: 72,913,159 (GRCm39) |
F232I |
probably damaging |
Het |
| Cd83 |
A |
T |
13: 43,955,153 (GRCm39) |
T195S |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,848,386 (GRCm39) |
G847* |
probably null |
Het |
| Cfap70 |
G |
A |
14: 20,453,186 (GRCm39) |
T897M |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,805,475 (GRCm39) |
M181L |
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,457,083 (GRCm39) |
V2090I |
probably benign |
Het |
| Gm45234 |
A |
G |
6: 124,723,571 (GRCm39) |
|
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,406,341 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9 |
T |
A |
1: 172,319,738 (GRCm39) |
C39* |
probably null |
Het |
| Il1rap |
A |
T |
16: 26,541,463 (GRCm39) |
D568V |
probably damaging |
Het |
| Ints7 |
C |
T |
1: 191,345,331 (GRCm39) |
|
probably benign |
Het |
| Lsamp |
C |
T |
16: 41,964,375 (GRCm39) |
R250* |
probably null |
Het |
| Pcdh17 |
T |
A |
14: 84,684,442 (GRCm39) |
L303Q |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,400,450 (GRCm39) |
N800K |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,331 (GRCm39) |
D210G |
probably benign |
Het |
| Plekhb2 |
T |
A |
1: 34,908,411 (GRCm39) |
Y152N |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,678,088 (GRCm39) |
S679P |
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,643,854 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,246,504 (GRCm39) |
S9R |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,985,463 (GRCm39) |
S522T |
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 |
|
|
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 |
|
R4416: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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation