Incidental Mutation 'IGL01839:Oit3'
| ID |
155055 |
| 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 # |
IGL01839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
59258782-59277601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59265318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 316
(V316I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009798]
|
| AlphaFold |
Q8R4V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009798
AA Change: V316I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: V316I
| 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
|
| 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 |
|---|
| Adam6a |
T |
A |
12: 113,508,242 (GRCm39) |
L205Q |
probably benign |
Het |
| Cadps |
G |
T |
14: 12,467,184 (GRCm38) |
|
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,676,027 (GRCm39) |
Q223* |
probably null |
Het |
| Col11a2 |
G |
A |
17: 34,283,056 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,350,990 (GRCm39) |
V28A |
unknown |
Het |
| Cyp17a1 |
A |
G |
19: 46,659,110 (GRCm39) |
I177T |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,782 (GRCm39) |
L274P |
probably damaging |
Het |
| Fastkd3 |
A |
G |
13: 68,732,971 (GRCm39) |
R431G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,168 (GRCm39) |
N2278S |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,423,694 (GRCm39) |
A756E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,909 (GRCm39) |
Y1087C |
probably damaging |
Het |
| Khdrbs2 |
T |
C |
1: 32,453,943 (GRCm39) |
|
probably benign |
Het |
| Kmt5a |
A |
G |
5: 124,589,417 (GRCm39) |
K205R |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,607,975 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
T |
C |
12: 84,840,432 (GRCm39) |
S1045G |
possibly damaging |
Het |
| Nfib |
T |
C |
4: 82,228,607 (GRCm39) |
M505V |
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,437 (GRCm39) |
M1K |
probably null |
Het |
| Or5b119 |
T |
C |
19: 13,456,804 (GRCm39) |
T253A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,502 (GRCm39) |
N294I |
probably damaging |
Het |
| Pld4 |
A |
T |
12: 112,731,513 (GRCm39) |
H222L |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,421,394 (GRCm39) |
|
probably benign |
Het |
| Sgms2 |
T |
C |
3: 131,135,751 (GRCm39) |
K41R |
possibly damaging |
Het |
| Slc22a4 |
A |
T |
11: 53,886,903 (GRCm39) |
S280T |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 23,996,668 (GRCm39) |
S58P |
possibly damaging |
Het |
| Slc7a15 |
C |
T |
12: 8,589,365 (GRCm39) |
G61S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,758,685 (GRCm39) |
K2190E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,644,702 (GRCm39) |
Q13017H |
probably damaging |
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 |
|
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 |
2014-02-04 |
Incidental Mutation