Incidental Mutation 'IGL01457:Oit3'
| ID |
84852 |
| 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 # |
IGL01457
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
59258782-59277601 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 59261306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009790]
[ENSMUST00000009798]
[ENSMUST00000162643]
|
| AlphaFold |
Q8R4V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009790
|
| SMART Domains |
Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PLA2G12
|
12 |
195 |
1.5e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009798
|
| SMART Domains |
Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162643
|
| SMART Domains |
Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PLA2G12
|
1 |
77 |
1.7e-36 |
PFAM |
|
low complexity region
|
90 |
101 |
N/A |
INTRINSIC |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,382,908 (GRCm39) |
Y1019F |
probably benign |
Het |
| 4930455H04Rik |
T |
G |
3: 116,762,200 (GRCm39) |
|
probably benign |
Het |
| 9830107B12Rik |
A |
T |
17: 48,439,193 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,784,917 (GRCm39) |
V737A |
possibly damaging |
Het |
| Adamts20 |
T |
A |
15: 94,229,329 (GRCm39) |
Y930F |
probably damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,369,825 (GRCm39) |
F365I |
probably damaging |
Het |
| App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
| Bfsp1 |
T |
C |
2: 143,669,564 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,578,263 (GRCm39) |
N478S |
probably damaging |
Het |
| Camsap3 |
G |
A |
8: 3,654,795 (GRCm39) |
V796I |
probably damaging |
Het |
| Carns1 |
A |
T |
19: 4,216,498 (GRCm39) |
|
probably null |
Het |
| Ccdc121 |
A |
T |
5: 31,644,771 (GRCm39) |
I175L |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,593,074 (GRCm39) |
M1600I |
probably benign |
Het |
| Cnot1 |
T |
A |
8: 96,467,637 (GRCm39) |
N1499Y |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,942,632 (GRCm39) |
I196L |
probably damaging |
Het |
| Drc3 |
C |
A |
11: 60,249,475 (GRCm39) |
|
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,970,702 (GRCm39) |
Y234* |
probably null |
Het |
| Il1r1 |
C |
A |
1: 40,352,330 (GRCm39) |
P500Q |
probably damaging |
Het |
| Katnal1 |
G |
T |
5: 148,830,607 (GRCm39) |
|
probably benign |
Het |
| Klhdc2 |
A |
G |
12: 69,343,827 (GRCm39) |
N20S |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,707,017 (GRCm39) |
T1527S |
possibly damaging |
Het |
| Magi1 |
C |
T |
6: 93,724,205 (GRCm39) |
G270D |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,715,922 (GRCm39) |
S2035T |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,301,275 (GRCm39) |
M1253K |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,226,336 (GRCm39) |
M435V |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,183,505 (GRCm39) |
I739V |
probably benign |
Het |
| Npnt |
T |
C |
3: 132,591,743 (GRCm39) |
K430R |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,904,857 (GRCm39) |
N696S |
probably benign |
Het |
| Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,926 (GRCm39) |
I40T |
possibly damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,211 (GRCm39) |
T74A |
probably benign |
Het |
| Or5p6 |
A |
T |
7: 107,631,328 (GRCm39) |
I74K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,813,795 (GRCm39) |
|
probably null |
Het |
| Plat |
A |
G |
8: 23,266,844 (GRCm39) |
M279V |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,439,693 (GRCm39) |
L378* |
probably null |
Het |
| Rasgef1a |
C |
T |
6: 118,061,506 (GRCm39) |
T157I |
probably benign |
Het |
| Rbm22 |
A |
G |
18: 60,693,929 (GRCm39) |
N11S |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,922,426 (GRCm39) |
|
probably benign |
Het |
| Sema6d |
T |
A |
2: 124,495,562 (GRCm39) |
F3Y |
unknown |
Het |
| Sis |
T |
C |
3: 72,868,354 (GRCm39) |
D112G |
probably benign |
Het |
| Slit1 |
C |
A |
19: 41,599,483 (GRCm39) |
G1023C |
probably damaging |
Het |
| Spata31h1 |
C |
A |
10: 82,120,568 (GRCm39) |
K4147N |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,659,329 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,277 (GRCm39) |
I4881T |
probably benign |
Het |
| Supt6 |
C |
A |
11: 78,111,969 (GRCm39) |
D1038Y |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,144 (GRCm39) |
L945Q |
probably damaging |
Het |
| Tgfbr3 |
G |
T |
5: 107,297,764 (GRCm39) |
A212E |
probably damaging |
Het |
| Tipin |
A |
G |
9: 64,211,690 (GRCm39) |
T259A |
probably benign |
Het |
| Traip |
T |
C |
9: 107,847,671 (GRCm39) |
S365P |
probably benign |
Het |
| Tst |
T |
C |
15: 78,283,967 (GRCm39) |
T287A |
probably benign |
Het |
| Tube1 |
C |
T |
10: 39,021,718 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
T |
A |
6: 66,708,393 (GRCm39) |
N6K |
probably damaging |
Het |
| Vmn2r111 |
C |
A |
17: 22,790,966 (GRCm39) |
E111* |
probably null |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,898 (GRCm39) |
T732I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,836 (GRCm39) |
D767E |
possibly damaging |
Het |
|
| Other mutations in Oit3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation