Incidental Mutation 'R7495:Oit3'
| ID |
581041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oit3
|
| Ensembl Gene |
ENSMUSG00000009654 |
| Gene Name |
oncoprotein induced transcript 3 |
| Synonyms |
EF-9 |
| MMRRC Submission |
045568-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
R7495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59258782-59277601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59259765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 546
(D546G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009798
(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 |
possibly damaging
Transcript: ENSMUST00000009798
AA Change: D546G
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: D546G
| 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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,915,871 (GRCm39) |
E1251G |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,913,963 (GRCm39) |
|
probably null |
Het |
| Arap2 |
C |
T |
5: 62,833,893 (GRCm39) |
S858N |
possibly damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,092 (GRCm39) |
F301L |
probably damaging |
Het |
| Catip |
T |
C |
1: 74,401,851 (GRCm39) |
W9R |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,183,112 (GRCm39) |
|
probably null |
Het |
| Cpq |
C |
T |
15: 33,302,586 (GRCm39) |
R246C |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,816,239 (GRCm39) |
S1067P |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,967,941 (GRCm39) |
E316G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,502,044 (GRCm39) |
Q508R |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,424,258 (GRCm39) |
N3060D |
probably benign |
Het |
| Fstl5 |
A |
G |
3: 76,615,099 (GRCm39) |
Y720C |
possibly damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,637 (GRCm39) |
S89P |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,704,346 (GRCm39) |
G900E |
probably damaging |
Het |
| Hrh1 |
A |
C |
6: 114,457,634 (GRCm39) |
D305A |
probably benign |
Het |
| Htt |
C |
T |
5: 34,968,821 (GRCm39) |
S435L |
probably benign |
Het |
| Ice2 |
G |
T |
9: 69,323,511 (GRCm39) |
V669L |
probably benign |
Het |
| Klk1b27 |
G |
A |
7: 43,705,500 (GRCm39) |
V191I |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,152,194 (GRCm39) |
K993R |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,622 (GRCm39) |
Y536H |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,171 (GRCm39) |
D94G |
possibly damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,813,837 (GRCm39) |
T847A |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,389,994 (GRCm39) |
N238K |
probably benign |
Het |
| Pfkfb3 |
A |
C |
2: 11,487,312 (GRCm39) |
I366S |
probably damaging |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptprb |
C |
A |
10: 116,177,353 (GRCm39) |
Q1018K |
probably benign |
Het |
| Rxfp3 |
C |
A |
15: 11,036,011 (GRCm39) |
G454C |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,372,200 (GRCm39) |
V223A |
probably damaging |
Het |
| Sema4c |
C |
A |
1: 36,589,774 (GRCm39) |
V527L |
probably benign |
Het |
| Slk |
C |
A |
19: 47,627,417 (GRCm39) |
P1182T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,659,235 (GRCm39) |
V368A |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,875,160 (GRCm39) |
F601L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,299 (GRCm39) |
D34229G |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,271 (GRCm39) |
H608R |
possibly damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,826 (GRCm39) |
C635* |
probably null |
Het |
| Zfp473 |
A |
T |
7: 44,387,368 (GRCm39) |
F95Y |
probably benign |
Het |
| Zfp984 |
A |
C |
4: 147,839,287 (GRCm39) |
S521R |
possibly 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 |
|
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 |
|
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'- GTGCCGTGATTTGGACGAAC -3'
(R):5'- AACTGAGAGGTACTGTGTTGGC -3'
Sequencing Primer
(F):5'- CCGTGATTTGGACGAACTCAGG -3'
(R):5'- GCCTACAGTGACAATTGACTGTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation