Incidental Mutation 'R6766:Oit3'
| ID |
531938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oit3
|
| Ensembl Gene |
ENSMUSG00000009654 |
| Gene Name |
oncoprotein induced transcript 3 |
| Synonyms |
EF-9 |
| MMRRC Submission |
044882-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
R6766 (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 59274534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 89
(N89D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009798]
|
| AlphaFold |
Q8R4V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009798
AA Change: N89D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: N89D
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
G |
A |
8: 25,362,646 (GRCm39) |
S17L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd34c |
A |
G |
9: 89,611,381 (GRCm39) |
V320A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,388,227 (GRCm39) |
L1112I |
possibly damaging |
Het |
| Arap2 |
A |
C |
5: 62,834,443 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,401,582 (GRCm39) |
I1429N |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,099,861 (GRCm39) |
N290D |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,542 (GRCm39) |
W5R |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,827 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,364 (GRCm39) |
T842A |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,236 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,358,522 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,333,564 (GRCm39) |
I4800V |
probably damaging |
Het |
| Efcab7 |
CAAGTAAAGTAA |
CAAGTAA |
4: 99,735,161 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,348,990 (GRCm39) |
Q382* |
probably null |
Het |
| Fam83e |
A |
G |
7: 45,376,070 (GRCm39) |
D261G |
probably damaging |
Het |
| Ifnk |
T |
G |
4: 35,152,134 (GRCm39) |
S21A |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,903,204 (GRCm39) |
H1157R |
probably benign |
Het |
| Ighv1-67 |
T |
C |
12: 115,567,654 (GRCm39) |
K67R |
possibly damaging |
Het |
| Inpp4a |
C |
A |
1: 37,411,422 (GRCm39) |
A97D |
probably damaging |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Irgm1 |
T |
C |
11: 48,756,928 (GRCm39) |
I294M |
possibly damaging |
Het |
| Isoc2b |
C |
T |
7: 4,854,061 (GRCm39) |
V104M |
probably damaging |
Het |
| Kif2c |
A |
C |
4: 117,024,280 (GRCm39) |
S311R |
probably benign |
Het |
| Morn3 |
G |
A |
5: 123,179,270 (GRCm39) |
A60V |
probably damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,293 (GRCm39) |
N141I |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,832,876 (GRCm39) |
V42A |
probably benign |
Het |
| Or5d44 |
T |
A |
2: 88,142,095 (GRCm39) |
Q15L |
noncoding transcript |
Het |
| Or8b48 |
A |
C |
9: 38,493,069 (GRCm39) |
R165S |
probably damaging |
Het |
| Pan2 |
C |
A |
10: 128,150,381 (GRCm39) |
N708K |
possibly damaging |
Het |
| Parp1 |
T |
A |
1: 180,425,927 (GRCm39) |
V886E |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,127,753 (GRCm39) |
A745E |
probably benign |
Het |
| Pcyox1 |
C |
T |
6: 86,371,390 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
A |
T |
13: 13,176,713 (GRCm39) |
|
probably null |
Het |
| Samd1 |
T |
C |
8: 84,726,361 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,773 (GRCm39) |
D475E |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,535 (GRCm39) |
V239A |
possibly damaging |
Het |
| Smo |
T |
A |
6: 29,736,044 (GRCm39) |
L12Q |
unknown |
Homo |
| Srpk1 |
C |
T |
17: 28,821,727 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,216,362 (GRCm39) |
F191L |
probably damaging |
Het |
| Syngr2 |
T |
C |
11: 117,704,261 (GRCm39) |
V182A |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,174,139 (GRCm39) |
A889V |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,484 (GRCm39) |
Y82F |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,841,220 (GRCm39) |
Y272* |
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vsig8 |
T |
A |
1: 172,388,143 (GRCm39) |
M37K |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,616,339 (GRCm39) |
D1218Y |
unknown |
Het |
| Wdr11 |
T |
G |
7: 129,226,036 (GRCm39) |
M727R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Yod1 |
T |
A |
1: 130,647,008 (GRCm39) |
L295* |
probably null |
Het |
| Zfp113 |
G |
T |
5: 138,143,608 (GRCm39) |
S214* |
probably null |
Het |
| Zfp438 |
T |
A |
18: 5,213,780 (GRCm39) |
M393L |
probably benign |
Het |
| Zfp946 |
G |
A |
17: 22,674,752 (GRCm39) |
C502Y |
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 |
|
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 |
|
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'- TAACTCCATCTGTGGGCTTG -3'
(R):5'- ATCAGTCTGAACGAGCCCTG -3'
Sequencing Primer
(F):5'- GGGTACTTACGGCCACAGTAGAC -3'
(R):5'- AGCCCTGGAGGAACACTGAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation