Incidental Mutation 'PIT4585001:Oit3'
ID |
556614 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oit3
|
Ensembl Gene |
ENSMUSG00000009654 |
Gene Name |
oncoprotein induced transcript 3 |
Synonyms |
EF-9 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
PIT4585001 (G1)
|
Quality Score |
168.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
59258782-59277601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59266835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 224
(I224F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009798
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009798]
|
AlphaFold |
Q8R4V5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009798
AA Change: I224F
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000009798 Gene: ENSMUSG00000009654 AA Change: I224F
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: 93.6%
- 3x: 91.2%
- 10x: 86.5%
- 20x: 76.8%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aurka |
T |
C |
2: 172,199,117 (GRCm39) |
M318V |
probably benign |
Het |
Cacna2d1 |
T |
A |
5: 16,531,342 (GRCm39) |
D560E |
probably damaging |
Het |
Ccdc148 |
T |
A |
2: 58,872,988 (GRCm39) |
T202S |
probably benign |
Het |
Cdc42bpb |
T |
C |
12: 111,271,412 (GRCm39) |
D1149G |
probably damaging |
Het |
Clasp1 |
T |
A |
1: 118,390,285 (GRCm39) |
N156K |
probably damaging |
Het |
Cox18 |
G |
A |
5: 90,365,434 (GRCm39) |
T255I |
possibly damaging |
Het |
Cse1l |
A |
G |
2: 166,783,394 (GRCm39) |
T783A |
probably damaging |
Het |
Dnajc16 |
T |
C |
4: 141,491,996 (GRCm39) |
Y609C |
probably damaging |
Het |
Doc2g |
A |
G |
19: 4,056,630 (GRCm39) |
T339A |
probably benign |
Het |
Eif5a |
T |
C |
11: 69,808,896 (GRCm39) |
|
probably benign |
Het |
Epha3 |
A |
G |
16: 63,386,940 (GRCm39) |
|
probably null |
Het |
Esco1 |
A |
T |
18: 10,594,355 (GRCm39) |
C310* |
probably null |
Het |
Fam222a |
A |
G |
5: 114,749,101 (GRCm39) |
Y99C |
probably damaging |
Het |
Fzd2 |
T |
C |
11: 102,496,573 (GRCm39) |
L339P |
probably damaging |
Het |
Gfral |
A |
T |
9: 76,104,576 (GRCm39) |
N145K |
probably damaging |
Het |
Gga1 |
T |
A |
15: 78,777,990 (GRCm39) |
N618K |
probably benign |
Het |
Gpatch3 |
T |
A |
4: 133,310,397 (GRCm39) |
H447Q |
probably damaging |
Het |
Gpn1 |
A |
T |
5: 31,666,747 (GRCm39) |
R346* |
probably null |
Het |
Gsg1 |
T |
C |
6: 135,214,558 (GRCm39) |
E317G |
probably benign |
Het |
Gsk3b |
A |
G |
16: 38,004,816 (GRCm39) |
N129S |
probably damaging |
Het |
Hmg20b |
G |
T |
10: 81,184,789 (GRCm39) |
D94E |
possibly damaging |
Het |
Kash5 |
C |
T |
7: 44,849,695 (GRCm39) |
G76D |
probably benign |
Het |
Klhdc9 |
T |
A |
1: 171,187,386 (GRCm39) |
H204L |
possibly damaging |
Het |
Klhl24 |
A |
G |
16: 19,925,638 (GRCm39) |
I55M |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,520,104 (GRCm39) |
D2002G |
probably benign |
Het |
Lama4 |
A |
G |
10: 38,950,742 (GRCm39) |
N1015S |
probably damaging |
Het |
Lpp |
T |
C |
16: 24,580,697 (GRCm39) |
C263R |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,159,216 (GRCm39) |
I1689V |
|
Het |
Mipep |
C |
A |
14: 61,022,284 (GRCm39) |
Q50K |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,257,454 (GRCm39) |
D101G |
probably benign |
Het |
Nabp2 |
C |
G |
10: 128,244,676 (GRCm39) |
E37Q |
possibly damaging |
Het |
Nme6 |
A |
G |
9: 109,671,104 (GRCm39) |
I115V |
possibly damaging |
Het |
Nup93 |
A |
T |
8: 94,970,355 (GRCm39) |
T85S |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,678,975 (GRCm39) |
K331R |
probably benign |
Het |
Pls1 |
T |
A |
9: 95,643,443 (GRCm39) |
T519S |
probably benign |
Het |
Rcn3 |
A |
G |
7: 44,736,118 (GRCm39) |
F197L |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,349,218 (GRCm39) |
T3773I |
|
Het |
Rprd1b |
A |
T |
2: 157,889,877 (GRCm39) |
I153L |
probably benign |
Het |
Scel |
A |
G |
14: 103,829,804 (GRCm39) |
D462G |
possibly damaging |
Het |
Sh3bp1 |
C |
T |
15: 78,794,276 (GRCm39) |
S548L |
possibly damaging |
Het |
Sim1 |
T |
A |
10: 50,860,284 (GRCm39) |
Y715* |
probably null |
Het |
Slc18a2 |
A |
T |
19: 59,282,293 (GRCm39) |
Q500L |
possibly damaging |
Het |
Slc5a8 |
T |
G |
10: 88,722,365 (GRCm39) |
M66R |
probably damaging |
Het |
Slco1a6 |
T |
C |
6: 142,055,246 (GRCm39) |
T233A |
probably damaging |
Het |
Smu1 |
T |
C |
4: 40,739,623 (GRCm39) |
T396A |
probably benign |
Het |
Tas2r104 |
T |
C |
6: 131,662,521 (GRCm39) |
T63A |
possibly damaging |
Het |
Tasor2 |
G |
A |
13: 3,624,979 (GRCm39) |
A1657V |
possibly damaging |
Het |
Top2a |
C |
T |
11: 98,892,199 (GRCm39) |
A1088T |
probably benign |
Het |
Ucp1 |
T |
C |
8: 84,020,577 (GRCm39) |
F129S |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,091,298 (GRCm39) |
D41E |
probably benign |
Het |
Usp10 |
T |
G |
8: 120,681,631 (GRCm39) |
V696G |
probably benign |
Het |
Xylt2 |
C |
T |
11: 94,557,066 (GRCm39) |
V745M |
probably damaging |
Het |
Zbtb49 |
A |
T |
5: 38,373,820 (GRCm39) |
N41K |
probably damaging |
Het |
Zfp109 |
T |
A |
7: 23,928,779 (GRCm39) |
D218V |
probably benign |
Het |
Zfp420 |
G |
A |
7: 29,575,430 (GRCm39) |
R550Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCTGACTGCTGACTCAGG -3'
(R):5'- AGGACGGTGCATTACTCTTGG -3'
Sequencing Primer
(F):5'- TGCTGACTCAGGGGACACTTG -3'
(R):5'- GGTGCATTACTCTTGGCAGTCATAAC -3'
|
Posted On |
2019-06-07 |