Incidental Mutation 'R7512:Oit3'
ID 582161
Institutional Source Beutler Lab
Gene Symbol Oit3
Ensembl Gene ENSMUSG00000009654
Gene Name oncoprotein induced transcript 3
Synonyms EF-9
MMRRC Submission 045585-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R7512 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 59258782-59277601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59274716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 28 (Y28C)
Ref Sequence ENSEMBL: ENSMUSP00000009798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009798]
AlphaFold Q8R4V5
Predicted Effect probably damaging
Transcript: ENSMUST00000009798
AA Change: Y28C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: Y28C

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6600 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,829,275 (GRCm39) A1395T probably benign Het
Ank3 A G 10: 69,826,691 (GRCm39) K1787E Het
Atg2a C T 19: 6,310,106 (GRCm39) A1763V probably damaging Het
Bdp1 T C 13: 100,187,457 (GRCm39) I1637V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Ccnt2 T A 1: 127,730,031 (GRCm39) S303T possibly damaging Het
Cdh3 C T 8: 107,265,640 (GRCm39) Q228* probably null Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dock2 A C 11: 34,262,542 (GRCm39) C938G possibly damaging Het
Dync1i1 G T 6: 5,969,410 (GRCm39) V412L possibly damaging Het
Eif1ad6 G T 12: 87,668,751 (GRCm39) E128* probably null Het
Entrep2 C T 7: 64,805,918 (GRCm39) A52T probably benign Het
Fam185a G A 5: 21,652,356 (GRCm39) probably null Het
Fcho1 A G 8: 72,169,507 (GRCm39) L133P possibly damaging Het
Galnt12 G A 4: 47,108,406 (GRCm39) R181H possibly damaging Het
Gen1 A G 12: 11,310,977 (GRCm39) V85A possibly damaging Het
Gm12185 A T 11: 48,806,717 (GRCm39) I158K probably benign Het
Gm5624 T C 14: 44,799,312 (GRCm39) R82G Het
Grap2 A C 15: 80,532,754 (GRCm39) N307T probably benign Het
H6pd A G 4: 150,080,405 (GRCm39) F147L probably benign Het
Haspin A T 11: 73,027,418 (GRCm39) I557N probably damaging Het
Hectd4 A T 5: 121,435,172 (GRCm39) K961N possibly damaging Het
Helz2 A G 2: 180,872,647 (GRCm39) M2495T probably benign Het
Helz2 A T 2: 180,877,393 (GRCm39) probably null Het
Impdh1 T C 6: 29,207,168 (GRCm39) I59V probably benign Het
Kcnn1 A T 8: 71,307,293 (GRCm39) L200Q possibly damaging Het
Kif5c T A 2: 49,590,977 (GRCm39) H276Q probably damaging Het
Kntc1 T C 5: 123,929,001 (GRCm39) L1259P probably damaging Het
Krtap4-1 A T 11: 99,518,859 (GRCm39) C50* probably null Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lrrc41 A G 4: 115,950,191 (GRCm39) T535A possibly damaging Het
Ly75 A T 2: 60,164,907 (GRCm39) V757D probably damaging Het
Masp1 C A 16: 23,288,874 (GRCm39) R642L probably damaging Het
Morn3 A G 5: 123,175,343 (GRCm39) probably null Het
Mpl A T 4: 118,306,089 (GRCm39) I384N Het
Mtmr14 C T 6: 113,245,652 (GRCm39) Q409* probably null Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Or2z8 T A 8: 72,812,367 (GRCm39) I281N probably damaging Het
Or4x12-ps1 A G 2: 89,916,040 (GRCm39) I255T possibly damaging Het
Or5ac22 T A 16: 59,135,390 (GRCm39) N127Y probably damaging Het
Pcdh15 T C 10: 74,477,214 (GRCm39) Y186H possibly damaging Het
Pcdhgb1 T A 18: 37,815,418 (GRCm39) D636E probably damaging Het
Pdgfra A T 5: 75,355,675 (GRCm39) R1062* probably null Het
Pds5b T C 5: 150,711,807 (GRCm39) F922L probably damaging Het
Pip5k1c G A 10: 81,150,953 (GRCm39) probably null Het
Ppp2r3d T C 9: 101,052,532 (GRCm39) T226A possibly damaging Het
Ptprh G A 7: 4,574,780 (GRCm39) T413I possibly damaging Het
Rora C A 9: 69,281,367 (GRCm39) D382E probably benign Het
Sacs T A 14: 61,441,879 (GRCm39) N1308K probably benign Het
Sgce C T 6: 4,707,192 (GRCm39) D218N possibly damaging Het
Slc34a3 A T 2: 25,122,253 (GRCm39) probably null Het
Slit1 T C 19: 41,589,074 (GRCm39) Y1471C probably damaging Het
Smarca2 G T 19: 26,661,209 (GRCm39) V935L possibly damaging Het
Smchd1 T C 17: 71,688,364 (GRCm39) N1298S possibly damaging Het
Sort1 T A 3: 108,233,323 (GRCm39) probably null Het
Spata13 T C 14: 60,989,226 (GRCm39) L964P probably damaging Het
Spata31h1 G A 10: 82,128,469 (GRCm39) L1514F probably benign Het
Trav7-6 C A 14: 53,954,552 (GRCm39) D47E probably benign Het
Ubap2l A G 3: 89,917,803 (GRCm39) F864L unknown Het
Vmn2r102 C T 17: 19,914,363 (GRCm39) P643S probably damaging Het
Zfp112 T A 7: 23,824,604 (GRCm39) C195S possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Oit3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7495:Oit3 UTSW 10 59,259,765 (GRCm39) missense possibly damaging 0.74
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'- TTGAGCCAGACAGGAGCATG -3'
(R):5'- TGCCACTTTTGCAAAGGTAAC -3'

Sequencing Primer
(F):5'- GCATGGGTCCCACAGTGATTTTC -3'
(R):5'- ACCATAGGCTGATATTGATCCGG -3'
Posted On 2019-10-17