Incidental Mutation 'R7440:Oit3'
ID 576906
Institutional Source Beutler Lab
Gene Symbol Oit3
Ensembl Gene ENSMUSG00000009654
Gene Name oncoprotein induced transcript 3
Synonyms EF-9
MMRRC Submission 045516-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R7440 (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 59265392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 291 (N291S)
Ref Sequence ENSEMBL: ENSMUSP00000009798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009798]
AlphaFold Q8R4V5
Predicted Effect probably damaging
Transcript: ENSMUST00000009798
AA Change: N291S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: N291S

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 0.2502 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,628,626 (GRCm39) T403I probably damaging Het
Adat1 A T 8: 112,716,530 (GRCm39) M64K probably damaging Het
Adcy2 C T 13: 68,944,786 (GRCm39) V199M probably damaging Het
Ankrd13a T C 5: 114,941,636 (GRCm39) S508P possibly damaging Het
Ap1g1 T A 8: 110,529,356 (GRCm39) probably null Het
Bicral C T 17: 47,136,710 (GRCm39) G167R probably damaging Het
Ccser2 T C 14: 36,620,174 (GRCm39) K727E possibly damaging Het
Cep350 T G 1: 155,816,518 (GRCm39) K332N probably damaging Het
Cfap68 A G 9: 50,676,213 (GRCm39) V35A probably benign Het
Chd5 A G 4: 152,469,108 (GRCm39) N1811S probably benign Het
Chpf A T 1: 75,452,245 (GRCm39) V565D probably damaging Het
Clcn6 A T 4: 148,098,652 (GRCm39) L489H probably damaging Het
Cntln C A 4: 84,981,453 (GRCm39) T877K possibly damaging Het
Cog4 T C 8: 111,606,338 (GRCm39) V630A probably benign Het
Col6a5 G T 9: 105,758,630 (GRCm39) S2192* probably null Het
Cry2 G A 2: 92,243,983 (GRCm39) R397W probably damaging Het
Cstdc2 A C 2: 148,688,911 (GRCm39) C109W probably damaging Het
Cyp1b1 T C 17: 80,020,986 (GRCm39) N252S probably damaging Het
Dhx9 T C 1: 153,356,977 (GRCm39) I91V probably benign Het
Dnajb6 G A 5: 29,962,857 (GRCm39) A256T possibly damaging Het
Epm2a T G 10: 11,266,619 (GRCm39) Y121* probably null Het
Erlec1 T C 11: 30,900,818 (GRCm39) I117V possibly damaging Het
Exoc8 T C 8: 125,622,520 (GRCm39) M616V probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Fuz T C 7: 44,545,996 (GRCm39) L46P probably damaging Het
Insc T C 7: 114,444,278 (GRCm39) S422P possibly damaging Het
Intu A G 3: 40,651,981 (GRCm39) I813V probably benign Het
Jak3 T A 8: 72,133,362 (GRCm39) S352T probably benign Het
Klf11 T C 12: 24,705,490 (GRCm39) S315P probably benign Het
Lrrc63 T C 14: 75,358,453 (GRCm39) N400D possibly damaging Het
Lrrk1 T C 7: 65,940,602 (GRCm39) D760G probably damaging Het
Macf1 A T 4: 123,349,239 (GRCm39) L3976* probably null Het
Map7 C T 10: 20,137,605 (GRCm39) A259V probably damaging Het
Meioc T A 11: 102,565,063 (GRCm39) D170E possibly damaging Het
Mgat5b T A 11: 116,859,271 (GRCm39) Y34* probably null Het
Mgst1 A G 6: 138,127,842 (GRCm39) K68R probably benign Het
Miga1 T A 3: 152,043,683 (GRCm39) probably null Het
Mrps33 G A 6: 39,779,413 (GRCm39) P94L probably damaging Het
Ncapg2 G T 12: 116,414,033 (GRCm39) G1068C possibly damaging Het
Ndufaf7 C T 17: 79,249,546 (GRCm39) H148Y probably damaging Het
Nkx6-3 A T 8: 23,643,770 (GRCm39) D57V probably damaging Het
Nlrp1a T C 11: 70,983,150 (GRCm39) D1272G probably damaging Het
Or1b1 A T 2: 36,995,181 (GRCm39) H160Q possibly damaging Het
Pld1 T G 3: 28,095,419 (GRCm39) S251A probably benign Het
Polr1h T A 17: 37,268,736 (GRCm39) L75F probably benign Het
Potefam3a C T 8: 20,356,948 (GRCm38) S254N unknown Het
Ppfibp1 T C 6: 146,921,001 (GRCm39) S580P probably benign Het
Prdx6b A T 2: 80,123,560 (GRCm39) D123V probably damaging Het
Ptprs A G 17: 56,731,256 (GRCm39) L1050P possibly damaging Het
Rcc1 A C 4: 132,065,110 (GRCm39) S138A probably damaging Het
Rimbp3 G T 16: 17,031,065 (GRCm39) R1496S possibly damaging Het
Sacs T C 14: 61,429,054 (GRCm39) V371A probably benign Het
Sfxn4 A G 19: 60,830,642 (GRCm39) L260P possibly damaging Het
Slc17a1 G A 13: 24,062,466 (GRCm39) S211N possibly damaging Het
Slc39a11 C T 11: 113,452,918 (GRCm39) V8M probably damaging Het
Smpd2 A G 10: 41,365,012 (GRCm39) I78T probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Syt17 A T 7: 117,981,107 (GRCm39) V462E probably damaging Het
Tlr11 T A 14: 50,598,801 (GRCm39) D262E probably benign Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Trpv3 C A 11: 73,168,800 (GRCm39) Q87K probably benign Het
Ugt1a5 T C 1: 88,094,281 (GRCm39) Y170H probably benign Het
Urb1 A G 16: 90,584,296 (GRCm39) L562P probably damaging Het
Usp3 G T 9: 66,437,537 (GRCm39) N299K probably benign Het
Vmn1r83 T C 7: 12,055,556 (GRCm39) Y167C probably damaging Het
Vmn2r117 T A 17: 23,694,539 (GRCm39) Y436F probably benign Het
Vps13d A G 4: 144,854,981 (GRCm39) I2220T Het
Zfp936 T A 7: 42,836,685 (GRCm39) V32D probably damaging Het
Zswim2 A G 2: 83,751,063 (GRCm39) C259R probably damaging 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
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'- GCTCAGGGCAGAAGAAGTTATC -3'
(R):5'- TCATTGACCTGCTTCAAGCC -3'

Sequencing Primer
(F):5'- AAGTTATCTTGTGTAGACCTATCTCC -3'
(R):5'- TTCAAGCCCTTTCCTGGAGAAGAG -3'
Posted On 2019-10-07