Incidental Mutation 'R4748:Oit3'
ID 357310
Institutional Source Beutler Lab
Gene Symbol Oit3
Ensembl Gene ENSMUSG00000009654
Gene Name oncoprotein induced transcript 3
Synonyms EF-9
MMRRC Submission 042030-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R4748 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 59258782-59277601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59259904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 500 (C500S)
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

DomainStartEndE-ValueType
Pfam:PLA2G12 12 195 1.5e-89 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000009798
AA Change: C500S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: C500S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162493
Predicted Effect probably benign
Transcript: ENSMUST00000162643
SMART Domains Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646

DomainStartEndE-ValueType
Pfam:PLA2G12 1 77 1.7e-36 PFAM
low complexity region 90 101 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,784,394 (GRCm39) E54D possibly damaging Het
Abcb6 C A 1: 75,154,002 (GRCm39) G367W probably damaging Het
Asprv1 A G 6: 86,605,405 (GRCm39) M84V probably damaging Het
Aspscr1 T C 11: 120,592,333 (GRCm39) V291A probably damaging Het
B4galnt4 T C 7: 140,651,633 (GRCm39) F980L probably damaging Het
Bpi G A 2: 158,113,941 (GRCm39) V280I possibly damaging Het
Bptf T C 11: 106,986,706 (GRCm39) D581G probably damaging Het
Cap2 T A 13: 46,793,302 (GRCm39) Y223N possibly damaging Het
Ccdc141 A C 2: 76,888,324 (GRCm39) I480M possibly damaging Het
Ccn4 C A 15: 66,778,489 (GRCm39) Y103* probably null Het
Ccnh T A 13: 85,337,758 (GRCm39) V35E probably benign Het
Cd6 G T 19: 10,771,589 (GRCm39) S433* probably null Het
Ceacam10 A C 7: 24,480,477 (GRCm39) I83L probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Chia1 A T 3: 106,029,765 (GRCm39) D73V probably damaging Het
Commd2 G A 3: 57,554,215 (GRCm39) T162I probably benign Het
Creb3l3 C T 10: 80,921,881 (GRCm39) A316T probably benign Het
Cul4a A G 8: 13,173,526 (GRCm39) K1R probably benign Het
Cyp2c23 T C 19: 44,005,176 (GRCm39) probably null Het
D630045J12Rik T C 6: 38,173,776 (GRCm39) T131A possibly damaging Het
Dctn4 A C 18: 60,683,308 (GRCm39) K295N probably damaging Het
Dnah1 A G 14: 31,041,902 (GRCm39) V23A probably benign Het
Dync1i1 A G 6: 5,767,048 (GRCm39) K91E possibly damaging Het
Dzip1l A G 9: 99,524,704 (GRCm39) D275G probably damaging Het
Enam C A 5: 88,649,402 (GRCm39) P304T probably damaging Het
Enpep A G 3: 129,125,812 (GRCm39) Y107H probably damaging Het
Exd2 T C 12: 80,527,350 (GRCm39) L27P probably damaging Het
Fam135b T A 15: 71,335,904 (GRCm39) D430V probably benign Het
Fam222b C T 11: 78,045,429 (GRCm39) T202I possibly damaging Het
Fmod T A 1: 133,968,912 (GRCm39) N317K probably damaging Het
Frem2 A G 3: 53,448,514 (GRCm39) F2301L probably damaging Het
Frem3 T C 8: 81,338,088 (GRCm39) F127S probably damaging Het
Gbp7 A G 3: 142,243,848 (GRCm39) S132G probably benign Het
Gm4787 A G 12: 81,424,830 (GRCm39) C443R probably damaging Het
Grik2 T C 10: 49,411,437 (GRCm39) M5V possibly damaging Het
Helb T C 10: 119,920,754 (GRCm39) D1063G probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt90 G A 15: 101,463,768 (GRCm39) L429F probably damaging Het
Lrr1 C A 12: 69,221,236 (GRCm39) T126K probably benign Het
Mgat4e C A 1: 134,469,766 (GRCm39) D93Y probably damaging Het
Mllt3 A T 4: 87,759,018 (GRCm39) S343R possibly damaging Het
Mms19 T A 19: 41,932,997 (GRCm39) S1031C probably damaging Het
Mtrf1 C T 14: 79,649,090 (GRCm39) H237Y probably damaging Het
Nckap1l T A 15: 103,381,483 (GRCm39) L408Q probably damaging Het
Or11g1 T G 14: 50,651,333 (GRCm39) L111V possibly damaging Het
Or13c3 A G 4: 52,856,076 (GRCm39) S146P possibly damaging Het
Or4a39 C T 2: 89,236,599 (GRCm39) V275I probably benign Het
Or5d36 T A 2: 87,900,956 (GRCm39) I257L probably benign Het
Otud7a T C 7: 63,385,663 (GRCm39) S376P possibly damaging Het
Pabpc2 A T 18: 39,907,322 (GRCm39) K196* probably null Het
Paqr8 T A 1: 21,005,637 (GRCm39) C264S probably benign Het
Pgm1 T A 4: 99,839,176 (GRCm39) F459Y probably benign Het
Phip C A 9: 82,790,922 (GRCm39) V675L probably benign Het
Pnma1 T G 12: 84,194,497 (GRCm39) T69P probably benign Het
Ppp1r14bl T C 1: 23,140,951 (GRCm39) E121G probably damaging Het
Ptpn12 A T 5: 21,210,383 (GRCm39) C242* probably null Het
Rabep1 T A 11: 70,799,294 (GRCm39) V306E probably benign Het
Ros1 C T 10: 51,992,093 (GRCm39) D1377N probably benign Het
Ryr3 T C 2: 112,794,750 (GRCm39) T121A possibly damaging Het
Scaf11 G A 15: 96,318,302 (GRCm39) Q421* probably null Het
Shcbp1 G A 8: 4,794,512 (GRCm39) T427M probably damaging Het
Shprh G A 10: 11,046,220 (GRCm39) R979H probably damaging Het
Slc22a27 C T 19: 7,903,241 (GRCm39) C163Y probably benign Het
Slc27a1 A G 8: 72,033,319 (GRCm39) D287G probably damaging Het
Slc27a1 C T 8: 72,033,453 (GRCm39) T310M possibly damaging Het
Slc29a3 A G 10: 60,552,105 (GRCm39) V313A probably benign Het
Slc35f2 A T 9: 53,679,069 (GRCm39) M1L probably benign Het
Sltm G C 9: 70,488,647 (GRCm39) R599T probably damaging Het
Spic T A 10: 88,511,752 (GRCm39) Q168L probably damaging Het
Spink6 G A 18: 44,215,428 (GRCm39) probably null Het
Stac2 T C 11: 97,932,198 (GRCm39) E235G possibly damaging Het
Szt2 G A 4: 118,246,388 (GRCm39) Q957* probably null Het
Them7 A T 2: 105,208,991 (GRCm39) T104S possibly damaging Het
Tmed4 T A 11: 6,221,716 (GRCm39) I207F possibly damaging Het
Tmem248 A G 5: 130,265,731 (GRCm39) E178G probably benign Het
Tomm40l G A 1: 171,047,131 (GRCm39) R296* probably null Het
Trim80 C A 11: 115,338,964 (GRCm39) T598N possibly damaging Het
Trim9 T C 12: 70,295,047 (GRCm39) N688D probably damaging Het
Vil1 C T 1: 74,460,425 (GRCm39) A194V probably damaging Het
Vmn2r61 A T 7: 41,916,565 (GRCm39) M393L probably damaging Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Vps33b G T 7: 79,939,796 (GRCm39) A516S probably damaging Het
Zc3h6 G A 2: 128,844,160 (GRCm39) G235R probably damaging Het
Zfp612 T A 8: 110,815,304 (GRCm39) D170E probably benign Het
Zfp746 A G 6: 48,041,490 (GRCm39) I412T probably benign 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
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'- CTCTGATGTCTCTGAGGACACAG -3'
(R):5'- GTGTGGACTGGGCAATTTCC -3'

Sequencing Primer
(F):5'- CTCTGAGGACACAGGAAGTCGTTC -3'
(R):5'- GGACTGGGCAATTTCCTTATCCTAAG -3'
Posted On 2015-11-11