Incidental Mutation 'R1469:Osgin1'
ID 164764
Institutional Source Beutler Lab
Gene Symbol Osgin1
Ensembl Gene ENSMUSG00000074063
Gene Name oxidative stress induced growth inhibitor 1
Synonyms 1700012B18Rik
MMRRC Submission 039522-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R1469 (G1)
Quality Score 224
Status Not validated
Chromosome 8
Chromosomal Location 119434124-119446256 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119445385 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 306 (R306L)
Ref Sequence ENSEMBL: ENSMUSP00000114467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098363] [ENSMUST00000098365] [ENSMUST00000131448] [ENSMUST00000152420] [ENSMUST00000212112]
AlphaFold Q8VC10
Predicted Effect probably benign
Transcript: ENSMUST00000098363
SMART Domains Protein: ENSMUSP00000095966
Gene: ENSMUSG00000031837

low complexity region 50 66 N/A INTRINSIC
EFh 67 95 4.06e-2 SMART
EFh 101 129 3.21e0 SMART
low complexity region 185 196 N/A INTRINSIC
Pfam:ABM 289 363 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126414
Predicted Effect probably benign
Transcript: ENSMUST00000131448
SMART Domains Protein: ENSMUSP00000120477
Gene: ENSMUSG00000074063

SCOP:d1foha5 12 38 9e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145604
Predicted Effect possibly damaging
Transcript: ENSMUST00000152420
AA Change: R306L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114467
Gene: ENSMUSG00000074063
AA Change: R306L

Pfam:Pyr_redox_2 205 465 3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212112
Meta Mutation Damage Score 0.1496 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 95.3%
  • 10x: 69.3%
  • 20x: 30.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,891,679 (GRCm38) V261E probably damaging Het
Abca15 A G 7: 120,382,497 (GRCm38) E1058G probably benign Het
Abcb5 T G 12: 118,867,946 (GRCm38) I1224L possibly damaging Het
Actn4 A G 7: 28,905,328 (GRCm38) V348A probably benign Het
Agtr1b A T 3: 20,315,500 (GRCm38) L314H probably damaging Het
Ankrd55 T C 13: 112,367,926 (GRCm38) M402T probably benign Het
Asap2 A G 12: 21,213,179 (GRCm38) Q265R probably benign Het
Atp2b4 G A 1: 133,706,939 (GRCm38) R1124C probably damaging Het
Atp2c1 A T 9: 105,435,152 (GRCm38) C353* probably null Het
Atp8b5 T A 4: 43,291,733 (GRCm38) probably null Het
Baz1b T A 5: 135,217,979 (GRCm38) Y761N probably damaging Het
Bend6 A G 1: 33,864,743 (GRCm38) V38A probably benign Het
Camk1g T C 1: 193,362,091 (GRCm38) E5G possibly damaging Het
Ccdc14 T A 16: 34,706,782 (GRCm38) H352Q probably damaging Het
Cdh2 A G 18: 16,624,267 (GRCm38) V641A possibly damaging Het
Celsr2 C A 3: 108,414,108 (GRCm38) D463Y probably damaging Het
Cfap43 A G 19: 47,896,875 (GRCm38) Y434H probably damaging Het
Cnih2 T C 19: 5,093,702 (GRCm38) Y142C probably damaging Het
Coa5 T A 1: 37,420,600 (GRCm38) R71* probably null Het
Csmd3 A T 15: 47,669,202 (GRCm38) Y2532* probably null Het
Cytl1 A T 5: 37,735,647 (GRCm38) M34L probably benign Het
Dctn1 T A 6: 83,192,889 (GRCm38) I590N probably damaging Het
Dhx57 T C 17: 80,254,418 (GRCm38) H889R probably damaging Het
Dock10 A G 1: 80,512,558 (GRCm38) I1948T probably benign Het
Dock3 A T 9: 106,955,709 (GRCm38) N1034K probably benign Het
Dzip1l G A 9: 99,659,776 (GRCm38) probably null Het
Eif4g1 T A 16: 20,680,008 (GRCm38) V439E possibly damaging Het
Eml5 T C 12: 98,858,823 (GRCm38) I712V probably benign Het
Entrep1 G A 19: 23,973,606 (GRCm38) T537I probably benign Het
Epha3 C T 16: 63,653,494 (GRCm38) G300D probably damaging Het
Erbb4 A C 1: 68,560,682 (GRCm38) S79A probably damaging Het
Gclc T C 9: 77,781,137 (GRCm38) V205A probably benign Het
Gdpd4 A G 7: 97,974,466 (GRCm38) probably null Het
Gm11564 C T 11: 99,815,232 (GRCm38) C124Y unknown Het
Gm16494 T C 17: 47,016,844 (GRCm38) E38G probably damaging Het
Gtf2h1 T C 7: 46,805,125 (GRCm38) probably null Het
Gtsf2 G T 15: 103,441,217 (GRCm38) R68S probably benign Het
Heatr5b T C 17: 78,808,384 (GRCm38) Q881R probably damaging Het
Hmox1 C A 8: 75,098,835 (GRCm38) L236I probably benign Het
Ighv8-12 T C 12: 115,648,343 (GRCm38) I7V probably benign Het
Izumo1 T C 7: 45,623,013 (GRCm38) S73P probably damaging Het
Kifbp A T 10: 62,559,450 (GRCm38) F471Y probably damaging Het
Knl1 A G 2: 119,071,346 (GRCm38) N1176S possibly damaging Het
Mecom A T 3: 29,980,048 (GRCm38) L493Q probably damaging Het
Mprip T C 11: 59,759,190 (GRCm38) V1240A probably damaging Het
Mrpl3 T C 9: 105,077,002 (GRCm38) S302P probably damaging Het
Mycbp2 T C 14: 103,188,520 (GRCm38) T2390A probably damaging Het
Myo1c T C 11: 75,669,961 (GRCm38) S766P probably damaging Het
Myo9b A G 8: 71,291,036 (GRCm38) Q247R probably damaging Het
Nav3 G A 10: 109,760,508 (GRCm38) T1423I probably damaging Het
Nefh A T 11: 4,940,066 (GRCm38) I851N probably benign Het
Nup98 T C 7: 102,138,801 (GRCm38) T1004A probably benign Het
Olfr175-ps1 G A 16: 58,824,610 (GRCm38) T33I probably benign Het
Or1e17 T C 11: 73,940,557 (GRCm38) F104L probably benign Het
Or1e22 G A 11: 73,486,323 (GRCm38) S167L possibly damaging Het
Or5p76 T C 7: 108,523,204 (GRCm38) T249A probably benign Het
Otof A G 5: 30,380,227 (GRCm38) L1246P probably benign Het
Pde8a T A 7: 81,302,271 (GRCm38) N273K probably damaging Het
Phf14 T A 6: 11,933,727 (GRCm38) M196K possibly damaging Het
Pkd1l3 T C 8: 109,646,953 (GRCm38) S1374P possibly damaging Het
Pkhd1l1 T C 15: 44,536,886 (GRCm38) V2142A probably benign Het
Plb1 A G 5: 32,354,826 (GRCm38) E1318G possibly damaging Het
Plekhh2 A G 17: 84,575,771 (GRCm38) I756V probably benign Het
Primpol A G 8: 46,593,637 (GRCm38) V208A probably benign Het
Ptch2 C A 4: 117,108,465 (GRCm38) A389E probably benign Het
Pzp A G 6: 128,512,356 (GRCm38) Y431H probably benign Het
Rnf43 G A 11: 87,731,407 (GRCm38) G445R probably damaging Het
Scn5a A T 9: 119,533,661 (GRCm38) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 (GRCm38) probably benign Het
Shisa9 T A 16: 11,985,071 (GRCm38) M164K probably damaging Het
Skint1 A G 4: 112,025,511 (GRCm38) I251V probably benign Het
Slc16a14 C T 1: 84,929,461 (GRCm38) D31N probably damaging Het
Slc22a13 T C 9: 119,193,295 (GRCm38) S548G possibly damaging Het
Slc4a9 T C 18: 36,531,101 (GRCm38) F316L probably benign Het
Smchd1 C T 17: 71,349,730 (GRCm38) R1914H probably damaging Het
Snx16 C T 3: 10,434,371 (GRCm38) D200N probably damaging Het
Spock3 A G 8: 62,951,900 (GRCm38) D34G probably damaging Het
Sspo T C 6: 48,490,982 (GRCm38) C4154R probably damaging Het
Sytl3 C T 17: 6,687,324 (GRCm38) A131V probably benign Het
Tacc1 T A 8: 25,182,255 (GRCm38) D319V probably benign Het
Tead1 A T 7: 112,876,184 (GRCm38) K234I probably damaging Het
Tgfbrap1 C T 1: 43,075,458 (GRCm38) V161I probably benign Het
Tnfaip3 A G 10: 19,008,269 (GRCm38) V121A probably damaging Het
Tnnt2 A G 1: 135,852,055 (GRCm38) T297A possibly damaging Het
Trappc11 G A 8: 47,503,965 (GRCm38) L809F probably damaging Het
Ttn T C 2: 76,771,525 (GRCm38) I18598V probably benign Het
Ugt1a10 G A 1: 88,216,254 (GRCm38) A199T probably damaging Het
Unc5a A G 13: 54,996,419 (GRCm38) N186D probably damaging Het
Uqcrfs1 C A 13: 30,540,801 (GRCm38) G252V probably damaging Het
Vmn2r115 T C 17: 23,346,018 (GRCm38) I293T probably damaging Het
Vmn2r9 T C 5: 108,843,828 (GRCm38) T556A probably benign Het
Ythdc2 T A 18: 44,864,462 (GRCm38) Y1029N probably benign Het
Zfp451 T A 1: 33,769,813 (GRCm38) K989M possibly damaging Het
Zfpm1 C T 8: 122,335,846 (GRCm38) T548M probably damaging Het
Other mutations in Osgin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Osgin1 APN 8 119,445,046 (GRCm38) missense probably damaging 0.97
IGL02347:Osgin1 APN 8 119,445,538 (GRCm38) missense probably benign 0.02
IGL02803:Osgin1 APN 8 119,443,267 (GRCm38) missense probably benign 0.00
IGL03111:Osgin1 APN 8 119,443,049 (GRCm38) missense probably damaging 0.96
R0137:Osgin1 UTSW 8 119,442,480 (GRCm38) missense possibly damaging 0.73
R0265:Osgin1 UTSW 8 119,445,657 (GRCm38) missense possibly damaging 0.94
R0520:Osgin1 UTSW 8 119,442,508 (GRCm38) missense probably damaging 1.00
R0650:Osgin1 UTSW 8 119,445,472 (GRCm38) missense probably damaging 1.00
R0652:Osgin1 UTSW 8 119,445,472 (GRCm38) missense probably damaging 1.00
R0687:Osgin1 UTSW 8 119,445,832 (GRCm38) missense probably damaging 1.00
R1439:Osgin1 UTSW 8 119,443,113 (GRCm38) splice site probably null
R1469:Osgin1 UTSW 8 119,445,385 (GRCm38) missense possibly damaging 0.95
R1470:Osgin1 UTSW 8 119,444,965 (GRCm38) missense probably damaging 1.00
R1470:Osgin1 UTSW 8 119,444,965 (GRCm38) missense probably damaging 1.00
R2058:Osgin1 UTSW 8 119,445,673 (GRCm38) missense possibly damaging 0.87
R2982:Osgin1 UTSW 8 119,442,535 (GRCm38) missense probably damaging 1.00
R3880:Osgin1 UTSW 8 119,441,452 (GRCm38) missense probably benign
R4076:Osgin1 UTSW 8 119,445,033 (GRCm38) missense possibly damaging 0.64
R4594:Osgin1 UTSW 8 119,445,253 (GRCm38) missense possibly damaging 0.49
R4914:Osgin1 UTSW 8 119,442,544 (GRCm38) missense possibly damaging 0.91
R4991:Osgin1 UTSW 8 119,445,289 (GRCm38) missense probably damaging 1.00
R5689:Osgin1 UTSW 8 119,444,989 (GRCm38) makesense probably null
R6215:Osgin1 UTSW 8 119,445,444 (GRCm38) missense probably benign 0.01
R7008:Osgin1 UTSW 8 119,441,494 (GRCm38) missense possibly damaging 0.92
R7136:Osgin1 UTSW 8 119,441,437 (GRCm38) start codon destroyed probably null 0.51
R7380:Osgin1 UTSW 8 119,445,431 (GRCm38) missense probably benign 0.44
R7840:Osgin1 UTSW 8 119,445,034 (GRCm38) missense possibly damaging 0.78
R9674:Osgin1 UTSW 8 119,445,760 (GRCm38) missense possibly damaging 0.94
R9689:Osgin1 UTSW 8 119,445,508 (GRCm38) missense possibly damaging 0.60
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-28