Incidental Mutation 'IGL02803:Osgin1'
ID 360318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osgin1
Ensembl Gene ENSMUSG00000074063
Gene Name oxidative stress induced growth inhibitor 1
Synonyms 1700012B18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02803
Quality Score
Status
Chromosome 8
Chromosomal Location 119434124-119446256 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119443267 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 158 (M158V)
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

DomainStartEndE-ValueType
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
AA Change: M158V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126414
Predicted Effect probably benign
Transcript: ENSMUST00000131448
SMART Domains Protein: ENSMUSP00000120477
Gene: ENSMUSG00000074063

DomainStartEndE-ValueType
SCOP:d1foha5 12 38 9e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145604
Predicted Effect probably benign
Transcript: ENSMUST00000152420
AA Change: M158V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000114467
Gene: ENSMUSG00000074063
AA Change: M158V

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 205 465 3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212112
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,252,481 L106F probably benign Het
Appl1 A G 14: 26,951,516 I208T possibly damaging Het
Arap2 G T 5: 62,749,109 A189D probably benign Het
Arhgef12 T C 9: 42,972,028 K1402E possibly damaging Het
C7 A C 15: 5,049,560 F89V probably damaging Het
Camsap2 G A 1: 136,281,123 T877I probably damaging Het
Cpt2 T C 4: 107,907,386 T394A probably benign Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnah10 C A 5: 124,798,014 T2528N probably damaging Het
Entpd8 G T 2: 25,085,139 W494L probably damaging Het
Fam114a1 T A 5: 65,005,792 probably benign Het
Fat4 T C 3: 38,889,295 V779A probably damaging Het
Gckr T C 5: 31,298,204 S34P probably damaging Het
Golga4 T C 9: 118,535,460 V297A probably benign Het
Gpr65 T C 12: 98,275,210 S41P probably damaging Het
Gps1 G T 11: 120,786,823 A221S probably damaging Het
Heatr1 T A 13: 12,433,986 S1861T probably damaging Het
Hmces A G 6: 87,925,729 E184G probably damaging Het
Itfg1 T C 8: 85,725,511 probably null Het
Mkl2 C T 16: 13,403,156 T743I possibly damaging Het
Nfe2l3 A G 6: 51,457,311 S284G possibly damaging Het
Nlrp2 C A 7: 5,328,318 A360S probably damaging Het
Nop9 A G 14: 55,750,076 H298R probably benign Het
Olfr1434 A T 19: 12,283,983 S312C possibly damaging Het
Olfr183 T A 16: 58,999,958 V91E probably benign Het
Olfr522 T C 7: 140,162,374 D192G possibly damaging Het
Patj C A 4: 98,426,064 Q374K probably damaging Het
Pck1 G T 2: 173,156,004 G289W probably damaging Het
Phkg1 T G 5: 129,866,054 I219L possibly damaging Het
Ppp1r15b G A 1: 133,133,343 A533T probably damaging Het
Ppwd1 T C 13: 104,213,684 I398V probably benign Het
Prkdc A G 16: 15,833,666 probably benign Het
Psg25 G A 7: 18,526,287 L229F possibly damaging Het
Rps6ka1 T A 4: 133,880,954 Q24L probably benign Het
Sgk3 T C 1: 9,879,048 I147T possibly damaging Het
Slc25a24 T A 3: 109,155,071 I159N probably damaging Het
Slc26a4 T C 12: 31,522,527 probably null Het
Slc35f4 T C 14: 49,304,257 I347V probably benign Het
Spag17 A T 3: 100,109,397 M2163L probably benign Het
Stab2 C T 10: 86,950,269 probably benign Het
Sult2a8 G A 7: 14,411,705 probably benign Het
Syne2 T C 12: 76,031,546 L4718P probably damaging Het
Timd4 G T 11: 46,815,694 G108W probably damaging Het
Timm9 T C 12: 71,126,374 probably benign Het
Vmn2r98 G A 17: 19,066,013 V258I probably benign Het
Zcchc9 C T 13: 91,800,881 V174I probably benign Het
Zdbf2 T C 1: 63,303,077 V205A possibly damaging Het
Other mutations in Osgin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Osgin1 APN 8 119445046 missense probably damaging 0.97
IGL02347:Osgin1 APN 8 119445538 missense probably benign 0.02
IGL03111:Osgin1 APN 8 119443049 missense probably damaging 0.96
R0137:Osgin1 UTSW 8 119442480 missense possibly damaging 0.73
R0265:Osgin1 UTSW 8 119445657 missense possibly damaging 0.94
R0520:Osgin1 UTSW 8 119442508 missense probably damaging 1.00
R0650:Osgin1 UTSW 8 119445472 missense probably damaging 1.00
R0652:Osgin1 UTSW 8 119445472 missense probably damaging 1.00
R0687:Osgin1 UTSW 8 119445832 missense probably damaging 1.00
R1439:Osgin1 UTSW 8 119443113 splice site probably null
R1469:Osgin1 UTSW 8 119445385 missense possibly damaging 0.95
R1469:Osgin1 UTSW 8 119445385 missense possibly damaging 0.95
R1470:Osgin1 UTSW 8 119444965 missense probably damaging 1.00
R1470:Osgin1 UTSW 8 119444965 missense probably damaging 1.00
R2058:Osgin1 UTSW 8 119445673 missense possibly damaging 0.87
R2982:Osgin1 UTSW 8 119442535 missense probably damaging 1.00
R3880:Osgin1 UTSW 8 119441452 missense probably benign
R4076:Osgin1 UTSW 8 119445033 missense possibly damaging 0.64
R4594:Osgin1 UTSW 8 119445253 missense possibly damaging 0.49
R4914:Osgin1 UTSW 8 119442544 missense possibly damaging 0.91
R4991:Osgin1 UTSW 8 119445289 missense probably damaging 1.00
R5689:Osgin1 UTSW 8 119444989 makesense probably null
R6215:Osgin1 UTSW 8 119445444 missense probably benign 0.01
R7008:Osgin1 UTSW 8 119441494 missense possibly damaging 0.92
R7136:Osgin1 UTSW 8 119441437 start codon destroyed probably null 0.51
R7380:Osgin1 UTSW 8 119445431 missense probably benign 0.44
R7840:Osgin1 UTSW 8 119445034 missense possibly damaging 0.78
R9674:Osgin1 UTSW 8 119445760 missense possibly damaging 0.94
R9689:Osgin1 UTSW 8 119445508 missense possibly damaging 0.60
Posted On 2015-12-18