Incidental Mutation 'IGL03180:Ogg1'
ID 412217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ogg1
Ensembl Gene ENSMUSG00000030271
Gene Name 8-oxoguanine DNA-glycosylase 1
Synonyms Mmh
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # IGL03180
Quality Score
Status
Chromosome 6
Chromosomal Location 113303959-113311149 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 113310455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032406] [ENSMUST00000032409] [ENSMUST00000136263] [ENSMUST00000204834] [ENSMUST00000155543]
AlphaFold O08760
Predicted Effect probably null
Transcript: ENSMUST00000032406
SMART Domains Protein: ENSMUSP00000032406
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 141 4e-38 PFAM
ENDO3c 146 316 4.84e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032409
SMART Domains Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272

DomainStartEndE-ValueType
S_TKc 20 276 5.03e-111 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 358 370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129871
Predicted Effect probably benign
Transcript: ENSMUST00000136263
SMART Domains Protein: ENSMUSP00000144792
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 130 3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147945
SMART Domains Protein: ENSMUSP00000116265
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Blast:ENDO3c 7 75 7e-46 BLAST
PDB:1KO9|A 7 104 1e-55 PDB
SCOP:d1ko9a1 8 82 1e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153067
Predicted Effect probably benign
Transcript: ENSMUST00000204834
SMART Domains Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 134 1.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156512
Predicted Effect probably benign
Transcript: ENSMUST00000155543
SMART Domains Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272

DomainStartEndE-ValueType
Pfam:Pkinase 8 162 1.4e-45 PFAM
Pfam:Pkinase_Tyr 9 162 1.7e-23 PFAM
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 the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to accumulation of 8-hydroxyguanine and altered DNA repair. Mice homozygous for a knock-out allele remain healthy until at least 18 months of age. Mice homozygous for another knock-out allele develop spontaneouslung adenoma/carcinoma at ~1.5 years of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,082,951 (GRCm39) Y321H probably benign Het
Adam28 T A 14: 68,874,883 (GRCm39) I265L probably damaging Het
Adcy8 T C 15: 64,655,799 (GRCm39) D560G possibly damaging Het
Aff3 A G 1: 38,574,743 (GRCm39) M79T probably damaging Het
Ahctf1 A G 1: 179,602,895 (GRCm39) probably null Het
Aspn C T 13: 49,716,991 (GRCm39) R256W probably damaging Het
Birc6 T C 17: 74,966,226 (GRCm39) V4051A probably benign Het
Cfap46 G A 7: 139,183,168 (GRCm39) L2584F unknown Het
Chdh T A 14: 29,756,559 (GRCm39) probably null Het
Clasp1 A G 1: 118,433,255 (GRCm39) T245A probably benign Het
Clec4a1 G A 6: 122,901,777 (GRCm39) V70I probably benign Het
Cpt2 A T 4: 107,764,157 (GRCm39) S536T probably damaging Het
Dnah9 A T 11: 65,777,465 (GRCm39) H3694Q probably damaging Het
Dntt T A 19: 41,017,990 (GRCm39) F38Y probably benign Het
Dync2i1 T C 12: 116,182,485 (GRCm39) S706G probably benign Het
Eif4ebp2 T C 10: 61,269,589 (GRCm39) E117G probably damaging Het
Eif5b T C 1: 38,075,350 (GRCm39) I609T probably damaging Het
Esam G A 9: 37,445,866 (GRCm39) G135S probably damaging Het
Fut7 C A 2: 25,315,465 (GRCm39) A241D possibly damaging Het
Grin2d T A 7: 45,502,753 (GRCm39) K706M probably damaging Het
Grip2 A G 6: 91,762,742 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,220,087 (GRCm39) T22A probably damaging Het
Hadh T C 3: 131,065,533 (GRCm39) I42V probably benign Het
Iqsec3 T A 6: 121,390,467 (GRCm39) probably benign Het
Izumo3 G A 4: 92,034,524 (GRCm39) probably benign Het
Ldlrad1 G T 4: 107,075,032 (GRCm39) C193F probably damaging Het
Lgals4 G A 7: 28,537,053 (GRCm39) G118R probably damaging Het
Map4k1 A C 7: 28,687,510 (GRCm39) E136A probably damaging Het
Mapk8ip1 G T 2: 92,217,257 (GRCm39) P346Q possibly damaging Het
Mrtfb A G 16: 13,216,196 (GRCm39) K303E probably damaging Het
Nlrp14 T A 7: 106,781,833 (GRCm39) H343Q probably benign Het
Or12k8 C T 2: 36,975,722 (GRCm39) V13M possibly damaging Het
Or5m10 A T 2: 85,717,740 (GRCm39) M199L probably benign Het
Pacc1 G T 1: 191,071,089 (GRCm39) V82F probably damaging Het
Pafah1b1 A T 11: 74,574,344 (GRCm39) C281S possibly damaging Het
Papss1 C T 3: 131,313,143 (GRCm39) R386W probably damaging Het
Pex5 A G 6: 124,390,522 (GRCm39) probably benign Het
Pibf1 C A 14: 99,370,780 (GRCm39) Q261K probably benign Het
Plcb3 T C 19: 6,933,521 (GRCm39) S935G probably benign Het
Polg A G 7: 79,101,601 (GRCm39) probably benign Het
Ptpdc1 G A 13: 48,739,553 (GRCm39) T626I probably damaging Het
Rab34 A T 11: 78,081,144 (GRCm39) Y87F probably damaging Het
Rsrc1 T G 3: 66,989,876 (GRCm39) probably benign Het
Ryr2 T C 13: 11,583,449 (GRCm39) N4735S possibly damaging Het
Scn7a T C 2: 66,506,578 (GRCm39) D1437G possibly damaging Het
Sdk1 A G 5: 142,071,497 (GRCm39) E1229G probably damaging Het
Sez6l A T 5: 112,584,151 (GRCm39) V806D probably damaging Het
Sgsm2 A C 11: 74,759,401 (GRCm39) probably null Het
Sla A G 15: 66,661,569 (GRCm39) I121T probably benign Het
Son T C 16: 91,453,896 (GRCm39) L881S probably damaging Het
Srms A G 2: 180,854,573 (GRCm39) probably benign Het
Stoml1 T C 9: 58,168,200 (GRCm39) S304P probably damaging Het
Stt3a T C 9: 36,670,552 (GRCm39) D73G probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Trp53i13 T C 11: 77,403,528 (GRCm39) probably benign Het
Vmn2r77 A G 7: 86,450,843 (GRCm39) Y243C possibly damaging Het
Vwde T C 6: 13,205,764 (GRCm39) D261G probably damaging Het
Zfpm2 A G 15: 40,964,790 (GRCm39) K293R probably damaging Het
Other mutations in Ogg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03171:Ogg1 APN 6 113,310,375 (GRCm39) missense possibly damaging 0.90
R0270:Ogg1 UTSW 6 113,306,217 (GRCm39) missense probably benign 0.00
R0883:Ogg1 UTSW 6 113,305,381 (GRCm39) missense probably damaging 1.00
R2107:Ogg1 UTSW 6 113,306,254 (GRCm39) missense probably damaging 1.00
R3618:Ogg1 UTSW 6 113,305,334 (GRCm39) missense probably damaging 1.00
R3771:Ogg1 UTSW 6 113,310,804 (GRCm39) missense possibly damaging 0.47
R4609:Ogg1 UTSW 6 113,305,393 (GRCm39) missense probably damaging 0.99
R4673:Ogg1 UTSW 6 113,304,268 (GRCm39) missense probably damaging 1.00
R5580:Ogg1 UTSW 6 113,306,337 (GRCm39) missense probably damaging 1.00
R7028:Ogg1 UTSW 6 113,306,237 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02