Incidental Mutation 'IGL01020:Oat'
ID 53694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oat
Ensembl Gene ENSMUSG00000030934
Gene Name ornithine aminotransferase
Synonyms rhg
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # IGL01020
Quality Score
Status
Chromosome 7
Chromosomal Location 132159207-132178127 bp(-) (GRCm39)
Type of Mutation splice site (2841 bp from exon)
DNA Base Change (assembly) T to C at 132168902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084500] [ENSMUST00000124096] [ENSMUST00000211545]
AlphaFold P29758
Predicted Effect probably benign
Transcript: ENSMUST00000084500
AA Change: D106G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081544
Gene: ENSMUSG00000030934
AA Change: D106G

DomainStartEndE-ValueType
Pfam:Aminotran_3 50 436 3.6e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000211545
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 mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
PHENOTYPE: Null mutants show neonatal hypoornithinemia and increased mortality prevented by administering arginine. Homozygotes for a spontaneous G353A point mutation have neonatal hypoornithinemia, adult hyperornithinemia, growth retardation, retarded fur development, cataracts, and retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 T G 1: 176,958,533 (GRCm39) probably benign Het
Aldh18a1 C T 19: 40,557,625 (GRCm39) probably benign Het
Arhgap32 A G 9: 32,168,657 (GRCm39) H880R probably benign Het
Arhgef7 G A 8: 11,832,540 (GRCm39) S5N probably damaging Het
Atp6v1e1 T C 6: 120,785,372 (GRCm39) M40V possibly damaging Het
Atr T C 9: 95,744,836 (GRCm39) V51A probably damaging Het
Atxn10 A G 15: 85,259,623 (GRCm39) probably null Het
Btbd16 T A 7: 130,426,091 (GRCm39) I502N probably damaging Het
Celsr2 G T 3: 108,310,586 (GRCm39) L1499M probably damaging Het
Cfl1 C T 19: 5,543,709 (GRCm39) probably benign Het
Cul9 T C 17: 46,849,949 (GRCm39) E500G probably damaging Het
Dusp3 G T 11: 101,875,470 (GRCm39) N31K probably benign Het
Erbb4 A T 1: 68,337,608 (GRCm39) probably benign Het
Fam234b G A 6: 135,188,904 (GRCm39) V170M probably benign Het
Fign A G 2: 63,809,354 (GRCm39) S639P probably damaging Het
Gbp7 A G 3: 142,248,618 (GRCm39) T294A probably benign Het
Golm2 G A 2: 121,756,203 (GRCm39) V411I probably benign Het
Ift80 C T 3: 68,871,012 (GRCm39) D195N probably damaging Het
Kif21b G T 1: 136,081,832 (GRCm39) probably benign Het
Kif2c A T 4: 117,024,101 (GRCm39) F397I probably damaging Het
Lamc3 T C 2: 31,804,668 (GRCm39) V567A probably benign Het
Letmd1 T C 15: 100,369,640 (GRCm39) M36T probably damaging Het
Lrp1b A G 2: 40,888,259 (GRCm39) W2220R probably damaging Het
Mical2 T A 7: 111,914,283 (GRCm39) probably benign Het
Mtif2 A G 11: 29,494,973 (GRCm39) D691G possibly damaging Het
Myh8 G A 11: 67,174,229 (GRCm39) V189M probably damaging Het
Myo9b G A 8: 71,804,644 (GRCm39) R1418K probably benign Het
Nkpd1 G A 7: 19,252,674 (GRCm39) V7M possibly damaging Het
Nrxn2 G A 19: 6,543,473 (GRCm39) V1116I probably benign Het
Nynrin A G 14: 56,105,905 (GRCm39) M875V probably benign Het
Or7g35 G A 9: 19,496,616 (GRCm39) S261N possibly damaging Het
Or8g24 A C 9: 38,989,747 (GRCm39) I98R probably damaging Het
Prkaa2 C T 4: 104,932,659 (GRCm39) R63Q probably damaging Het
Psg29 T A 7: 16,942,657 (GRCm39) S219R probably benign Het
Ptprc T C 1: 138,047,911 (GRCm39) probably null Het
Pwwp2b G T 7: 138,834,771 (GRCm39) E71* probably null Het
Robo2 T C 16: 73,725,039 (GRCm39) T1055A probably benign Het
Serpina9 T A 12: 103,974,845 (GRCm39) N103Y probably damaging Het
Sis T C 3: 72,874,171 (GRCm39) E10G probably damaging Het
Tbck C T 3: 132,432,903 (GRCm39) Q438* probably null Het
Thnsl1 T C 2: 21,217,305 (GRCm39) L353S probably damaging Het
Tmem237 C A 1: 59,146,612 (GRCm39) probably null Het
Tuba3a C T 6: 125,258,303 (GRCm39) R229H probably damaging Het
Zbtb2 A G 10: 4,319,702 (GRCm39) I108T probably benign Het
Zfp345 T C 2: 150,314,967 (GRCm39) N190S possibly damaging Het
Other mutations in Oat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02697:Oat APN 7 132,171,684 (GRCm39) splice site probably null
P0042:Oat UTSW 7 132,164,374 (GRCm39) missense possibly damaging 0.93
R1279:Oat UTSW 7 132,168,809 (GRCm39) missense probably damaging 1.00
R1528:Oat UTSW 7 132,165,998 (GRCm39) missense probably damaging 1.00
R1602:Oat UTSW 7 132,171,736 (GRCm39) missense probably benign
R1938:Oat UTSW 7 132,159,934 (GRCm39) missense probably benign 0.01
R4899:Oat UTSW 7 132,165,951 (GRCm39) missense probably benign 0.41
R5729:Oat UTSW 7 132,159,984 (GRCm39) missense probably damaging 1.00
R7270:Oat UTSW 7 132,168,927 (GRCm39) missense probably benign
R7639:Oat UTSW 7 132,168,530 (GRCm39) missense probably damaging 1.00
R7718:Oat UTSW 7 132,159,988 (GRCm39) missense probably benign 0.03
R7902:Oat UTSW 7 132,161,393 (GRCm39) missense probably benign 0.02
R9149:Oat UTSW 7 132,166,006 (GRCm39) missense probably benign 0.02
Posted On 2013-06-28