Incidental Mutation 'IGL02697:Oat'
ID 303972
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 # IGL02697
Quality Score
Status
Chromosome 7
Chromosomal Location 132159207-132178127 bp(-) (GRCm39)
Type of Mutation splice site (59 bp from exon)
DNA Base Change (assembly) A to T at 132171684 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 null
Transcript: ENSMUST00000084500
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000081544
Gene: ENSMUSG00000030934
AA Change: Y50*

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 (GRCm39) N345K probably damaging Het
Atp13a5 T A 16: 29,167,350 (GRCm39) H151L probably benign Het
C2cd3 T C 7: 100,076,376 (GRCm39) probably benign Het
Cep57l1 G T 10: 41,598,950 (GRCm39) P212T possibly damaging Het
Coch G A 12: 51,643,821 (GRCm39) A135T probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cul5 A G 9: 53,566,631 (GRCm39) S134P probably benign Het
Cyp4f14 T C 17: 33,124,597 (GRCm39) T485A probably damaging Het
Dennd3 T C 15: 73,396,085 (GRCm39) F198S possibly damaging Het
Dennd5a C A 7: 109,493,988 (GRCm39) A1239S probably damaging Het
Dhx8 T C 11: 101,645,607 (GRCm39) I822T probably damaging Het
Dnah5 A T 15: 28,445,289 (GRCm39) M4142L probably benign Het
Dyrk4 T A 6: 126,875,971 (GRCm39) N88I possibly damaging Het
Emc1 T C 4: 139,079,955 (GRCm39) F9L probably benign Het
Gga1 A G 15: 78,769,546 (GRCm39) E173G probably damaging Het
H1f7 T C 15: 98,155,050 (GRCm39) K33R probably benign Het
Hepacam2 A T 6: 3,476,036 (GRCm39) H296Q possibly damaging Het
Ipo9 G T 1: 135,318,314 (GRCm39) Q699K probably benign Het
Jmy A T 13: 93,596,209 (GRCm39) Y473* probably null Het
Kdm5b A T 1: 134,516,511 (GRCm39) probably benign Het
Kit A G 5: 75,767,919 (GRCm39) S101G probably benign Het
Krtap4-9 T A 11: 99,676,574 (GRCm39) V165E unknown Het
Lnpep T A 17: 17,773,455 (GRCm39) M639L probably benign Het
Lrp10 C T 14: 54,707,154 (GRCm39) P664S probably damaging Het
Nrde2 A T 12: 100,097,466 (GRCm39) L778H probably damaging Het
Pfkl A T 10: 77,835,752 (GRCm39) S219T probably benign Het
Phtf1 C T 3: 103,904,879 (GRCm39) A509V probably benign Het
Pigz T A 16: 31,763,577 (GRCm39) probably null Het
Pltp T A 2: 164,682,446 (GRCm39) Y344F probably benign Het
Ppp6r2 A G 15: 89,140,958 (GRCm39) Y107C probably benign Het
Ptprk A G 10: 28,451,614 (GRCm39) D1034G possibly damaging Het
Rell1 C T 5: 64,084,354 (GRCm39) V221I probably damaging Het
Skint5 A G 4: 113,336,910 (GRCm39) F1429S probably benign Het
Slc22a28 T A 19: 8,094,491 (GRCm39) T177S probably benign Het
Stxbp5 G T 10: 9,638,700 (GRCm39) S1033* probably null Het
Tgs1 A G 4: 3,585,564 (GRCm39) D147G probably benign Het
Thumpd3 T A 6: 113,044,256 (GRCm39) N423K probably benign Het
Tns3 G T 11: 8,442,346 (GRCm39) D672E probably benign Het
Vmn2r61 T A 7: 41,924,892 (GRCm39) V482E possibly damaging Het
Vmn2r72 G T 7: 85,387,879 (GRCm39) Q562K probably benign Het
Zan T C 5: 137,398,810 (GRCm39) T4185A unknown Het
Other mutations in Oat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Oat APN 7 132,168,902 (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 2015-04-16