Incidental Mutation 'IGL01020:Oat'
ID53694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oat
Ensembl Gene ENSMUSG00000030934
Gene Nameornithine aminotransferase
Synonymsrhg
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.699) question?
Stock #IGL01020
Quality Score
Status
Chromosome7
Chromosomal Location132557478-132576398 bp(-) (GRCm38)
Type of Mutationunclassified (2841 bp from exon)
DNA Base Change (assembly) T to C at 132567173 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084500] [ENSMUST00000124096] [ENSMUST00000211545]
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: 177,130,967 probably benign Het
Aldh18a1 C T 19: 40,569,181 probably benign Het
Arhgap32 A G 9: 32,257,361 H880R probably benign Het
Arhgef7 G A 8: 11,782,540 S5N probably damaging Het
Atp6v1e1 T C 6: 120,808,411 M40V possibly damaging Het
Atr T C 9: 95,862,783 V51A probably damaging Het
Atxn10 A G 15: 85,375,422 probably null Het
Btbd16 T A 7: 130,824,361 I502N probably damaging Het
Casc4 G A 2: 121,925,722 V411I probably benign Het
Celsr2 G T 3: 108,403,270 L1499M probably damaging Het
Cfl1 C T 19: 5,493,681 probably benign Het
Cul9 T C 17: 46,539,023 E500G probably damaging Het
Dusp3 G T 11: 101,984,644 N31K probably benign Het
Erbb4 A T 1: 68,298,449 probably benign Het
Fam234b G A 6: 135,211,906 V170M probably benign Het
Fign A G 2: 63,979,010 S639P probably damaging Het
Gbp7 A G 3: 142,542,857 T294A probably benign Het
Ift80 C T 3: 68,963,679 D195N probably damaging Het
Kif21b G T 1: 136,154,094 probably benign Het
Kif2c A T 4: 117,166,904 F397I probably damaging Het
Lamc3 T C 2: 31,914,656 V567A probably benign Het
Letmd1 T C 15: 100,471,759 M36T probably damaging Het
Lrp1b A G 2: 40,998,247 W2220R probably damaging Het
Mical2 T A 7: 112,315,076 probably benign Het
Mtif2 A G 11: 29,544,973 D691G possibly damaging Het
Myh8 G A 11: 67,283,403 V189M probably damaging Het
Myo9b G A 8: 71,352,000 R1418K probably benign Het
Nkpd1 G A 7: 19,518,749 V7M possibly damaging Het
Nrxn2 G A 19: 6,493,443 V1116I probably benign Het
Nynrin A G 14: 55,868,448 M875V probably benign Het
Olfr855 G A 9: 19,585,320 S261N possibly damaging Het
Olfr938 A C 9: 39,078,451 I98R probably damaging Het
Prkaa2 C T 4: 105,075,462 R63Q probably damaging Het
Psg29 T A 7: 17,208,732 S219R probably benign Het
Ptprc T C 1: 138,120,173 probably null Het
Pwwp2b G T 7: 139,254,855 E71* probably null Het
Robo2 T C 16: 73,928,151 T1055A probably benign Het
Serpina9 T A 12: 104,008,586 N103Y probably damaging Het
Sis T C 3: 72,966,838 E10G probably damaging Het
Tbck C T 3: 132,727,142 Q438* probably null Het
Thnsl1 T C 2: 21,212,494 L353S probably damaging Het
Tmem237 C A 1: 59,107,453 probably null Het
Tuba3a C T 6: 125,281,340 R229H probably damaging Het
Zbtb2 A G 10: 4,369,702 I108T probably benign Het
Zfp345 T C 2: 150,473,047 N190S possibly damaging Het
Other mutations in Oat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02697:Oat APN 7 132569955 unclassified probably null
P0042:Oat UTSW 7 132562645 missense possibly damaging 0.93
R1279:Oat UTSW 7 132567080 missense probably damaging 1.00
R1528:Oat UTSW 7 132564269 missense probably damaging 1.00
R1602:Oat UTSW 7 132570007 missense probably benign
R1938:Oat UTSW 7 132558205 missense probably benign 0.01
R4899:Oat UTSW 7 132564222 missense probably benign 0.41
R5729:Oat UTSW 7 132558255 missense probably damaging 1.00
Posted On2013-06-28