Incidental Mutation 'IGL01431:Got1'
ID 84121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Got1
Ensembl Gene ENSMUSG00000025190
Gene Name glutamic-oxaloacetic transaminase 1, soluble
Synonyms cytosolic aspartate aminotransferase, cAspAT, Got-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01431
Quality Score
Status
Chromosome 19
Chromosomal Location 43499752-43524605 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 43503049 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 321 (K321*)
Ref Sequence ENSEMBL: ENSMUSP00000026196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026196]
AlphaFold P05201
Predicted Effect probably null
Transcript: ENSMUST00000026196
AA Change: K321*
SMART Domains Protein: ENSMUSP00000026196
Gene: ENSMUSG00000025190
AA Change: K321*

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 31 405 1.4e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132504
Predicted Effect probably benign
Transcript: ENSMUST00000133325
SMART Domains Protein: ENSMUSP00000117986
Gene: ENSMUSG00000025190

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 1 181 7.2e-39 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,225,395 probably benign Het
Adamts7 A G 9: 90,207,785 I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 V90M possibly damaging Het
Atf6 T C 1: 170,853,002 probably benign Het
Cdh3 T C 8: 106,547,669 Y607H probably damaging Het
Cer1 T A 4: 82,882,831 E198D probably benign Het
Dscam A G 16: 96,652,078 probably null Het
Ecel1 C T 1: 87,151,504 R484H probably damaging Het
Entpd7 C A 19: 43,729,839 H575Q probably benign Het
F11r T C 1: 171,462,909 V279A probably damaging Het
Gm17093 T A 14: 44,521,665 probably benign Het
Gpn1 T C 5: 31,507,538 V302A probably benign Het
Hivep1 G T 13: 42,158,017 K1244N probably damaging Het
Idh3b T C 2: 130,281,897 T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 probably benign Het
Mybl1 G T 1: 9,672,647 L579I probably damaging Het
Myh14 T A 7: 44,614,358 T1694S probably null Het
Mylk3 T C 8: 85,336,401 D537G probably damaging Het
Myo1d A C 11: 80,674,839 F387V probably damaging Het
Nek9 T C 12: 85,314,587 Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 probably benign Het
Retreg2 T A 1: 75,145,105 probably null Het
Ripply3 G A 16: 94,328,543 C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 probably benign Het
Rrm1 C A 7: 102,457,552 probably benign Het
Rsad2 T A 12: 26,448,667 R269S probably benign Het
Sbp A T 17: 23,945,348 probably benign Het
Schip1 A T 3: 68,617,777 Q162L probably damaging Het
Senp1 T C 15: 98,082,263 Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 R233K probably damaging Het
Smoc1 C A 12: 81,152,751 S220* probably null Het
Stab1 C A 14: 31,148,995 R1299I probably benign Het
Stk17b A G 1: 53,765,915 probably benign Het
Tmc7 T G 7: 118,552,762 D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 T1591K possibly damaging Het
Other mutations in Got1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Got1 APN 19 43504609 missense possibly damaging 0.72
IGL01404:Got1 APN 19 43504609 missense possibly damaging 0.72
IGL01476:Got1 APN 19 43524409 missense probably damaging 1.00
IGL01688:Got1 APN 19 43524336 critical splice donor site probably null
IGL01977:Got1 APN 19 43515845 missense probably benign 0.00
IGL02353:Got1 APN 19 43524443 missense probably damaging 1.00
IGL02360:Got1 APN 19 43524443 missense probably damaging 1.00
IGL02726:Got1 APN 19 43500412 splice site probably null
F5770:Got1 UTSW 19 43500561 unclassified probably benign
R0128:Got1 UTSW 19 43524377 missense probably benign
R0245:Got1 UTSW 19 43504507 splice site probably benign
R0578:Got1 UTSW 19 43515783 missense probably benign 0.01
R1116:Got1 UTSW 19 43502974 nonsense probably null
R1927:Got1 UTSW 19 43515680 critical splice donor site probably null
R4516:Got1 UTSW 19 43504841 missense probably damaging 1.00
R4774:Got1 UTSW 19 43502906 critical splice donor site probably null
R4785:Got1 UTSW 19 43502937 missense possibly damaging 0.80
R5463:Got1 UTSW 19 43504597 missense probably benign 0.03
R6612:Got1 UTSW 19 43504803 missense probably damaging 1.00
R7556:Got1 UTSW 19 43503030 missense probably damaging 1.00
R7659:Got1 UTSW 19 43504639 missense probably benign 0.00
Posted On 2013-11-11