Incidental Mutation 'IGL02353:Got1'
ID289554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Got1
Ensembl Gene ENSMUSG00000025190
Gene Nameglutamic-oxaloacetic transaminase 1, soluble
Synonymscytosolic aspartate aminotransferase, cAspAT, Got-1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.672) question?
Stock #IGL02353
Quality Score
Status
Chromosome19
Chromosomal Location43499752-43524605 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43524443 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 5 (S5P)
Ref Sequence ENSEMBL: ENSMUSP00000026196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026196]
Predicted Effect probably damaging
Transcript: ENSMUST00000026196
AA Change: S5P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026196
Gene: ENSMUSG00000025190
AA Change: S5P

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 31 405 1.4e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124954
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,783,467 probably benign Het
Aldh18a1 A T 19: 40,577,920 V102D probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Casp6 C T 3: 129,910,526 S87L probably damaging Het
Ccdc121 T C 1: 181,510,625 E254G possibly damaging Het
Ccnl1 A C 3: 65,948,720 C255G probably damaging Het
Celf4 T C 18: 25,486,898 I485M probably damaging Het
Cntln A G 4: 85,049,850 R769G probably damaging Het
Cyp2d12 T C 15: 82,558,970 V360A probably benign Het
Dgki T C 6: 36,847,389 E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 N607S probably benign Het
Fgd4 T C 16: 16,462,045 I383V probably damaging Het
Fgd6 C T 10: 94,138,396 T1333I possibly damaging Het
Herc2 T A 7: 56,114,812 N995K probably damaging Het
Kcnma1 A G 14: 23,591,613 F159S probably damaging Het
Krt83 T C 15: 101,485,458 S456G probably benign Het
Lhb T C 7: 45,421,294 V32A possibly damaging Het
Mau2 A T 8: 70,019,638 V602E probably damaging Het
Mpst C T 15: 78,410,085 L6F probably damaging Het
Nlrp2 G A 7: 5,337,599 T72I probably damaging Het
Olfr44 A G 9: 39,485,148 I32T probably benign Het
Phldb2 T C 16: 45,748,779 Y1239C probably damaging Het
Slc22a8 T C 19: 8,608,255 F328S possibly damaging Het
Spns1 C T 7: 126,375,140 R94Q probably damaging Het
Sult2a3 G A 7: 14,121,650 R94* probably null Het
Syt16 A G 12: 74,129,471 N38S probably damaging Het
Tbc1d1 G A 5: 64,256,836 R180Q probably damaging Het
Ush2a T C 1: 188,728,438 I2632T probably benign Het
Vcam1 T A 3: 116,115,894 I595F 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
IGL01431:Got1 APN 19 43503049 nonsense probably null
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
IGL02360:Got1 APN 19 43524443 missense probably damaging 1.00
IGL02726:Got1 APN 19 43500412 unclassified 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
Posted On2015-04-16