Incidental Mutation 'IGL01392:Got1l1'
ID79253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Got1l1
Ensembl Gene ENSMUSG00000039720
Gene Nameglutamic-oxaloacetic transaminase 1-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01392
Quality Score
Status
Chromosome8
Chromosomal Location27197459-27223828 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27197991 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 337 (T337A)
Ref Sequence ENSEMBL: ENSMUSP00000041337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038174] [ENSMUST00000209299]
Predicted Effect probably damaging
Transcript: ENSMUST00000038174
AA Change: T337A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041337
Gene: ENSMUSG00000039720
AA Change: T337A

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 32 395 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209281
Predicted Effect probably benign
Transcript: ENSMUST00000209299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211002
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Got1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02094:Got1l1 APN 8 27199845 missense probably benign 0.10
IGL03155:Got1l1 APN 8 27199332 missense probably damaging 1.00
IGL03395:Got1l1 APN 8 27200857 missense probably benign 0.00
R0026:Got1l1 UTSW 8 27200248 missense probably benign 0.00
R1086:Got1l1 UTSW 8 27197979 missense probably damaging 1.00
R1403:Got1l1 UTSW 8 27200717 splice site probably null
R1403:Got1l1 UTSW 8 27200717 splice site probably null
R2349:Got1l1 UTSW 8 27197931 missense probably benign 0.09
R3413:Got1l1 UTSW 8 27199836 critical splice donor site probably null
R4513:Got1l1 UTSW 8 27198485 missense probably benign 0.27
R4514:Got1l1 UTSW 8 27198485 missense probably benign 0.27
R5686:Got1l1 UTSW 8 27198059 missense probably damaging 1.00
R5979:Got1l1 UTSW 8 27197923 splice site probably null
R6023:Got1l1 UTSW 8 27199904 nonsense probably null
R6229:Got1l1 UTSW 8 27198436 splice site probably null
R7635:Got1l1 UTSW 8 27197934 missense probably damaging 1.00
R8101:Got1l1 UTSW 8 27200302 missense possibly damaging 0.68
R8104:Got1l1 UTSW 8 27197591 missense probably damaging 1.00
R8298:Got1l1 UTSW 8 27198558 missense probably benign 0.09
Posted On2013-11-05