Incidental Mutation 'IGL02094:Got1l1'
ID 279527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Got1l1
Ensembl Gene ENSMUSG00000039720
Gene Name glutamic-oxaloacetic transaminase 1-like 1
Synonyms 1700083M11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02094
Quality Score
Status
Chromosome 8
Chromosomal Location 27687487-27713856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27689873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 171 (V171A)
Ref Sequence ENSEMBL: ENSMUSP00000041337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038174] [ENSMUST00000209299]
AlphaFold Q7TSV6
Predicted Effect probably benign
Transcript: ENSMUST00000038174
AA Change: V171A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041337
Gene: ENSMUSG00000039720
AA Change: V171A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,324,480 (GRCm39) N658S possibly damaging Het
Adcy10 T C 1: 165,398,189 (GRCm39) Y1429H probably damaging Het
Aebp1 G A 11: 5,818,357 (GRCm39) M98I probably benign Het
Arl3 T C 19: 46,546,780 (GRCm39) D15G probably benign Het
Casp2 T A 6: 42,257,293 (GRCm39) I414N probably damaging Het
Ceacam1 T C 7: 25,173,968 (GRCm39) D229G probably damaging Het
Cog7 G T 7: 121,562,470 (GRCm39) A234E probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp3a59 A T 5: 146,041,631 (GRCm39) T392S probably benign Het
Ebf2 G A 14: 67,472,689 (GRCm39) V36M possibly damaging Het
Fbxw15 A C 9: 109,387,308 (GRCm39) V229G possibly damaging Het
Itgax A G 7: 127,730,645 (GRCm39) Y121C probably damaging Het
Kcng4 C A 8: 120,359,960 (GRCm39) A139S probably damaging Het
Kcnj9 G T 1: 172,153,275 (GRCm39) T283K probably damaging Het
Mgl2 T A 11: 70,027,923 (GRCm39) I377K possibly damaging Het
Myo15a T C 11: 60,401,473 (GRCm39) probably benign Het
Nod1 A T 6: 54,916,375 (GRCm39) probably null Het
Nr1h5 A T 3: 102,859,512 (GRCm39) C182* probably null Het
Nup210l G T 3: 90,087,520 (GRCm39) probably null Het
Ptbp2 G A 3: 119,546,589 (GRCm39) probably benign Het
Ptpn13 T G 5: 103,742,483 (GRCm39) F2401V probably damaging Het
Rbbp6 T C 7: 122,596,485 (GRCm39) S676P probably damaging Het
Recql4 T A 15: 76,593,717 (GRCm39) Q131L probably benign Het
Sbno2 G A 10: 79,893,479 (GRCm39) P1274L probably benign Het
Sec24c T C 14: 20,738,470 (GRCm39) V341A probably damaging Het
Smc1b A T 15: 84,982,092 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,050,659 (GRCm39) H2310R probably benign Het
Tas2r109 T A 6: 132,957,202 (GRCm39) I243F possibly damaging Het
Trpc1 A C 9: 95,625,334 (GRCm39) D97E probably damaging Het
Trpm2 G A 10: 77,778,830 (GRCm39) Q379* probably null Het
Ttn A G 2: 76,649,167 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,610,669 (GRCm39) F8I probably benign Het
Zfp36 C T 7: 28,077,188 (GRCm39) S240N probably benign Het
Zfp65 A G 13: 67,856,304 (GRCm39) I325T possibly damaging Het
Other mutations in Got1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Got1l1 APN 8 27,688,019 (GRCm39) missense probably damaging 1.00
IGL03155:Got1l1 APN 8 27,689,360 (GRCm39) missense probably damaging 1.00
IGL03395:Got1l1 APN 8 27,690,885 (GRCm39) missense probably benign 0.00
R0026:Got1l1 UTSW 8 27,690,276 (GRCm39) missense probably benign 0.00
R1086:Got1l1 UTSW 8 27,688,007 (GRCm39) missense probably damaging 1.00
R1403:Got1l1 UTSW 8 27,690,745 (GRCm39) splice site probably null
R1403:Got1l1 UTSW 8 27,690,745 (GRCm39) splice site probably null
R2349:Got1l1 UTSW 8 27,687,959 (GRCm39) missense probably benign 0.09
R3413:Got1l1 UTSW 8 27,689,864 (GRCm39) critical splice donor site probably null
R4513:Got1l1 UTSW 8 27,688,513 (GRCm39) missense probably benign 0.27
R4514:Got1l1 UTSW 8 27,688,513 (GRCm39) missense probably benign 0.27
R5686:Got1l1 UTSW 8 27,688,087 (GRCm39) missense probably damaging 1.00
R5979:Got1l1 UTSW 8 27,687,951 (GRCm39) splice site probably null
R6023:Got1l1 UTSW 8 27,689,932 (GRCm39) nonsense probably null
R6229:Got1l1 UTSW 8 27,688,464 (GRCm39) splice site probably null
R7635:Got1l1 UTSW 8 27,687,962 (GRCm39) missense probably damaging 1.00
R8101:Got1l1 UTSW 8 27,690,330 (GRCm39) missense possibly damaging 0.68
R8104:Got1l1 UTSW 8 27,687,619 (GRCm39) missense probably damaging 1.00
R8298:Got1l1 UTSW 8 27,688,586 (GRCm39) missense probably benign 0.09
R8792:Got1l1 UTSW 8 27,690,749 (GRCm39) critical splice donor site probably null
R9089:Got1l1 UTSW 8 27,690,889 (GRCm39) missense probably damaging 1.00
R9526:Got1l1 UTSW 8 27,688,503 (GRCm39) missense probably benign 0.07
Posted On 2015-04-16