Incidental Mutation 'R2349:Got1l1'
ID 247389
Institutional Source Beutler Lab
Gene Symbol Got1l1
Ensembl Gene ENSMUSG00000039720
Gene Name glutamic-oxaloacetic transaminase 1-like 1
Synonyms 1700083M11Rik
MMRRC Submission 040331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2349 (G1)
Quality Score 181
Status Validated
Chromosome 8
Chromosomal Location 27687487-27713856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27687959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 357 (T357A)
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: T357A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041337
Gene: ENSMUSG00000039720
AA Change: T357A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,105,415 (GRCm39) K77E probably damaging Het
Arfgef2 T A 2: 166,693,948 (GRCm39) I507N probably damaging Het
Atg16l2 T C 7: 100,945,746 (GRCm39) K231E probably damaging Het
C1s1 C A 6: 124,518,432 (GRCm39) probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cntrl A G 2: 35,066,263 (GRCm39) T1739A probably benign Het
Col15a1 G A 4: 47,306,742 (GRCm39) M289I probably damaging Het
Crebbp G A 16: 3,956,774 (GRCm39) R350C probably damaging Het
Dbx2 A G 15: 95,522,840 (GRCm39) V289A probably benign Het
Esam A C 9: 37,439,527 (GRCm39) Q4P probably benign Het
Galnt1 A G 18: 24,413,085 (GRCm39) M462V probably benign Het
Gpr182 T A 10: 127,586,806 (GRCm39) K48N probably damaging Het
Hdlbp A G 1: 93,349,956 (GRCm39) probably benign Het
Ifi209 G A 1: 173,470,122 (GRCm39) V237M probably damaging Het
Igf2r A T 17: 12,941,198 (GRCm39) probably null Het
Jmjd1c T C 10: 67,091,279 (GRCm39) M2520T probably benign Het
Krt222 A G 11: 99,129,591 (GRCm39) probably benign Het
Nkx2-9 A G 12: 56,659,007 (GRCm39) L69P probably benign Het
Papss1 A G 3: 131,305,627 (GRCm39) D203G probably benign Het
Pex13 A G 11: 23,605,789 (GRCm39) M147T probably damaging Het
Pkd1l1 A T 11: 8,776,819 (GRCm39) probably null Het
Rac2 A G 15: 78,449,675 (GRCm39) V85A possibly damaging Het
Rock2 A G 12: 17,027,616 (GRCm39) N127S probably benign Het
Sfswap C T 5: 129,646,802 (GRCm39) R875C possibly damaging Het
Slco5a1 C T 1: 12,991,376 (GRCm39) V438M probably damaging Het
Thsd4 A G 9: 59,879,798 (GRCm39) Y620H probably benign Het
Trip4 T C 9: 65,773,844 (GRCm39) D246G probably benign Het
Usp10 T C 8: 120,683,448 (GRCm39) *88R probably null Het
Vars1 A G 17: 35,234,728 (GRCm39) I1186V probably benign Het
Vps13c A G 9: 67,864,808 (GRCm39) D3039G possibly damaging Het
Wwp1 A T 4: 19,638,644 (GRCm39) N566K possibly damaging Het
Xpo6 A T 7: 125,712,875 (GRCm39) V701E probably benign Het
Other mutations in Got1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Got1l1 APN 8 27,688,019 (GRCm39) missense probably damaging 1.00
IGL02094:Got1l1 APN 8 27,689,873 (GRCm39) missense probably benign 0.10
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
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
Predicted Primers PCR Primer
(F):5'- CAGAATTCCTCTCAAGACCATGGG -3'
(R):5'- GGCCTTTGCAGTCCAGTTTC -3'

Sequencing Primer
(F):5'- CCTCTCAAGACCATGGGGGAAG -3'
(R):5'- GCAGTCCAGTTTCCTGCTC -3'
Posted On 2014-11-11