Incidental Mutation 'IGL03395:Got1l1'
ID421226
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 #IGL03395
Quality Score
Status
Chromosome8
Chromosomal Location27197459-27223828 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 27200857 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 54 (H54Q)
Ref Sequence ENSEMBL: ENSMUSP00000041337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038174] [ENSMUST00000209299]
Predicted Effect probably benign
Transcript: ENSMUST00000038174
AA Change: H54Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041337
Gene: ENSMUSG00000039720
AA Change: H54Q

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
6430531B16Rik G T 7: 139,976,676 probably benign Het
9330182L06Rik A T 5: 9,422,359 Q352L probably damaging Het
Adam11 A G 11: 102,772,920 D308G probably damaging Het
Adgrg3 A T 8: 95,035,073 I155F probably damaging Het
Ado T C 10: 67,548,538 Y79C probably benign Het
Aox1 T C 1: 58,068,725 probably benign Het
Bicd2 T A 13: 49,375,258 D165E probably damaging Het
Ccdc124 A C 8: 70,868,607 M163R probably benign Het
Ceacam5 T C 7: 17,745,379 probably benign Het
Cenpq A G 17: 40,923,558 L247P probably damaging Het
Crat A G 2: 30,404,966 V479A probably benign Het
Egfr T C 11: 16,910,261 probably benign Het
Emc9 C T 14: 55,584,740 A72T probably benign Het
Fbxo5 G A 10: 5,801,935 S226F probably benign Het
Gm42688 A C 6: 83,108,371 E737D possibly damaging Het
Grid2 G A 6: 63,909,069 V150I possibly damaging Het
Klc4 C T 17: 46,632,863 V506M probably damaging Het
Lrrc8c A G 5: 105,606,629 N90S probably benign Het
Lrrk2 T A 15: 91,797,414 probably null Het
Mbd6 G A 10: 127,283,417 R950C probably damaging Het
Nol11 A G 11: 107,175,722 V414A probably benign Het
Olfr18 A T 9: 20,314,551 M123K probably damaging Het
Pcnt T C 10: 76,436,491 E177G possibly damaging Het
Pcnx2 G T 8: 125,887,523 D396E probably benign Het
Pcyt2 A T 11: 120,613,050 probably null Het
Pds5a T C 5: 65,652,449 D390G possibly damaging Het
Pik3r2 T C 8: 70,772,355 T155A probably benign Het
Rab31 T A 17: 65,696,367 H95L probably benign Het
Rfx5 C T 3: 94,957,802 R259* probably null Het
Slc6a17 T C 3: 107,477,306 D285G probably damaging Het
Spats2l A T 1: 57,938,016 I318F probably damaging Het
Tcf12 A G 9: 71,876,022 S361P probably damaging Het
Other mutations in Got1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Got1l1 APN 8 27197991 missense probably damaging 1.00
IGL02094:Got1l1 APN 8 27199845 missense probably benign 0.10
IGL03155:Got1l1 APN 8 27199332 missense probably damaging 1.00
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 On2016-08-02