Incidental Mutation 'IGL01774:Gatc'
ID154052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gatc
Ensembl Gene ENSMUSG00000029536
Gene Nameglutamyl-tRNA(Gln) amidotransferase, subunit C
Synonyms2010003O18Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.676) question?
Stock #IGL01774
Quality Score
Status
Chromosome5
Chromosomal Location115333239-115341178 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 115341017 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 45 (Q45*)
Ref Sequence ENSEMBL: ENSMUSP00000115090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031508] [ENSMUST00000040154] [ENSMUST00000139167]
Predicted Effect probably null
Transcript: ENSMUST00000031508
SMART Domains Protein: ENSMUSP00000031508
Gene: ENSMUSG00000029535

DomainStartEndE-ValueType
Pfam:UPF0203 1 70 1.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040154
SMART Domains Protein: ENSMUSP00000047661
Gene: ENSMUSG00000041697

DomainStartEndE-ValueType
Pfam:COX6A 24 105 2.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137766
Predicted Effect probably null
Transcript: ENSMUST00000139167
AA Change: Q45*
SMART Domains Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536
AA Change: Q45*

DomainStartEndE-ValueType
Pfam:Glu-tRNAGln 69 134 2e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,477,835 D708G probably damaging Het
Abca16 T C 7: 120,421,801 probably benign Het
Abcc5 T C 16: 20,378,457 D674G probably damaging Het
Abr A G 11: 76,464,299 probably benign Het
Arfgef3 A G 10: 18,743,615 I4T possibly damaging Het
Btla A G 16: 45,250,548 N290S possibly damaging Het
Catip C A 1: 74,368,483 R325S probably damaging Het
Cep120 A G 18: 53,706,830 L786P possibly damaging Het
Cnot8 A G 11: 58,115,307 I221V probably benign Het
Eloc A T 1: 16,645,789 D37E probably benign Het
Fabp12 A C 3: 10,247,694 N89K probably benign Het
Ficd G T 5: 113,739,012 R416L probably damaging Het
Frmd3 T C 4: 74,187,838 Y574H probably damaging Het
Frmd4a T C 2: 4,535,236 probably benign Het
Gm5414 T C 15: 101,626,975 D225G probably benign Het
Itpkc G T 7: 27,212,370 A592E probably benign Het
Kl G T 5: 150,988,483 V566L probably benign Het
Lpin1 T A 12: 16,558,476 D545V probably damaging Het
Mtcl1 T C 17: 66,385,885 Y483C probably damaging Het
Neb C T 2: 52,222,970 W67* probably null Het
Nrarp T C 2: 25,181,286 V59A possibly damaging Het
Nuf2 G A 1: 169,506,072 T345M probably benign Het
Olfr659 T C 7: 104,670,942 I80T probably benign Het
Pacs2 T A 12: 113,056,842 H278Q probably benign Het
Pot1a T C 6: 25,753,277 K420R probably benign Het
Rag2 A G 2: 101,630,047 Y234C probably damaging Het
Ralgds C T 2: 28,550,542 Q88* probably null Het
Rictor T C 15: 6,769,777 S365P probably damaging Het
Slco1a1 G A 6: 141,925,613 Q276* probably null Het
Tas2r134 C T 2: 51,628,148 T213I probably benign Het
Tecpr1 A G 5: 144,211,540 I349T probably damaging Het
Tnxb T C 17: 34,688,839 S1286P probably damaging Het
Trafd1 A G 5: 121,375,050 V375A possibly damaging Het
Vmn2r110 T A 17: 20,583,627 I229L probably benign Het
Vnn1 T C 10: 23,900,710 Y320H probably benign Het
Zfp990 T C 4: 145,536,948 V172A probably benign Het
Other mutations in Gatc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01535:Gatc APN 5 115340989 missense possibly damaging 0.67
R1022:Gatc UTSW 5 115340845 splice site probably null
R1024:Gatc UTSW 5 115340845 splice site probably null
R3153:Gatc UTSW 5 115335487 missense probably benign 0.24
R3612:Gatc UTSW 5 115335486 missense probably benign 0.42
R4666:Gatc UTSW 5 115335547 missense probably benign 0.01
Posted On2014-02-04