Incidental Mutation 'IGL01535:Gatc'
ID 89929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gatc
Ensembl Gene ENSMUSG00000029536
Gene Name glutamyl-tRNA amidotransferase subunit C
Synonyms 2010003O18Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # IGL01535
Quality Score
Status
Chromosome 5
Chromosomal Location 115471301-115479220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115479048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 54 (V54E)
Ref Sequence ENSEMBL: ENSMUSP00000115090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031508] [ENSMUST00000040154] [ENSMUST00000139167]
AlphaFold Q8CBY0
Predicted Effect probably benign
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 possibly damaging
Transcript: ENSMUST00000139167
AA Change: V54E

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536
AA Change: V54E

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,101,891 (GRCm39) S654T probably benign Het
Brd10 T C 19: 29,731,212 (GRCm39) H600R possibly damaging Het
Cacnb3 A T 15: 98,537,469 (GRCm39) Q49L probably benign Het
Dapk1 A G 13: 60,878,845 (GRCm39) probably benign Het
Dop1b T A 16: 93,566,846 (GRCm39) L1091* probably null Het
Epb42 A G 2: 120,858,169 (GRCm39) V263A probably damaging Het
Fig4 T G 10: 41,132,490 (GRCm39) S439R probably benign Het
Hook2 T C 8: 85,729,618 (GRCm39) L686P probably benign Het
Med12l A T 3: 59,169,680 (GRCm39) T1615S probably damaging Het
Msr1 C T 8: 40,064,714 (GRCm39) G320D probably benign Het
Nbeal1 T A 1: 60,256,414 (GRCm39) F220I probably damaging Het
Or14j2 T A 17: 37,885,679 (GRCm39) I212F possibly damaging Het
Or2l5 G A 16: 19,334,228 (GRCm39) H53Y probably benign Het
Pcdh10 A T 3: 45,334,078 (GRCm39) I131F probably damaging Het
Phlpp2 A G 8: 110,660,697 (GRCm39) E784G possibly damaging Het
Prr36 A T 8: 4,264,043 (GRCm39) probably benign Het
Ptprq G A 10: 107,535,457 (GRCm39) S436L probably benign Het
Rock1 T A 18: 10,132,119 (GRCm39) probably benign Het
Sash1 T G 10: 8,617,341 (GRCm39) T522P probably damaging Het
Serpinb2 T C 1: 107,447,503 (GRCm39) probably null Het
Supt16 T C 14: 52,414,647 (GRCm39) K422E probably damaging Het
Syt14 T G 1: 192,669,073 (GRCm39) D60A probably damaging Het
Tbc1d2b A C 9: 90,097,526 (GRCm39) probably benign Het
Thsd7b T C 1: 129,605,954 (GRCm39) I565T possibly damaging Het
Ttn A G 2: 76,564,536 (GRCm39) Y28534H probably damaging Het
Vmn1r177 T A 7: 23,565,765 (GRCm39) H37L probably damaging Het
Vps13b A T 15: 35,455,103 (GRCm39) N671Y possibly damaging Het
Other mutations in Gatc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Gatc APN 5 115,479,076 (GRCm39) nonsense probably null
R1022:Gatc UTSW 5 115,478,904 (GRCm39) splice site probably null
R1024:Gatc UTSW 5 115,478,904 (GRCm39) splice site probably null
R3153:Gatc UTSW 5 115,473,546 (GRCm39) missense probably benign 0.24
R3612:Gatc UTSW 5 115,473,545 (GRCm39) missense probably benign 0.42
R4666:Gatc UTSW 5 115,473,606 (GRCm39) missense probably benign 0.01
Posted On 2013-12-03