Incidental Mutation 'R3612:Gatc'
ID 269253
Institutional Source Beutler Lab
Gene Symbol Gatc
Ensembl Gene ENSMUSG00000029536
Gene Name glutamyl-tRNA amidotransferase subunit C
Synonyms 2010003O18Rik
MMRRC Submission 040672-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R3612 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 115471301-115479220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115473545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 131 (E131D)
Ref Sequence ENSEMBL: ENSMUSP00000115090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031513] [ENSMUST00000139167] [ENSMUST00000149510]
AlphaFold Q8CBY0
Predicted Effect probably benign
Transcript: ENSMUST00000031513
SMART Domains Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538

DomainStartEndE-ValueType
RRM 16 86 3.76e-19 SMART
RRM 113 179 1.19e-7 SMART
low complexity region 187 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139167
AA Change: E131D

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536
AA Change: E131D

DomainStartEndE-ValueType
Pfam:Glu-tRNAGln 69 134 2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144000
Predicted Effect probably benign
Transcript: ENSMUST00000149510
SMART Domains Protein: ENSMUSP00000121845
Gene: ENSMUSG00000029538

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
RRM 54 115 3.04e-2 SMART
low complexity region 123 143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209604
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,580,251 (GRCm39) V192A probably damaging Het
Acsm2 G C 7: 119,190,553 (GRCm39) V90L probably damaging Het
Adam5 T C 8: 25,308,105 (GRCm39) probably benign Het
Ankrd12 A T 17: 66,290,542 (GRCm39) D1630E probably benign Het
Ccdc88c A T 12: 100,905,332 (GRCm39) I1085N probably damaging Het
Cdc42bpb A G 12: 111,270,256 (GRCm39) probably benign Het
Cdh19 A T 1: 110,821,026 (GRCm39) C571S probably damaging Het
Cep290 T A 10: 100,377,443 (GRCm39) L1491* probably null Het
Cherp G A 8: 73,215,840 (GRCm39) probably benign Het
Diaph3 T C 14: 87,274,893 (GRCm39) S188G probably null Het
Ech1 C T 7: 28,529,668 (GRCm39) R34C probably damaging Het
Erc2 T C 14: 27,499,134 (GRCm39) S337P possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fah A G 7: 84,234,498 (GRCm39) V412A probably damaging Het
Glrb A G 3: 80,769,337 (GRCm39) V130A possibly damaging Het
Gm4782 T A 6: 50,585,610 (GRCm39) probably null Het
Klhl1 C T 14: 96,619,206 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo15a G C 11: 60,368,505 (GRCm39) D422H probably damaging Het
Ncapd3 T A 9: 26,961,653 (GRCm39) H360Q probably damaging Het
Or1e22 T C 11: 73,376,766 (GRCm39) R295G probably benign Het
Ppargc1b T C 18: 61,443,627 (GRCm39) N528S probably benign Het
Rprd2 G A 3: 95,671,464 (GRCm39) P1313L probably damaging Het
Slc12a7 C A 13: 73,958,042 (GRCm39) D955E probably benign Het
Slc9a2 G A 1: 40,758,218 (GRCm39) probably null Het
Tex24 T A 8: 27,835,201 (GRCm39) V243D probably benign Het
Vmn2r17 A G 5: 109,577,463 (GRCm39) T505A probably benign Het
Vps37a T C 8: 40,997,977 (GRCm39) probably benign Het
Zmynd19 A G 2: 24,841,492 (GRCm39) Y20C probably damaging Het
Other mutations in Gatc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01535:Gatc APN 5 115,479,048 (GRCm39) missense possibly damaging 0.67
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
R4666:Gatc UTSW 5 115,473,606 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATGTACAGTCTGCTGCGCAC -3'
(R):5'- CACAGCAAGGACTGTTCTGC -3'

Sequencing Primer
(F):5'- GCGCACACCCCTTAATCCTG -3'
(R):5'- AAGGACTGTTCTGCCCCCTAC -3'
Posted On 2015-02-19