Incidental Mutation 'R5118:Gatd1'
ID 392742
Institutional Source Beutler Lab
Gene Symbol Gatd1
Ensembl Gene ENSMUSG00000051007
Gene Name glutamine amidotransferase like class 1 domain containing 1
Synonyms Pddc1, D230016J19Rik
MMRRC Submission 042706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5118 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140988097-140994038 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 140986719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026576] [ENSMUST00000106008] [ENSMUST00000211654]
AlphaFold Q8BFQ8
Predicted Effect probably benign
Transcript: ENSMUST00000026576
SMART Domains Protein: ENSMUSP00000026576
Gene: ENSMUSG00000025503

DomainStartEndE-ValueType
Pfam:Transaldolase 24 326 1.2e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106008
SMART Domains Protein: ENSMUSP00000101630
Gene: ENSMUSG00000051007

DomainStartEndE-ValueType
PDB:1U9C|A 29 220 7e-10 PDB
SCOP:d1g2ia_ 54 206 7e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156353
Predicted Effect probably benign
Transcript: ENSMUST00000211654
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adamts2 A G 11: 50,672,696 (GRCm39) E648G probably damaging Het
Ankrd55 A G 13: 112,492,473 (GRCm39) S187G probably benign Het
Cd44 C A 2: 102,695,715 (GRCm39) E52D probably damaging Het
Col6a5 T A 9: 105,814,204 (GRCm39) I603F unknown Het
Dmxl2 C A 9: 54,368,271 (GRCm39) R233L probably damaging Het
Dop1a T C 9: 86,388,312 (GRCm39) F429L probably damaging Het
Epsti1 T G 14: 78,224,122 (GRCm39) probably null Het
Erfe G T 1: 91,298,438 (GRCm39) probably null Het
Galnt5 A G 2: 57,905,015 (GRCm39) D526G probably damaging Het
Gm1330 T C 2: 148,844,906 (GRCm39) probably benign Het
Gm6181 G A 7: 52,405,364 (GRCm39) noncoding transcript Het
Irak2 T A 6: 113,642,772 (GRCm39) V68D probably benign Het
Kdm1a A G 4: 136,284,669 (GRCm39) probably benign Het
Kidins220 C A 12: 25,042,296 (GRCm39) Q198K probably damaging Het
Lgr5 A G 10: 115,288,244 (GRCm39) V728A possibly damaging Het
Micall2 G A 5: 139,702,202 (GRCm39) T347M probably damaging Het
Mrap2 T C 9: 87,064,756 (GRCm39) F166L possibly damaging Het
Msh3 A T 13: 92,445,942 (GRCm39) probably benign Het
Mul1 T A 4: 138,166,660 (GRCm39) L238Q probably damaging Het
Nuak1 G T 10: 84,210,848 (GRCm39) H413Q probably benign Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Pcnt C T 10: 76,248,002 (GRCm39) A931T probably damaging Het
Pramel20 T C 4: 143,297,697 (GRCm39) L39P probably damaging Het
Pramel34 T A 5: 93,785,656 (GRCm39) D208V probably benign Het
Psmb4 T C 3: 94,792,253 (GRCm39) Y223C probably damaging Het
Rbm15b G T 9: 106,763,301 (GRCm39) A289E possibly damaging Het
Reg3b T A 6: 78,349,111 (GRCm39) V79E probably damaging Het
Rsl1 A G 13: 67,330,045 (GRCm39) I164M probably damaging Het
Rtp1 T C 16: 23,250,285 (GRCm39) F217L probably benign Het
Sfmbt1 T C 14: 30,512,727 (GRCm39) L360P probably damaging Het
Sorbs2 T C 8: 46,248,822 (GRCm39) V611A probably damaging Het
Tenm4 T A 7: 96,542,293 (GRCm39) D1935E probably damaging Het
Tep1 T C 14: 51,093,044 (GRCm39) probably null Het
Tmppe T G 9: 114,234,549 (GRCm39) S283A probably benign Het
Tmtc1 A G 6: 148,171,485 (GRCm39) probably benign Het
Trp63 T C 16: 25,707,760 (GRCm39) I552T unknown Het
Tspan2 C A 3: 102,657,151 (GRCm39) D45E probably benign Het
Tut4 T A 4: 108,377,489 (GRCm39) D966E possibly damaging Het
Ubr1 T C 2: 120,712,745 (GRCm39) E1396G probably benign Het
Usp17lc A T 7: 103,067,868 (GRCm39) T388S probably benign Het
Wdr46 T C 17: 34,167,811 (GRCm39) V508A possibly damaging Het
Zfp462 T A 4: 55,010,667 (GRCm39) Y878N probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp954 T A 7: 7,118,714 (GRCm39) T277S probably benign Het
Other mutations in Gatd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Gatd1 APN 7 140,988,873 (GRCm39) makesense probably null
IGL02880:Gatd1 APN 7 140,990,951 (GRCm39) missense possibly damaging 0.96
R1036:Gatd1 UTSW 7 140,989,045 (GRCm39) missense probably damaging 1.00
R1553:Gatd1 UTSW 7 140,989,806 (GRCm39) missense probably benign 0.06
R2966:Gatd1 UTSW 7 140,989,080 (GRCm39) missense probably damaging 1.00
R3902:Gatd1 UTSW 7 140,989,014 (GRCm39) missense probably damaging 1.00
R4719:Gatd1 UTSW 7 140,990,981 (GRCm39) missense probably benign 0.01
R4916:Gatd1 UTSW 7 140,989,010 (GRCm39) nonsense probably null
R5013:Gatd1 UTSW 7 140,988,861 (GRCm39) utr 3 prime probably benign
R5538:Gatd1 UTSW 7 140,986,758 (GRCm39) unclassified probably benign
R7177:Gatd1 UTSW 7 140,990,947 (GRCm39) missense possibly damaging 0.94
R7975:Gatd1 UTSW 7 140,989,781 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AACCTCGCTAATGTCCAGAC -3'
(R):5'- GACATCCTTTGCTACCTGCTGG -3'

Sequencing Primer
(F):5'- GACTCAAGTACTAGATCTATGGAGCC -3'
(R):5'- GCTACCTGCTGGTTTTCTTTAG -3'
Posted On 2016-06-15