Incidental Mutation 'R3115:Glul'
ID 263959
Institutional Source Beutler Lab
Gene Symbol Glul
Ensembl Gene ENSMUSG00000026473
Gene Name glutamate-ammonia ligase
Synonyms Glns, GS
MMRRC Submission 040588-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3115 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 153775692-153785469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153783038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 204 (F204L)
Ref Sequence ENSEMBL: ENSMUSP00000083375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086199] [ENSMUST00000139476] [ENSMUST00000140685]
AlphaFold P15105
Predicted Effect possibly damaging
Transcript: ENSMUST00000086199
AA Change: F204L

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473
AA Change: F204L

DomainStartEndE-ValueType
Pfam:Gln-synt_N 24 104 1.1e-15 PFAM
Gln-synt_C 110 359 6.09e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139476
SMART Domains Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473

DomainStartEndE-ValueType
Pfam:Gln-synt_N 24 104 8.8e-23 PFAM
Pfam:Gln-synt_C 110 199 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140685
SMART Domains Protein: ENSMUSP00000123157
Gene: ENSMUSG00000026473

DomainStartEndE-ValueType
Pfam:Gln-synt_N 24 104 1.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154576
Meta Mutation Damage Score 0.9298 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Embryos homozygous for a reporter/null allele are not viable after E3.5; however, mutant E2.5 embryonic cells can survive in vitro if provided with glutamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,266,653 (GRCm39) probably null Het
Abcc9 T C 6: 142,634,755 (GRCm39) T170A probably benign Het
Agbl2 T C 2: 90,636,245 (GRCm39) S594P possibly damaging Het
Aoc1l3 A G 6: 48,964,331 (GRCm39) Y113C probably damaging Het
Atf7 C T 15: 102,442,858 (GRCm39) S417N probably benign Het
Cacng7 T C 7: 3,387,450 (GRCm39) V111A probably benign Het
Chrm4 A G 2: 91,757,705 (GRCm39) T38A probably benign Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Dcx A G X: 142,706,105 (GRCm39) Y229H probably damaging Het
Espl1 T A 15: 102,231,639 (GRCm39) F1945Y possibly damaging Het
Grm2 A G 9: 106,524,822 (GRCm39) V631A probably damaging Het
Ifi205 T A 1: 173,855,901 (GRCm39) Y43F possibly damaging Het
Irs3 A G 5: 137,642,118 (GRCm39) L440P probably benign Het
Itpr1 A G 6: 108,383,070 (GRCm39) D1466G possibly damaging Het
Jarid2 T C 13: 45,049,942 (GRCm39) S257P probably damaging Het
Knl1 C A 2: 118,900,872 (GRCm39) L858M possibly damaging Het
Krt24 T A 11: 99,173,262 (GRCm39) T298S possibly damaging Het
Lrriq1 C T 10: 103,006,294 (GRCm39) R1277Q probably benign Het
Mgp A C 6: 136,849,683 (GRCm39) Y92D probably damaging Het
Micu3 A G 8: 40,835,208 (GRCm39) H521R probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Moxd1 G T 10: 24,177,429 (GRCm39) E582* probably null Het
Mprip T A 11: 59,656,229 (GRCm39) probably null Het
Mybph A G 1: 134,122,476 (GRCm39) I174V probably benign Het
Mynn C T 3: 30,661,959 (GRCm39) T347M probably damaging Het
Nhsl1 A T 10: 18,400,916 (GRCm39) Q714L probably damaging Het
Nr1d2 A T 14: 18,215,504 (GRCm38) probably null Het
Or10g3 T C 14: 52,610,397 (GRCm39) T38A probably damaging Het
Or2a5 T C 6: 42,873,784 (GRCm39) V133A probably benign Het
Or52h9 C A 7: 104,202,295 (GRCm39) H56Q probably benign Het
Or5p61 T C 7: 107,759,029 (GRCm39) E17G probably benign Het
Pcdha4 T C 18: 37,086,603 (GRCm39) V262A probably benign Het
Pde4d T A 13: 110,084,792 (GRCm39) M519K probably damaging Het
Phactr2 C A 10: 13,137,645 (GRCm39) E166* probably null Het
Prdx4 C T X: 154,113,407 (GRCm39) R167Q probably damaging Het
Prkdc C T 16: 15,482,222 (GRCm39) L422F probably benign Het
Prph T A 15: 98,953,337 (GRCm39) F84I probably damaging Het
Rnmt A G 18: 68,447,079 (GRCm39) E321G probably benign Het
Serpinb13 A T 1: 106,910,568 (GRCm39) E64V probably null Het
Slc12a4 A T 8: 106,686,091 (GRCm39) S81T probably damaging Het
Slc47a1 A G 11: 61,258,506 (GRCm39) L179P possibly damaging Het
Sp140l2 C G 1: 85,235,106 (GRCm39) probably benign Het
Spata31e5 A C 1: 28,815,410 (GRCm39) V874G possibly damaging Het
Sycp2l C A 13: 41,302,274 (GRCm39) T456K probably benign Het
Tenm2 A G 11: 35,914,193 (GRCm39) L2447P probably damaging Het
Tll1 A G 8: 64,506,900 (GRCm39) C614R probably damaging Het
Usp5 T C 6: 124,792,560 (GRCm39) Y826C probably damaging Het
Vmn2r71 A C 7: 85,272,866 (GRCm39) D560A probably damaging Het
Wdr91 A G 6: 34,882,522 (GRCm39) L209P probably damaging Het
Zfp511 T A 7: 139,616,504 (GRCm39) D46E probably benign Het
Zfp81 C T 17: 33,553,537 (GRCm39) A426T possibly damaging Het
Zscan22 T C 7: 12,641,217 (GRCm39) I328T probably benign Het
Other mutations in Glul
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Glul APN 1 153,782,222 (GRCm39) missense probably benign 0.01
IGL02881:Glul APN 1 153,782,862 (GRCm39) missense probably benign 0.00
R0512:Glul UTSW 1 153,781,132 (GRCm39) intron probably benign
R1455:Glul UTSW 1 153,782,845 (GRCm39) splice site probably null
R1589:Glul UTSW 1 153,781,284 (GRCm39) intron probably benign
R1922:Glul UTSW 1 153,783,070 (GRCm39) missense probably benign 0.05
R2223:Glul UTSW 1 153,782,243 (GRCm39) critical splice donor site probably null
R4498:Glul UTSW 1 153,782,849 (GRCm39) nonsense probably null
R4541:Glul UTSW 1 153,778,782 (GRCm39) nonsense probably null
R4595:Glul UTSW 1 153,778,796 (GRCm39) missense possibly damaging 0.95
R4825:Glul UTSW 1 153,778,790 (GRCm39) missense probably benign 0.00
R5714:Glul UTSW 1 153,782,243 (GRCm39) unclassified probably benign
R6058:Glul UTSW 1 153,783,087 (GRCm39) missense probably benign 0.03
R6101:Glul UTSW 1 153,782,177 (GRCm39) nonsense probably null
R6105:Glul UTSW 1 153,782,177 (GRCm39) nonsense probably null
R6517:Glul UTSW 1 153,783,779 (GRCm39) missense probably benign 0.10
R8076:Glul UTSW 1 153,782,868 (GRCm39) missense possibly damaging 0.91
R8695:Glul UTSW 1 153,778,769 (GRCm39) missense probably benign 0.17
R9280:Glul UTSW 1 153,783,611 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACAAATGCGGAGGTTATGCC -3'
(R):5'- CCATGAGAATACAGACGGCTC -3'

Sequencing Primer
(F):5'- CTGCCCAGGTAAATGGTGC -3'
(R):5'- AGGTACTTACTTCAGACCATTCTC -3'
Posted On 2015-02-05