Incidental Mutation 'R4498:Glul'
ID 331677
Institutional Source Beutler Lab
Gene Symbol Glul
Ensembl Gene ENSMUSG00000026473
Gene Name glutamate-ammonia ligase
Synonyms Glns, GS
MMRRC Submission 041751-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4498 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 153775692-153785469 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 153782849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 187 (G187*)
Ref Sequence ENSEMBL: ENSMUSP00000114377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086199] [ENSMUST00000139476] [ENSMUST00000140685]
AlphaFold P15105
Predicted Effect probably null
Transcript: ENSMUST00000086199
AA Change: G187*
SMART Domains Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473
AA Change: G187*

DomainStartEndE-ValueType
Pfam:Gln-synt_N 24 104 1.1e-15 PFAM
Gln-synt_C 110 359 6.09e-74 SMART
Predicted Effect probably null
Transcript: ENSMUST00000139476
AA Change: G187*
SMART Domains Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473
AA Change: G187*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 91% (53/58)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 G A 15: 81,779,486 (GRCm39) A97T probably damaging Het
Acot9 T A X: 154,047,064 (GRCm39) L18* probably null Het
Arhgap12 A T 18: 6,111,774 (GRCm39) C69S probably damaging Het
Ccdc17 G T 4: 116,454,438 (GRCm39) probably benign Het
Ctnnd2 A C 15: 30,620,020 (GRCm39) D124A probably damaging Het
Cux1 T C 5: 136,341,847 (GRCm39) N424S probably damaging Het
Dhrs7c T C 11: 67,706,706 (GRCm39) F214S possibly damaging Het
Fat2 T C 11: 55,160,923 (GRCm39) D3269G possibly damaging Het
Fhod3 T A 18: 25,243,296 (GRCm39) probably null Het
Gnmt ATTAGGGGATGGTCTTAGGG ATTAGGG 17: 47,036,662 (GRCm39) 294 probably benign Het
H2-Q7 A T 17: 35,658,506 (GRCm39) Y48F probably damaging Het
Hes3 T C 4: 152,371,542 (GRCm39) T136A probably benign Het
Krt40 T C 11: 99,433,900 (GRCm39) T29A possibly damaging Het
Lrrc37a C A 11: 103,392,624 (GRCm39) D934Y probably benign Het
Mctp2 T A 7: 71,833,599 (GRCm39) D581V probably damaging Het
Med27 T C 2: 29,361,354 (GRCm39) S38P probably damaging Het
Mff A G 1: 82,719,501 (GRCm39) probably benign Het
Mmadhc T C 2: 50,170,236 (GRCm39) K292R probably benign Het
Mmp24 A G 2: 155,655,908 (GRCm39) I449V possibly damaging Het
Mthfd1 G T 12: 76,361,764 (GRCm39) L123F probably damaging Het
Mug2 T A 6: 122,059,711 (GRCm39) L1363Q probably damaging Het
Myh4 T C 11: 67,142,578 (GRCm39) I913T probably damaging Het
Myo16 T A 8: 10,485,869 (GRCm39) N649K probably benign Het
Myo7b A G 18: 32,147,282 (GRCm39) I87T probably benign Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nup155 A G 15: 8,183,157 (GRCm39) D1239G possibly damaging Het
Or5b21 T C 19: 12,840,033 (GRCm39) V298A probably damaging Het
Or7e173 G C 9: 19,939,029 (GRCm39) N68K possibly damaging Het
Phf10 T A 17: 15,165,377 (GRCm39) N493I probably benign Het
Pramel32 A T 4: 88,547,129 (GRCm39) probably null Het
Prr12 T C 7: 44,695,338 (GRCm39) E1376G unknown Het
Rasa3 T C 8: 13,664,587 (GRCm39) H75R probably benign Het
Rin3 G A 12: 102,335,939 (GRCm39) V537M probably damaging Het
Samd4 C T 14: 47,333,566 (GRCm39) T272I probably damaging Het
Septin5 C T 16: 18,442,142 (GRCm39) G257D probably damaging Het
Serpina6 T C 12: 103,620,326 (GRCm39) K141R probably benign Het
Siglecf T A 7: 43,001,700 (GRCm39) I170N possibly damaging Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Stk40 G A 4: 126,023,544 (GRCm39) probably null Het
Syne1 A G 10: 4,981,768 (GRCm39) S8700P probably benign Het
Tbc1d4 C T 14: 101,845,772 (GRCm39) G42E probably damaging Het
Tfap2c C T 2: 172,399,102 (GRCm39) Q425* probably null Het
Tmem255b T C 8: 13,505,998 (GRCm39) S202P probably damaging Het
Traf6 T C 2: 101,514,891 (GRCm39) S16P probably benign Het
Ttc12 A G 9: 49,383,705 (GRCm39) I66T probably damaging Het
Ttc21a G A 9: 119,787,885 (GRCm39) D818N possibly damaging Het
Zfp81 A T 17: 33,553,677 (GRCm39) I379N possibly damaging Het
Zgrf1 C A 3: 127,379,749 (GRCm39) S211* probably null 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
R3115:Glul UTSW 1 153,783,038 (GRCm39) missense possibly damaging 0.56
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'- AAGCAGGTTTAGGCCCTCCTAG -3'
(R):5'- GATGATCTCCCATTCGGATCCC -3'

Sequencing Primer
(F):5'- AGGCCCTCCTAGTTTTGGGC -3'
(R):5'- TCCTATCTGGAATTCCCACTAGAGAG -3'
Posted On 2015-07-21