Incidental Mutation 'IGL01615:Glul'
ID92363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glul
Ensembl Gene ENSMUSG00000026473
Gene Nameglutamate-ammonia ligase (glutamine synthetase)
SynonymsGS, Glns
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01615
Quality Score
Status
Chromosome1
Chromosomal Location153899944-153909723 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 153906476 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 152 (N152K)
Ref Sequence ENSEMBL: ENSMUSP00000083375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086199] [ENSMUST00000139476] [ENSMUST00000140685]
Predicted Effect probably benign
Transcript: ENSMUST00000086199
AA Change: N152K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473
AA Change: N152K

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
AA Change: N152K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473
AA Change: N152K

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
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,128,477 T906A probably damaging Het
Akap13 A G 7: 75,697,393 S1731G probably damaging Het
Apbb2 A G 5: 66,307,701 V650A probably benign Het
Appl1 A G 14: 26,959,470 probably benign Het
Avpr1b T G 1: 131,600,147 V136G probably damaging Het
B020004J07Rik T A 4: 101,837,004 R227S possibly damaging Het
C6 T C 15: 4,781,896 F409L probably benign Het
Cdk20 A G 13: 64,436,310 probably benign Het
Cenpf T C 1: 189,653,184 K2300E possibly damaging Het
Cfap57 C T 4: 118,600,796 R399Q probably damaging Het
Cnnm1 A T 19: 43,471,936 S706C probably benign Het
Cr1l T C 1: 195,129,881 I45V possibly damaging Het
D130043K22Rik A T 13: 24,899,796 R1081S probably damaging Het
Ddx60 A T 8: 61,963,740 H573L probably null Het
Eif5b T C 1: 38,045,706 L878S probably damaging Het
Ets1 T C 9: 32,732,939 probably benign Het
Evi5 A G 5: 107,764,707 L696P probably damaging Het
Fbxo18 C A 2: 11,757,523 E12* probably null Het
Gabpb1 C A 2: 126,653,600 M77I possibly damaging Het
Gm45234 T C 6: 124,746,431 Y613C probably damaging Het
Gm5611 A G 9: 17,030,351 noncoding transcript Het
Gm6583 A G 5: 112,355,830 S3P possibly damaging Het
Gpr156 T A 16: 37,988,591 I225K probably damaging Het
Herc4 T C 10: 63,290,682 probably benign Het
Iqsec3 C T 6: 121,410,621 V720M probably damaging Het
Itgam A T 7: 128,116,767 H1104L possibly damaging Het
Itgb3 T A 11: 104,643,965 D549E probably damaging Het
Kctd7 A T 5: 130,148,135 M76L probably damaging Het
Kdm3b T G 18: 34,829,231 N1523K probably damaging Het
Map3k12 T A 15: 102,503,751 E318D probably damaging Het
Mc1r T C 8: 123,408,050 Y181H probably damaging Het
Mex3c G A 18: 73,573,632 A197T unknown Het
Mvk A G 5: 114,446,292 D71G probably benign Het
Ndufb3 T A 1: 58,595,753 L88* probably null Het
Olfr476 A G 7: 107,967,937 D180G probably damaging Het
Olfr684 A G 7: 105,157,460 V74A probably benign Het
Pifo G T 3: 105,997,207 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Slc5a3 C T 16: 92,079,112 Q686* probably null Het
Vmn2r75 T C 7: 86,148,473 I711V probably benign Het
Vps13c T A 9: 67,955,781 H3026Q probably benign Het
Zfp354c A G 11: 50,817,905 S22P possibly damaging Het
Other mutations in Glul
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02881:Glul APN 1 153907116 missense probably benign 0.00
R0512:Glul UTSW 1 153905386 intron probably benign
R1455:Glul UTSW 1 153907099 unclassified probably null
R1589:Glul UTSW 1 153905538 intron probably benign
R1922:Glul UTSW 1 153907324 missense probably benign 0.05
R2223:Glul UTSW 1 153906497 critical splice donor site probably null
R3115:Glul UTSW 1 153907292 missense possibly damaging 0.56
R4498:Glul UTSW 1 153907103 nonsense probably null
R4541:Glul UTSW 1 153903036 nonsense probably null
R4595:Glul UTSW 1 153903050 missense possibly damaging 0.95
R4825:Glul UTSW 1 153903044 missense probably benign 0.00
R5714:Glul UTSW 1 153906497 unclassified probably benign
R6058:Glul UTSW 1 153907341 missense probably benign 0.03
R6101:Glul UTSW 1 153906431 nonsense probably null
R6105:Glul UTSW 1 153906431 nonsense probably null
R6517:Glul UTSW 1 153908033 missense probably benign 0.10
Posted On2013-12-09