Incidental Mutation 'IGL02881:Glul'
ID362807
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 #IGL02881
Quality Score
Status
Chromosome1
Chromosomal Location153899944-153909723 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 153907116 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 191 (T191K)
Ref Sequence ENSEMBL: ENSMUSP00000114377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086199] [ENSMUST00000139476] [ENSMUST00000140685]
Predicted Effect probably benign
Transcript: ENSMUST00000086199
AA Change: T191K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473
AA Change: T191K

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: T191K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473
AA Change: T191K

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,555,999 probably benign Het
Aatf A G 11: 84,471,289 probably benign Het
Asap3 A T 4: 136,239,237 H542L probably benign Het
Cyp4v3 A T 8: 45,308,716 L389H probably damaging Het
Dnah17 C T 11: 118,042,118 E3605K probably damaging Het
Fry C T 5: 150,359,051 T347M probably damaging Het
Gm6614 T C 6: 141,972,243 R636G probably benign Het
Grsf1 A T 5: 88,673,830 L125Q probably damaging Het
Hfm1 A G 5: 106,874,252 I976T probably damaging Het
Itgb5 A G 16: 33,919,905 T462A probably benign Het
Lmna G T 3: 88,502,926 R60S possibly damaging Het
Mrpl10 T A 11: 97,047,073 V89D probably damaging Het
Muc5b C T 7: 141,857,712 T1465I unknown Het
Myh15 A C 16: 49,117,265 D743A possibly damaging Het
Noxo1 C A 17: 24,699,435 L190I probably damaging Het
Noxo1 T A 17: 24,699,436 L190Q probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1025-ps1 A G 2: 85,918,116 S64G probably benign Het
Olfr1098 A G 2: 86,922,713 V273A possibly damaging Het
Olfr1226 T A 2: 89,193,641 Y131F probably damaging Het
Olfr170 A T 16: 19,606,300 Y123N probably damaging Het
Pfkfb4 A G 9: 109,007,296 T131A probably null Het
Phf20l1 T C 15: 66,594,980 probably null Het
Pnliprp2 A G 19: 58,771,446 D363G probably benign Het
Prpf6 C T 2: 181,632,071 T336I probably benign Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Sae1 T G 7: 16,359,118 K221N probably damaging Het
Slc45a1 T C 4: 150,638,530 K299R probably benign Het
Smad2 C A 18: 76,299,780 probably null Het
Tmem117 T C 15: 94,879,425 F152S probably damaging Het
Tmem232 C T 17: 65,450,370 C276Y probably damaging Het
Tor1b A T 2: 30,953,853 K47* probably null Het
Ttn A G 2: 76,909,803 V3464A probably benign Het
Ube3b A G 5: 114,412,884 T870A possibly damaging Het
Zscan25 T G 5: 145,290,486 L320R probably benign Het
Other mutations in Glul
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Glul APN 1 153906476 missense probably benign 0.01
R0512:Glul UTSW 1 153905386 intron probably benign
R1455:Glul UTSW 1 153907099 splice site 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
R8076:Glul UTSW 1 153907122 missense possibly damaging 0.91
R8695:Glul UTSW 1 153903023 missense probably benign 0.17
Posted On2015-12-18