Incidental Mutation 'IGL01832:Gls'
ID 154825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gls
Ensembl Gene ENSMUSG00000026103
Gene Name glutaminase
Synonyms B230365M23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01832
Quality Score
Status
Chromosome 1
Chromosomal Location 52202607-52272391 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 52207568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000114512] [ENSMUST00000114513]
AlphaFold D3Z7P3
Predicted Effect probably null
Transcript: ENSMUST00000114512
SMART Domains Protein: ENSMUSP00000110157
Gene: ENSMUSG00000026103

DomainStartEndE-ValueType
Pfam:Glutaminase 66 352 1.7e-125 PFAM
ANK 407 437 3.9e-6 SMART
ANK 441 470 3.6e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000114513
SMART Domains Protein: ENSMUSP00000110158
Gene: ENSMUSG00000026103

DomainStartEndE-ValueType
low complexity region 56 77 N/A INTRINSIC
low complexity region 89 110 N/A INTRINSIC
Pfam:Glutaminase 249 535 4.2e-123 PFAM
ANK 590 620 6.02e-4 SMART
ANK 624 653 5.69e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138906
Predicted Effect probably null
Transcript: ENSMUST00000156887
SMART Domains Protein: ENSMUSP00000116901
Gene: ENSMUSG00000026103

DomainStartEndE-ValueType
Pfam:Glutaminase 5 66 3.1e-26 PFAM
ANK 121 151 6.02e-4 SMART
ANK 155 184 5.69e2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations die within 1 day postnatally with abnormal respiratory function and goal-oriented behavior toward dam. Mice homozygous for another allele exhibit abnormal TNFA-stimulated astrocyte extracellular vesicle release. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Gls
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Gls APN 1 52,227,867 (GRCm39) missense probably damaging 1.00
IGL01366:Gls APN 1 52,207,558 (GRCm39) missense probably damaging 1.00
IGL01367:Gls APN 1 52,207,558 (GRCm39) missense probably damaging 1.00
IGL02045:Gls APN 1 52,258,674 (GRCm39) missense probably benign 0.01
LCD18:Gls UTSW 1 52,222,526 (GRCm39) intron probably benign
R0268:Gls UTSW 1 52,271,853 (GRCm39) small deletion probably benign
R0373:Gls UTSW 1 52,227,858 (GRCm39) missense probably damaging 1.00
R0590:Gls UTSW 1 52,251,534 (GRCm39) unclassified probably benign
R1440:Gls UTSW 1 52,230,293 (GRCm39) missense possibly damaging 0.59
R1628:Gls UTSW 1 52,271,835 (GRCm39) missense probably benign 0.06
R3684:Gls UTSW 1 52,205,452 (GRCm39) missense probably damaging 1.00
R3697:Gls UTSW 1 52,238,923 (GRCm39) missense possibly damaging 0.65
R3778:Gls UTSW 1 52,208,071 (GRCm39) missense probably benign 0.05
R3824:Gls UTSW 1 52,272,147 (GRCm39) missense possibly damaging 0.83
R4062:Gls UTSW 1 52,235,907 (GRCm39) missense probably damaging 1.00
R4441:Gls UTSW 1 52,235,322 (GRCm39) critical splice donor site probably null
R4740:Gls UTSW 1 52,271,947 (GRCm39) missense probably damaging 0.99
R4816:Gls UTSW 1 52,239,104 (GRCm39) intron probably benign
R5281:Gls UTSW 1 52,230,316 (GRCm39) missense probably damaging 1.00
R5712:Gls UTSW 1 52,235,911 (GRCm39) missense probably damaging 1.00
R6163:Gls UTSW 1 52,254,735 (GRCm39) missense probably benign 0.00
R6357:Gls UTSW 1 52,258,665 (GRCm39) missense probably damaging 0.99
R6498:Gls UTSW 1 52,259,198 (GRCm39) missense probably benign
R7187:Gls UTSW 1 52,259,139 (GRCm39) missense probably damaging 1.00
R7413:Gls UTSW 1 52,254,735 (GRCm39) missense probably benign 0.00
R7545:Gls UTSW 1 52,230,311 (GRCm39) missense probably damaging 1.00
R7627:Gls UTSW 1 52,205,425 (GRCm39) missense probably benign 0.00
R7648:Gls UTSW 1 52,235,939 (GRCm39) missense probably damaging 0.99
R7781:Gls UTSW 1 52,251,492 (GRCm39) nonsense probably null
R7979:Gls UTSW 1 52,230,271 (GRCm39) missense probably damaging 0.99
R8488:Gls UTSW 1 52,239,012 (GRCm39) critical splice donor site probably null
R9179:Gls UTSW 1 52,239,015 (GRCm39) missense probably damaging 1.00
R9240:Gls UTSW 1 52,207,553 (GRCm39) missense probably benign 0.00
R9550:Gls UTSW 1 52,251,373 (GRCm39) nonsense probably null
R9667:Gls UTSW 1 52,230,036 (GRCm39) critical splice donor site probably null
R9721:Gls UTSW 1 52,251,427 (GRCm39) missense probably damaging 1.00
Z1176:Gls UTSW 1 52,253,647 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04