Incidental Mutation 'R7627:Gls'
ID 589479
Institutional Source Beutler Lab
Gene Symbol Gls
Ensembl Gene ENSMUSG00000026103
Gene Name glutaminase
Synonyms B230365M23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 52202607-52272391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52205425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 639 (D639E)
Ref Sequence ENSEMBL: ENSMUSP00000110158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070968] [ENSMUST00000114512] [ENSMUST00000114513] [ENSMUST00000189244]
AlphaFold D3Z7P3
Predicted Effect probably benign
Transcript: ENSMUST00000070968
SMART Domains Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104

DomainStartEndE-ValueType
STAT_int 2 122 2.5e-61 SMART
Pfam:STAT_alpha 139 315 1.4e-56 PFAM
Pfam:STAT_bind 317 566 4.2e-82 PFAM
SH2 571 687 1.59e-1 SMART
Pfam:STAT1_TAZ2bind 715 739 2.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114512
AA Change: D456E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110157
Gene: ENSMUSG00000026103
AA Change: D456E

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 benign
Transcript: ENSMUST00000114513
AA Change: D639E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110158
Gene: ENSMUSG00000026103
AA Change: D639E

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
SMART Domains Protein: ENSMUSP00000116901
Gene: ENSMUSG00000026103
AA Change: D169E

DomainStartEndE-ValueType
Pfam:Glutaminase 5 66 3.1e-26 PFAM
ANK 121 151 6.02e-4 SMART
ANK 155 184 5.69e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189244
SMART Domains Protein: ENSMUSP00000140482
Gene: ENSMUSG00000026104

DomainStartEndE-ValueType
Pfam:STAT_bind 13 61 2.6e-14 PFAM
SH2 65 181 1.59e-1 SMART
Pfam:STAT1_TAZ2bind 209 233 7.8e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik T A 14: 34,234,055 (GRCm39) I79L unknown Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Acvrl1 G A 15: 101,033,747 (GRCm39) R143Q probably benign Het
Adam22 A G 5: 8,417,933 (GRCm39) S8P probably benign Het
Ankrd11 A G 8: 123,617,690 (GRCm39) I2054T possibly damaging Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Cad T A 5: 31,217,508 (GRCm39) L354Q probably damaging Het
Ccdc15 A T 9: 37,253,698 (GRCm39) C184S unknown Het
Ccl8 A G 11: 82,006,865 (GRCm39) D26G probably benign Het
Ccsap T C 8: 124,569,097 (GRCm39) Y248C probably damaging Het
Col5a1 T G 2: 27,840,665 (GRCm39) Y271* probably null Het
Dnmt3b A G 2: 153,519,500 (GRCm39) N695S probably benign Het
Dync1li2 A G 8: 105,156,140 (GRCm39) C234R probably benign Het
Dync2h1 A T 9: 7,101,111 (GRCm39) D2758E probably benign Het
Eif2ak3 A T 6: 70,869,919 (GRCm39) T869S probably benign Het
Foxn4 G T 5: 114,398,495 (GRCm39) P175H possibly damaging Het
Gbp5 T G 3: 142,206,319 (GRCm39) M1R probably null Het
Glp2r G T 11: 67,637,589 (GRCm39) L30I unknown Het
Gm5145 G T 17: 20,790,654 (GRCm39) E11* probably null Het
Gm9772 T A 17: 22,226,160 (GRCm39) K41N probably damaging Het
Gnat3 A T 5: 18,204,746 (GRCm39) D133V Het
Gse1 C A 8: 121,299,516 (GRCm39) P849T unknown Het
H2ac15 C A 13: 21,937,916 (GRCm39) V28L probably benign Het
Hoxb9 A G 11: 96,165,521 (GRCm39) T197A probably damaging Het
Krt39 A G 11: 99,405,575 (GRCm39) S442P possibly damaging Het
Leng9 A G 7: 4,151,617 (GRCm39) L353P probably damaging Het
Mamdc2 A T 19: 23,288,355 (GRCm39) M561K probably damaging Het
Mamdc4 A G 2: 25,458,225 (GRCm39) V395A probably damaging Het
Mrpl32 G A 13: 14,787,498 (GRCm39) R36C probably benign Het
Or6b2b A T 1: 92,419,107 (GRCm39) Y123* probably null Het
Or7e168 A G 9: 19,719,947 (GRCm39) D111G probably damaging Het
Papss1 T A 3: 131,290,873 (GRCm39) D205E probably benign Het
Pdlim2 T C 14: 70,408,924 (GRCm39) D151G probably benign Het
Pdxp T C 15: 78,798,339 (GRCm39) V57A probably damaging Het
Plec T A 15: 76,061,594 (GRCm39) E2781V probably damaging Het
Prr7 GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC GCGCCGCCGCAC 13: 55,620,147 (GRCm39) probably benign Het
Rnf32 G A 5: 29,402,948 (GRCm39) probably benign Het
Ryr2 A G 13: 11,776,213 (GRCm39) V1108A possibly damaging Het
Slc4a8 A G 15: 100,686,104 (GRCm39) H276R probably benign Het
Slco1a7 C T 6: 141,690,271 (GRCm39) V161I probably damaging Het
Spta1 T A 1: 174,032,944 (GRCm39) D1000E probably damaging Het
Sva C A 6: 42,019,598 (GRCm39) Q153K unknown Het
Tmprss11d T C 5: 86,457,365 (GRCm39) Y236C possibly damaging Het
Zfp160 T C 17: 21,247,270 (GRCm39) S607P probably damaging Het
Zfp82 C A 7: 29,756,147 (GRCm39) G312W 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
IGL01832:Gls APN 1 52,207,568 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACAATGCTCTCCATAGTCATGTTC -3'
(R):5'- CTCACACCAGTGTCTGAACTC -3'

Sequencing Primer
(F):5'- AGTCATGTTCCACAATGACTAGG -3'
(R):5'- GGGAGTCTCACTTGTAATACTGC -3'
Posted On 2019-10-24