Incidental Mutation 'IGL03173:Gmps'
ID411920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmps
Ensembl Gene ENSMUSG00000027823
Gene Nameguanine monophosphate synthetase
SynonymsGm9479
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL03173
Quality Score
Status
Chromosome3
Chromosomal Location63976106-64022579 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63990329 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 234 (V234A)
Ref Sequence ENSEMBL: ENSMUSP00000029405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029405]
Predicted Effect probably damaging
Transcript: ENSMUST00000029405
AA Change: V234A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: V234A

DomainStartEndE-ValueType
Pfam:GATase 29 210 6.3e-42 PFAM
Pfam:Peptidase_C26 91 192 1.9e-14 PFAM
Pfam:NAD_synthase 219 339 2.8e-10 PFAM
Pfam:Asn_synthase 231 315 3.9e-6 PFAM
Pfam:tRNA_Me_trans 237 318 1.1e-6 PFAM
Pfam:QueC 238 353 5.3e-9 PFAM
Pfam:GMP_synt_C 492 692 1.4e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b T C 12: 105,658,294 K649E possibly damaging Het
B230359F08Rik T C 14: 53,796,077 probably benign Het
Cnnm4 A G 1: 36,473,092 probably benign Het
Cntrob C T 11: 69,310,027 A503T possibly damaging Het
D3Ertd751e T A 3: 41,756,062 Y170N probably damaging Het
Ddx23 T C 15: 98,651,004 I306V probably benign Het
Ep400 A G 5: 110,708,871 probably benign Het
Hivep2 G T 10: 14,127,982 G108V possibly damaging Het
Irgc1 T C 7: 24,433,302 E30G probably damaging Het
Krt75 T C 15: 101,572,727 Y204C probably damaging Het
Ms4a14 G A 19: 11,304,196 L333F possibly damaging Het
Olfr1065 A T 2: 86,445,444 C179* probably null Het
Olfr1440 T A 19: 12,395,046 M261K possibly damaging Het
Olfr630 A G 7: 103,754,976 V203A probably benign Het
Pitpnm3 G A 11: 72,092,563 T80I probably benign Het
Pou2f2 T C 7: 25,099,946 probably benign Het
Slc34a1 T C 13: 55,413,276 L518P probably damaging Het
Sorbs1 T A 19: 40,363,262 T235S probably damaging Het
Ssxa1 C T X: 21,118,985 R41C probably benign Het
Syt2 A G 1: 134,743,579 N142D possibly damaging Het
Taf3 A G 2: 9,952,927 V143A probably damaging Het
Tti1 A G 2: 158,007,012 probably benign Het
Vmn2r13 T C 5: 109,171,779 E445G possibly damaging Het
Zfp663 G T 2: 165,352,499 T600K probably damaging Het
Zfp750 G A 11: 121,513,825 Q75* probably null Het
Other mutations in Gmps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Gmps APN 3 64014367 missense probably benign
IGL01341:Gmps APN 3 64015440 missense probably damaging 1.00
IGL01369:Gmps APN 3 64001592 missense probably benign 0.00
IGL02332:Gmps APN 3 63990569 missense probably benign 0.01
IGL02481:Gmps APN 3 64014352 missense probably damaging 1.00
IGL02483:Gmps APN 3 64014352 missense probably damaging 1.00
K3955:Gmps UTSW 3 64001533 missense probably damaging 1.00
R0089:Gmps UTSW 3 63998698 missense probably benign 0.20
R0165:Gmps UTSW 3 63993954 missense probably damaging 1.00
R0466:Gmps UTSW 3 63993944 missense probably damaging 0.97
R0940:Gmps UTSW 3 63976322 splice site probably benign
R1686:Gmps UTSW 3 63985654 missense probably damaging 1.00
R1872:Gmps UTSW 3 64001517 missense probably benign 0.15
R1924:Gmps UTSW 3 63998628 missense probably damaging 1.00
R2229:Gmps UTSW 3 64014263 nonsense probably null
R3014:Gmps UTSW 3 64015436 missense possibly damaging 0.79
R3800:Gmps UTSW 3 63982445 missense possibly damaging 0.48
R4118:Gmps UTSW 3 63980194 missense probably benign 0.00
R4293:Gmps UTSW 3 63990619 missense probably damaging 0.99
R4596:Gmps UTSW 3 63993917 nonsense probably null
R4665:Gmps UTSW 3 64001535 missense probably benign 0.11
R5032:Gmps UTSW 3 63990325 missense probably benign 0.01
R6045:Gmps UTSW 3 63980137 missense probably benign
R6153:Gmps UTSW 3 64001543 missense probably benign 0.00
R6985:Gmps UTSW 3 64015539 missense probably damaging 1.00
R7188:Gmps UTSW 3 64011561 missense probably damaging 0.97
R7523:Gmps UTSW 3 64011666 missense possibly damaging 0.78
R7724:Gmps UTSW 3 63985653 missense possibly damaging 0.85
R7819:Gmps UTSW 3 63985627 missense probably damaging 1.00
R7849:Gmps UTSW 3 64015563 missense probably benign 0.33
R7932:Gmps UTSW 3 64015563 missense probably benign 0.33
X0063:Gmps UTSW 3 63996850 missense probably damaging 1.00
Posted On2016-08-02