Incidental Mutation 'IGL00499:Gmps'
| ID |
6887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmps
|
| Ensembl Gene |
ENSMUSG00000027823 |
| Gene Name |
guanine monophosphate synthetase |
| Synonyms |
Gm9479 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL00499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
63883527-63930000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63921788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 597
(N597S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029405]
|
| AlphaFold |
Q3THK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029405
AA Change: N597S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: N597S
| Domain | Start | End | E-Value | Type |
|---|
|
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
| Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
| Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
| Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gmps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Gmps
|
APN |
3 |
63,922,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01369:Gmps
|
APN |
3 |
63,909,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02332:Gmps
|
APN |
3 |
63,897,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02481:Gmps
|
APN |
3 |
63,921,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Gmps
|
APN |
3 |
63,921,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03173:Gmps
|
APN |
3 |
63,897,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
K3955:Gmps
|
UTSW |
3 |
63,908,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Gmps
|
UTSW |
3 |
63,906,119 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0165:Gmps
|
UTSW |
3 |
63,901,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Gmps
|
UTSW |
3 |
63,901,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0940:Gmps
|
UTSW |
3 |
63,883,743 (GRCm39) |
splice site |
probably benign |
|
|
R1686:Gmps
|
UTSW |
3 |
63,893,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Gmps
|
UTSW |
3 |
63,908,938 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1924:Gmps
|
UTSW |
3 |
63,906,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Gmps
|
UTSW |
3 |
63,921,684 (GRCm39) |
nonsense |
probably null |
|
|
R3014:Gmps
|
UTSW |
3 |
63,922,857 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3800:Gmps
|
UTSW |
3 |
63,889,866 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4118:Gmps
|
UTSW |
3 |
63,887,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4293:Gmps
|
UTSW |
3 |
63,898,040 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4596:Gmps
|
UTSW |
3 |
63,901,338 (GRCm39) |
nonsense |
probably null |
|
|
R4665:Gmps
|
UTSW |
3 |
63,908,956 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5032:Gmps
|
UTSW |
3 |
63,897,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6045:Gmps
|
UTSW |
3 |
63,887,558 (GRCm39) |
missense |
probably benign |
|
|
R6153:Gmps
|
UTSW |
3 |
63,908,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6985:Gmps
|
UTSW |
3 |
63,922,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7188:Gmps
|
UTSW |
3 |
63,918,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7523:Gmps
|
UTSW |
3 |
63,919,087 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7724:Gmps
|
UTSW |
3 |
63,893,074 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7806:Gmps
|
UTSW |
3 |
63,890,091 (GRCm39) |
splice site |
probably null |
|
|
R7819:Gmps
|
UTSW |
3 |
63,893,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Gmps
|
UTSW |
3 |
63,922,984 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8113:Gmps
|
UTSW |
3 |
63,887,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8351:Gmps
|
UTSW |
3 |
63,887,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8491:Gmps
|
UTSW |
3 |
63,921,779 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8947:Gmps
|
UTSW |
3 |
63,906,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9233:Gmps
|
UTSW |
3 |
63,924,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Gmps
|
UTSW |
3 |
63,889,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Gmps
|
UTSW |
3 |
63,900,640 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9639:Gmps
|
UTSW |
3 |
63,922,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Gmps
|
UTSW |
3 |
63,897,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0063:Gmps
|
UTSW |
3 |
63,904,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation