Incidental Mutation 'R4293:Gmps'
| ID |
323157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmps
|
| Ensembl Gene |
ENSMUSG00000027823 |
| Gene Name |
guanine monophosphate synthetase |
| Synonyms |
Gm9479 |
| MMRRC Submission |
041082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R4293 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63883527-63930000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63898040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 275
(M275V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029405]
|
| AlphaFold |
Q3THK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029405
AA Change: M275V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: M275V
| 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 |
|
| Meta Mutation Damage Score |
0.5007 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,915,468 (GRCm39) |
E428G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,732,211 (GRCm39) |
I1600T |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
| Asgr2 |
C |
A |
11: 69,989,057 (GRCm39) |
T167K |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,382,308 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,299 (GRCm39) |
D24G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,993 (GRCm39) |
R2767G |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,121 (GRCm39) |
T309A |
probably benign |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,039,720 (GRCm39) |
L713P |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,362 (GRCm39) |
F24S |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,710 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,031,892 (GRCm39) |
|
probably null |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,824,171 (GRCm39) |
D164G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,051,453 (GRCm39) |
T349S |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,253 (GRCm39) |
M136T |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,477,043 (GRCm39) |
A855T |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,147,500 (GRCm39) |
D13E |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,237,511 (GRCm39) |
R165C |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,260 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn9 |
T |
C |
11: 82,873,334 (GRCm39) |
N523S |
probably benign |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,848,693 (GRCm39) |
T49A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,084,318 (GRCm39) |
I954V |
probably benign |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,188,542 (GRCm39) |
F366S |
possibly damaging |
Het |
| Zfp317 |
A |
G |
9: 19,557,990 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gmps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Gmps
|
APN |
3 |
63,921,788 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGCATCCCCTCAGAGTC -3'
(R):5'- GACAGATTTTAGGGAGATTTTGAGGAC -3'
Sequencing Primer
(F):5'- GCATCCCCTCAGAGTCTCTTG -3'
(R):5'- TCTAAAAGGCATGTTTAGCCTTTAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation