Mutagenetix > Incidental Mutation

Incidental Mutation 'R0940:Gmps'

81371

Institutional Source

Beutler Lab

Gene Symbol

Gmps

Ensembl Gene

ENSMUSG00000027823

Gene Name

guanine monophosphate synthetase

Synonyms

Gm9479

MMRRC Submission

039079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0940 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

63883527-63930000 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 63883743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029405]

AlphaFold

Q3THK7

Predicted Effect

probably benign
Transcript: ENSMUST00000029405

SMART Domains

Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823

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

1x: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

100% (68/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,119,367 (GRCm39)		noncoding transcript	Het
2610021A01Rik	T	G	7: 41,275,858 (GRCm39)	I520M	probably damaging	Het
Ackr4	A	G	9: 103,976,831 (GRCm39)	F39L	probably damaging	Het
Adgre5	C	T	8: 84,460,126 (GRCm39)	S92N	probably damaging	Het
Adrb2	T	C	18: 62,312,762 (GRCm39)	D21G	probably benign	Het
Akr1c6	G	A	13: 4,486,372 (GRCm39)	E60K	probably benign	Het
Bcl7c	T	A	7: 127,306,503 (GRCm39)	N96I	possibly damaging	Het
Brca1	A	T	11: 101,422,969 (GRCm39)	S106R	possibly damaging	Het
C6	A	T	15: 4,764,717 (GRCm39)	T138S	probably benign	Het
Cul3	T	C	1: 80,300,564 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 31,022,217 (GRCm39)	M3939K	probably damaging	Het
Dock4	T	A	12: 40,681,626 (GRCm39)		probably benign	Het
Dsc2	T	G	18: 20,183,116 (GRCm39)	T101P	probably damaging	Het
Dynlt1b	T	C	17: 6,697,649 (GRCm39)		probably benign	Het
E330013P04Rik	A	G	19: 60,150,354 (GRCm39)		noncoding transcript	Het
Fggy	A	G	4: 95,585,238 (GRCm39)	E39G	probably benign	Het
Fhip1a	A	G	3: 85,572,797 (GRCm39)	V952A	possibly damaging	Het
Fmo6	A	T	1: 162,753,795 (GRCm39)	C116S	probably benign	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Hnrnpm	G	A	17: 33,868,976 (GRCm39)	R523C	probably damaging	Het
Inpp5a	T	C	7: 139,105,654 (GRCm39)	Y202H	probably damaging	Het
Kank3	C	T	17: 34,036,450 (GRCm39)	S106F	probably damaging	Het
Lmcd1	A	G	6: 112,305,658 (GRCm39)	D253G	probably benign	Het
Lrrk2	A	T	15: 91,613,284 (GRCm39)	I803F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Mycbp2	A	T	14: 103,500,129 (GRCm39)		probably benign	Het
Myh4	A	T	11: 67,133,689 (GRCm39)	N243Y	probably damaging	Het
Myorg	A	G	4: 41,497,996 (GRCm39)	Y545H	probably damaging	Het
Nfatc1	C	T	18: 80,679,110 (GRCm39)	M759I	probably benign	Het
Nipal4	A	G	11: 46,041,139 (GRCm39)	I352T	possibly damaging	Het
Nomo1	A	G	7: 45,683,329 (GRCm39)	E25G	possibly damaging	Het
Or10j27	A	G	1: 172,958,020 (GRCm39)	S255P	probably benign	Het
Or13a19	T	C	7: 139,903,065 (GRCm39)	I151T	probably benign	Het
Or14j7	A	G	17: 38,234,591 (GRCm39)	I45V	probably damaging	Het
Or1e32	T	C	11: 73,705,050 (GRCm39)	N286S	probably damaging	Het
Or4c116	T	A	2: 88,942,419 (GRCm39)	I146L	probably benign	Het
Or5p66	T	C	7: 107,886,264 (GRCm39)	D23G	probably benign	Het
Pabpn1l	A	G	8: 123,349,183 (GRCm39)	V78A	probably benign	Het
Pde6b	T	A	5: 108,568,203 (GRCm39)	I327N	possibly damaging	Het
Phrf1	T	C	7: 140,834,768 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,575,818 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,482,863 (GRCm39)	V1519I	probably benign	Het
Ppp2cb	T	C	8: 34,105,689 (GRCm39)		probably null	Het
Prickle2	A	G	6: 92,387,984 (GRCm39)	Y473H	probably benign	Het
Prpf3	A	G	3: 95,751,535 (GRCm39)	W389R	probably damaging	Het
Psme4	G	A	11: 30,765,264 (GRCm39)	E544K	possibly damaging	Het
Relb	A	T	7: 19,345,767 (GRCm39)	D395E	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,307,389 (GRCm39)	N683S	probably benign	Het
Rtel1	T	C	2: 180,964,596 (GRCm39)	C102R	probably benign	Het
Sel1l3	C	T	5: 53,301,379 (GRCm39)		probably benign	Het
Slc8a2	A	G	7: 15,878,887 (GRCm39)	T458A	probably benign	Het
Smc3	T	A	19: 53,629,340 (GRCm39)	M931K	probably benign	Het
Sorbs2	T	C	8: 46,249,539 (GRCm39)	V795A	probably benign	Het
Tgm3	A	G	2: 129,854,326 (GRCm39)	S2G	probably benign	Het
Tpbpa	T	C	13: 61,087,867 (GRCm39)	T75A	probably damaging	Het
Trub1	A	G	19: 57,473,495 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,328,604 (GRCm39)		probably null	Het
Ugt2a3	A	G	5: 87,475,065 (GRCm39)	V393A	possibly damaging	Het
Vav3	T	A	3: 109,470,151 (GRCm39)	M532K	possibly damaging	Het
Zfp616	A	T	11: 73,975,850 (GRCm39)	K706N	probably damaging	Het
Zkscan1	T	C	5: 138,091,432 (GRCm39)	F55S	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCTATCACATCCAGTTCTATTGCCCAG -3'
(R):5'- ACTCGATGCTTCACTAGCAAAGCC -3'

Sequencing Primer
(F):5'- CATGGTCCCGCCTCTAAG -3'
(R):5'- CAACAAAGCGCCTCGGATG -3'

Posted On

2013-11-07