Mutagenetix > Incidental Mutation

Incidental Mutation 'R5032:Gmps'

391737

Institutional Source

Beutler Lab

Gene Symbol

Gmps

Ensembl Gene

ENSMUSG00000027823

Gene Name

guanine monophosphate synthetase

Synonyms

Gm9479

MMRRC Submission

042623-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63883527-63930000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63897746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 233 (K233E)

Ref Sequence

ENSEMBL: ENSMUSP00000029405 (fasta)

Gene Model

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

AlphaFold

Q3THK7

Predicted Effect

probably benign
Transcript: ENSMUST00000029405
AA Change: K233E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: K233E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Actl9	A	G	17: 33,653,062 (GRCm39)	N374S	probably benign	Het
Adam34l	T	C	8: 44,079,508 (GRCm39)	N239D	probably damaging	Het
Ahcyl2	T	A	6: 29,768,555 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,720,464 (GRCm39)	M1501T	probably benign	Het
Asb17	A	T	3: 153,550,175 (GRCm39)	D69V	probably damaging	Het
Atp13a5	T	C	16: 29,082,202 (GRCm39)	Y877C	probably damaging	Het
Atrip	T	C	9: 108,894,271 (GRCm39)	Q64R	probably benign	Het
Auts2	A	G	5: 131,505,730 (GRCm39)		probably benign	Het
Cacna2d1	G	T	5: 16,564,068 (GRCm39)	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,409,458 (GRCm39)	R596C	probably damaging	Het
Cd163	A	G	6: 124,288,628 (GRCm39)	Y353C	probably damaging	Het
Cdon	T	C	9: 35,400,330 (GRCm39)	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,312,543 (GRCm39)	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,136,744 (GRCm39)	W190R	probably benign	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Duox1	G	A	2: 122,167,798 (GRCm39)	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,593,326 (GRCm39)	Q1198*	probably null	Het
Ecel1	G	A	1: 87,081,975 (GRCm39)	S246L	probably damaging	Het
Fam228b	T	G	12: 4,813,042 (GRCm39)	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,939,159 (GRCm39)	R814G	probably damaging	Het
Gramd1c	A	G	16: 43,811,026 (GRCm39)	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,673,882 (GRCm39)	D134E	possibly damaging	Het
Gxylt2	A	G	6: 100,760,142 (GRCm39)	I226V	probably benign	Het
Hc	T	C	2: 34,903,544 (GRCm39)	I1037V	probably benign	Het
Hspa4	T	G	11: 53,179,950 (GRCm39)	R69S	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,829,354 (GRCm39)	S508P	probably damaging	Het
Krt7	G	A	15: 101,310,428 (GRCm39)	R25H	probably benign	Het
Lhfpl6	T	A	3: 52,950,854 (GRCm39)	S43T	possibly damaging	Het
Lrrc7	T	A	3: 157,887,217 (GRCm39)	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,566,240 (GRCm39)	L28Q	probably damaging	Het
Mdc1	A	G	17: 36,161,481 (GRCm39)	E798G	probably benign	Het
Mta1	T	A	12: 113,097,145 (GRCm39)		probably null	Het
Mtg2	A	T	2: 179,725,183 (GRCm39)	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,096,874 (GRCm39)	E382*	probably null	Het
Myo3a	T	C	2: 22,287,413 (GRCm39)	L175P	probably damaging	Het
Nckap5	A	T	1: 125,904,786 (GRCm39)	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,300,351 (GRCm39)		probably null	Het
Nmt2	C	T	2: 3,285,429 (GRCm39)	P5L	probably benign	Het
Nsmf	T	C	2: 24,945,073 (GRCm39)		probably null	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or5a1	T	A	19: 12,097,420 (GRCm39)	I219F	probably benign	Het
Pcdhgc3	T	A	18: 37,940,638 (GRCm39)	N346K	probably damaging	Het
Pcnt	G	A	10: 76,190,911 (GRCm39)	P2791S	probably benign	Het
Pdia3	A	G	2: 121,244,620 (GRCm39)	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,841,928 (GRCm39)	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,283,520 (GRCm39)	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,112,176 (GRCm39)	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,440,336 (GRCm39)	S845P	probably damaging	Het
Prdm2	A	T	4: 142,905,937 (GRCm39)	L50*	probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,053,140 (GRCm39)	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,925,799 (GRCm39)	N139K	probably damaging	Het
Rcn2	T	A	9: 55,960,300 (GRCm39)	M189K	probably damaging	Het
Rev1	A	T	1: 38,113,570 (GRCm39)		probably benign	Het
Rhbg	C	A	3: 88,152,441 (GRCm39)	G368C	probably damaging	Het
Rnf214	A	G	9: 45,811,042 (GRCm39)		probably null	Het
Sf3a3	T	C	4: 124,618,959 (GRCm39)	S307P	probably benign	Het
Slc6a18	T	A	13: 73,814,442 (GRCm39)	Y494F	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag16	T	G	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Tmem192	T	C	8: 65,412,163 (GRCm39)	V114A	possibly damaging	Het
Urb1	G	T	16: 90,553,059 (GRCm39)	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,419,459 (GRCm39)	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,036,162 (GRCm39)	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,356,014 (GRCm39)	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,560,842 (GRCm39)	V232E	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
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
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'- CCTTGAAGGTATAGCCAATGAATC -3'
(R):5'- AGTTGAATCTACACCACCACTG -3'

Sequencing Primer
(F):5'- GCCAATGAATCTAAAAAGCTATACGG -3'
(R):5'- TCTACACCACCACTGAGTAAAACCTG -3'

Posted On

2016-06-06