Mutagenetix > Incidental Mutation

Incidental Mutation 'R0466:Gmps'

41622

Institutional Source

Beutler Lab

Gene Symbol

Gmps

Ensembl Gene

ENSMUSG00000027823

Gene Name

guanine monophosphate synthetase

Synonyms

Gm9479

MMRRC Submission

038666-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0466 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

63883527-63930000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63901365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 395 (T395A)

Ref Sequence

ENSEMBL: ENSMUSP00000029405 (fasta)

Gene Model

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

AlphaFold

Q3THK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029405
AA Change: T395A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: T395A

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

0.2728

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

97% (63/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,887,321 (GRCm39)	Y373C	probably benign	Het
Abca12	T	G	1: 71,341,822 (GRCm39)	Q1046H	probably damaging	Het
Adgrv1	A	G	13: 81,714,415 (GRCm39)	F956S	probably benign	Het
Alk	A	G	17: 72,212,152 (GRCm39)	V797A	possibly damaging	Het
Ascl2	A	G	7: 142,522,217 (GRCm39)	L77P	probably benign	Het
Aspm	A	T	1: 139,405,639 (GRCm39)	I1509F	probably damaging	Het
AY358078	A	T	14: 52,043,089 (GRCm39)	Y259F	unknown	Het
Cbs	G	A	17: 31,835,126 (GRCm39)	A450V	probably benign	Het
Cdh11	T	A	8: 103,396,690 (GRCm39)	Q213L	possibly damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cfap126	T	C	1: 170,953,769 (GRCm39)	I113T	probably damaging	Het
Clk4	A	G	11: 51,158,155 (GRCm39)	D53G	possibly damaging	Het
Dab1	T	C	4: 104,577,747 (GRCm39)	L272P	probably benign	Het
Dmtf1	A	T	5: 9,182,454 (GRCm39)		probably null	Het
Dph5	A	C	3: 115,722,359 (GRCm39)	D279A	probably benign	Het
Fbxw19	T	A	9: 109,307,717 (GRCm39)	T461S	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gcg	T	C	2: 62,307,282 (GRCm39)	D93G	probably damaging	Het
H2-Ob	A	G	17: 34,461,633 (GRCm39)	D124G	probably damaging	Het
Itga8	G	T	2: 12,237,697 (GRCm39)	A341E	probably damaging	Het
Itih3	A	G	14: 30,634,831 (GRCm39)		probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kif2c	C	T	4: 117,029,489 (GRCm39)	R215Q	possibly damaging	Het
Letm1	A	C	5: 33,919,074 (GRCm39)		probably benign	Het
Lypd8l	T	C	11: 58,503,331 (GRCm39)		probably benign	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Myh8	G	T	11: 67,189,405 (GRCm39)	A1194S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nfib	A	C	4: 82,416,775 (GRCm39)	Y87D	probably damaging	Het
Nlrp4a	T	C	7: 26,162,045 (GRCm39)		probably benign	Het
Nsmce1	A	T	7: 125,071,408 (GRCm39)		probably benign	Het
Odad2	T	A	18: 7,286,758 (GRCm39)	I158F	probably benign	Het
Or7g12	T	G	9: 18,899,551 (GRCm39)	V89G	probably benign	Het
Or7g27	A	T	9: 19,250,475 (GRCm39)	T240S	probably damaging	Het
Patj	C	A	4: 98,576,393 (GRCm39)	Q1193K	probably damaging	Het
Pcdhb5	G	A	18: 37,455,596 (GRCm39)	V659M	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pmis2	T	C	7: 30,370,817 (GRCm39)	I46V	probably benign	Het
Ppp2r5e	A	G	12: 75,509,216 (GRCm39)		probably benign	Het
Prom2	A	G	2: 127,370,709 (GRCm39)	F825S	probably damaging	Het
Rab11fip2	G	A	19: 59,894,675 (GRCm39)	A524V	possibly damaging	Het
Rb1cc1	A	C	1: 6,333,491 (GRCm39)		probably null	Het
Rwdd3	G	C	3: 120,952,668 (GRCm39)	Q180E	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgcg	A	T	14: 61,459,135 (GRCm39)	C265S	probably damaging	Het
Slc16a3	T	C	11: 120,848,878 (GRCm39)	S445P	possibly damaging	Het
Slc22a3	G	A	17: 12,677,380 (GRCm39)	Q263*	probably null	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tbc1d15	T	C	10: 115,055,077 (GRCm39)	K322E	probably damaging	Het
Tecta	G	T	9: 42,284,369 (GRCm39)	F905L	probably benign	Het
Tmeff1	A	G	4: 48,636,853 (GRCm39)	I184V	possibly damaging	Het
Ttf1	A	G	2: 28,955,419 (GRCm39)	H261R	possibly damaging	Het
Ttll6	T	A	11: 96,036,417 (GRCm39)	L349M	probably damaging	Het
Ubac2	G	A	14: 122,211,031 (GRCm39)	V134M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r25	T	G	6: 123,829,008 (GRCm39)	I89L	probably benign	Het
Vmn2r6	A	C	3: 64,463,723 (GRCm39)	F370L	probably damaging	Het
Vps13b	T	A	15: 35,445,748 (GRCm39)	Y412*	probably null	Het
Zfp142	A	G	1: 74,624,570 (GRCm39)	S85P	possibly damaging	Het
Zfp516	G	A	18: 82,975,579 (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
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

Predicted Primers

PCR Primer
(F):5'- TCTGCTCTCGTGGTAACAGATTGC -3'
(R):5'- GCCTTGGCTGTGTAACAAGTCAAAG -3'

Sequencing Primer
(F):5'- CTCGTGGTAACAGATTGCCAATG -3'
(R):5'- gtgggaggcagaggcag -3'

Posted On

2013-05-23