Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Gmps'

24091

Institutional Source

Beutler Lab

Gene Symbol

Gmps

Ensembl Gene

ENSMUSG00000027823

Gene Name

guanine monophosphate synthetase

Synonyms

Gm9479

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

63976106-64022579 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63993954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 398 (I398N)

Ref Sequence

ENSEMBL: ENSMUSP00000029405 (fasta)

Gene Model

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

AlphaFold

Q3THK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029405
AA Change: I398N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: I398N

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

0.7442

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184		probably benign	Het
Abca15	T	A	7: 120,350,903		probably benign	Het
Abca6	A	G	11: 110,219,604	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863		probably benign	Het
Agap3	A	G	5: 24,479,745	T544A	probably damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akr1c20	T	C	13: 4,523,296	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127		probably null	Het
Brd1	T	C	15: 88,729,777	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,373,280	N228T	probably benign	Het
Dapk1	T	C	13: 60,761,593	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Ddhd1	G	A	14: 45,595,592	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646		probably benign	Het
Epha2	T	C	4: 141,321,892		probably null	Het
Ern2	T	C	7: 122,179,779	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499		probably null	Het
Gm7535	T	C	17: 17,911,175		probably benign	Het
Igf2r	A	G	17: 12,698,527	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366		probably benign	Het
Lama3	A	T	18: 12,524,810	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519		probably benign	Het
Meiob	A	G	17: 24,835,161	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748		probably null	Het
Olfr486	T	C	7: 108,172,675	D23G	probably benign	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514		probably benign	Het
Prune2	T	A	19: 17,122,610	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055	E7D	probably benign	Het
Rala	A	T	13: 17,888,589	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487		probably benign	Het
Rbl2	T	A	8: 91,074,176	Y89N	probably damaging	Het
Rho	A	T	6: 115,932,227	I75F	probably damaging	Het
Slc38a4	C	A	15: 97,008,949	A303S	probably benign	Het
Slc6a15	A	G	10: 103,409,809	D551G	probably null	Het
Smyd3	T	C	1: 179,043,872	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514	L180*	probably null	Het
Stat6	T	C	10: 127,657,227	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202		probably null	Het
Tcf3	C	T	10: 80,412,997	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139		probably benign	Het
Tmprss11c	A	T	5: 86,231,927		probably benign	Het
Tnfsf18	A	G	1: 161,494,731	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670		probably null	Het
Trpm7	A	T	2: 126,797,513	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vwce	T	C	19: 10,659,973		probably benign	Het
Wdhd1	A	G	14: 47,267,068	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404	S560P	probably damaging	Het

Other mutations in Gmps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Gmps	APN	3	64014367	missense	probably benign
IGL01341:Gmps	APN	3	64015440	missense	probably damaging	1.00
IGL01369:Gmps	APN	3	64001592	missense	probably benign	0.00
IGL02332:Gmps	APN	3	63990569	missense	probably benign	0.01
IGL02481:Gmps	APN	3	64014352	missense	probably damaging	1.00
IGL02483:Gmps	APN	3	64014352	missense	probably damaging	1.00
IGL03173:Gmps	APN	3	63990329	missense	probably damaging	0.98
K3955:Gmps	UTSW	3	64001533	missense	probably damaging	1.00
R0089:Gmps	UTSW	3	63998698	missense	probably benign	0.20
R0466:Gmps	UTSW	3	63993944	missense	probably damaging	0.97
R0940:Gmps	UTSW	3	63976322	splice site	probably benign
R1686:Gmps	UTSW	3	63985654	missense	probably damaging	1.00
R1872:Gmps	UTSW	3	64001517	missense	probably benign	0.15
R1924:Gmps	UTSW	3	63998628	missense	probably damaging	1.00
R2229:Gmps	UTSW	3	64014263	nonsense	probably null
R3014:Gmps	UTSW	3	64015436	missense	possibly damaging	0.79
R3800:Gmps	UTSW	3	63982445	missense	possibly damaging	0.48
R4118:Gmps	UTSW	3	63980194	missense	probably benign	0.00
R4293:Gmps	UTSW	3	63990619	missense	probably damaging	0.99
R4596:Gmps	UTSW	3	63993917	nonsense	probably null
R4665:Gmps	UTSW	3	64001535	missense	probably benign	0.11
R5032:Gmps	UTSW	3	63990325	missense	probably benign	0.01
R6045:Gmps	UTSW	3	63980137	missense	probably benign
R6153:Gmps	UTSW	3	64001543	missense	probably benign	0.00
R6985:Gmps	UTSW	3	64015539	missense	probably damaging	1.00
R7188:Gmps	UTSW	3	64011561	missense	probably damaging	0.97
R7523:Gmps	UTSW	3	64011666	missense	possibly damaging	0.78
R7724:Gmps	UTSW	3	63985653	missense	possibly damaging	0.85
R7806:Gmps	UTSW	3	63982670	splice site	probably null
R7819:Gmps	UTSW	3	63985627	missense	probably damaging	1.00
R7849:Gmps	UTSW	3	64015563	missense	probably benign	0.33
R8113:Gmps	UTSW	3	63980269	missense	probably damaging	0.99
R8351:Gmps	UTSW	3	63980194	missense	probably benign	0.00
R8491:Gmps	UTSW	3	64014358	missense	probably benign	0.07
R8947:Gmps	UTSW	3	63998677	missense	probably damaging	0.96
R9233:Gmps	UTSW	3	64016712	missense	probably damaging	1.00
R9334:Gmps	UTSW	3	63982443	missense	probably damaging	1.00
R9393:Gmps	UTSW	3	63993219	missense	probably benign	0.35
R9639:Gmps	UTSW	3	64015517	missense	probably damaging	1.00
R9672:Gmps	UTSW	3	63990329	missense	probably damaging	0.98
X0063:Gmps	UTSW	3	63996850	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2013-04-16