Mutagenetix > Incidental Mutation

Incidental Mutation 'R9393:Gmps'

710650

Institutional Source

Beutler Lab

Gene Symbol

Gmps

Ensembl Gene

ENSMUSG00000027823

Gene Name

guanine monophosphate synthetase

Synonyms

Gm9479

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63883527-63930000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63900640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 305 (N305K)

Ref Sequence

ENSEMBL: ENSMUSP00000029405 (fasta)

Gene Model

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

AlphaFold

Q3THK7

Predicted Effect

probably benign
Transcript: ENSMUST00000029405
AA Change: N305K

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: N305K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,616,270 (GRCm39)	S133G	possibly damaging	Het
Agps	A	G	2: 75,735,256 (GRCm39)	E567G	possibly damaging	Het
Ak9	T	C	10: 41,285,068 (GRCm39)	I1381T	unknown	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arrb1	T	A	7: 99,238,891 (GRCm39)	C150S	probably damaging	Het
Asz1	T	C	6: 18,051,330 (GRCm39)	I450V	probably benign	Het
Atp10b	A	G	11: 43,063,608 (GRCm39)	N181S	probably damaging	Het
Bptf	A	C	11: 106,965,134 (GRCm39)	D1353E	probably benign	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc106	T	A	7: 5,059,200 (GRCm39)	I6N	possibly damaging	Het
Celf6	A	T	9: 59,510,525 (GRCm39)	Q252L	probably benign	Het
Colgalt2	A	T	1: 152,360,598 (GRCm39)	K212*	probably null	Het
Cryba4	T	C	5: 112,394,632 (GRCm39)	S166G	probably benign	Het
Cyp2w1	A	G	5: 139,342,035 (GRCm39)	E123G	probably benign	Het
Cyp4a10	G	C	4: 115,382,566 (GRCm39)	K285N	probably damaging	Het
Cyth1	G	T	11: 118,074,710 (GRCm39)	T197K	probably benign	Het
Ddhd1	A	G	14: 45,894,685 (GRCm39)	W262R	probably damaging	Het
Dnah8	T	A	17: 30,872,361 (GRCm39)	V450D	possibly damaging	Het
Eml5	C	T	12: 98,842,433 (GRCm39)	V222I	probably benign	Het
Fbxw19	A	G	9: 109,324,873 (GRCm39)	S15P	probably damaging	Het
Fhip2b	G	A	14: 70,831,463 (GRCm39)	Q24*	probably null	Het
Fignl2	C	A	15: 100,951,466 (GRCm39)	R272L	unknown	Het
Gm10842	A	T	11: 105,037,885 (GRCm39)	D56V	unknown	Het
Gnai1	A	T	5: 18,565,055 (GRCm39)	L38Q		Het
Golim4	A	T	3: 75,785,464 (GRCm39)	D642E	probably benign	Het
Gp1ba	A	T	11: 70,531,293 (GRCm39)	Q353L	unknown	Het
Gpnmb	T	C	6: 49,024,996 (GRCm39)	S343P	possibly damaging	Het
Hexb	G	A	13: 97,313,336 (GRCm39)	R507*	probably null	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Khsrp	T	C	17: 57,330,350 (GRCm39)	Y585C	probably damaging	Het
Kif21a	A	T	15: 90,853,981 (GRCm39)	D795E	probably benign	Het
Klkb1	A	T	8: 45,729,392 (GRCm39)	V309E	probably benign	Het
Krtap9-1	C	A	11: 99,764,664 (GRCm39)	C133*	probably null	Het
Krtcap2	T	C	3: 89,153,578 (GRCm39)		probably benign	Het
Lilra5	T	C	7: 4,240,758 (GRCm39)	M1T	probably null	Het
Magi1	G	A	6: 93,659,890 (GRCm39)	T1019I	probably benign	Het
Mdn1	T	A	4: 32,713,825 (GRCm39)	H1967Q		Het
Mgat4f	A	G	1: 134,318,596 (GRCm39)	D456G	probably benign	Het
Mroh2b	A	T	15: 4,980,666 (GRCm39)	T1412S	probably benign	Het
Myh13	A	T	11: 67,242,894 (GRCm39)	M936L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ncapd3	A	G	9: 26,962,682 (GRCm39)	T373A	possibly damaging	Het
Noc2l	T	C	4: 156,320,784 (GRCm39)		probably null	Het
Nrg4	C	T	9: 55,149,420 (GRCm39)	S59N	probably benign	Het
Nrip1	A	G	16: 76,091,353 (GRCm39)	V68A	probably benign	Het
Or11g24	T	C	14: 50,662,255 (GRCm39)	V93A	probably benign	Het
Or9k2	T	C	10: 129,999,016 (GRCm39)	T60A	probably benign	Het
Pcdhga6	G	T	18: 37,840,212 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,475,955 (GRCm39)	N196S	probably damaging	Het
Ppp4r4	T	A	12: 103,571,296 (GRCm39)	Y787*	probably null	Het
Psma8	G	A	18: 14,839,298 (GRCm39)	R4Q	probably null	Het
Reg4	A	G	3: 98,137,168 (GRCm39)	K46E	probably benign	Het
Rnf14	T	A	18: 38,442,680 (GRCm39)	M327K	possibly damaging	Het
Rtn1	A	T	12: 72,263,586 (GRCm39)	Y753*	probably null	Het
Slc26a11	A	G	11: 119,259,627 (GRCm39)	R275G	probably benign	Het
Stard9	A	G	2: 120,518,656 (GRCm39)	T527A	possibly damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas1r1	C	T	4: 152,116,413 (GRCm39)	C407Y	probably damaging	Het
Tcstv1b	A	T	13: 120,634,958 (GRCm39)	Y80F	probably benign	Het
Tenm3	A	G	8: 49,127,559 (GRCm39)	S40P	probably damaging	Het
Tespa1	T	A	10: 130,183,066 (GRCm39)	S4T	probably damaging	Het
Tlr11	A	G	14: 50,599,547 (GRCm39)	N511S	probably benign	Het
Tmprss15	A	G	16: 78,754,211 (GRCm39)	I1014T	probably benign	Het
Tpte	T	A	8: 22,774,990 (GRCm39)	M20K	probably benign	Het
Ttn	A	G	2: 76,612,390 (GRCm39)	V17199A	possibly damaging	Het
Tubgcp3	A	G	8: 12,703,411 (GRCm39)	Y305H	probably damaging	Het
Ubr4	T	A	4: 139,212,613 (GRCm39)	V5081E	unknown	Het
Unkl	T	C	17: 25,448,392 (GRCm39)	S322P	probably damaging	Het
Uqcc6	A	G	10: 82,458,475 (GRCm39)	S59P	unknown	Het
Vav3	T	A	3: 109,485,682 (GRCm39)		probably null	Het
Vmn1r76	A	G	7: 11,664,765 (GRCm39)	S150P	probably benign	Het
Xpot	A	G	10: 121,445,600 (GRCm39)		probably null	Het
Xylt1	A	G	7: 117,242,906 (GRCm39)	I650V	probably benign	Het
Zan	C	A	5: 137,403,682 (GRCm39)	A3955S	unknown	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
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
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'- AGATCTGACCTGTTACTGCTGG -3'
(R):5'- CAGAATTAGCAAAGTTTGGCATGTG -3'

Sequencing Primer
(F):5'- ACCTGTTACTGCTGGTTTATTGC -3'
(R):5'- AGCAAAGTTTGGCATGTGATATG -3'

Posted On

2022-04-18