Mutagenetix > Incidental Mutations

Incidental Mutation 'R1751:Gart'

193556

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

039783-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.983) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91621186-91646952 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 91642949 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000114036] [ENSMUST00000114037] [ENSMUST00000117633] [ENSMUST00000119368] [ENSMUST00000120450] [ENSMUST00000122302] [ENSMUST00000140312] [ENSMUST00000156713] [ENSMUST00000231380] [ENSMUST00000231444] [ENSMUST00000232289] [ENSMUST00000232367]

Predicted Effect

probably benign
Transcript: ENSMUST00000023684

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962

Domain	Start	End	E-Value	Type
Pfam:GARS_N	3	104	6.4e-37	PFAM
GARS_A	105	298	4.42e-132	SMART
GARS_C	333	426	1.33e-44	SMART
Pfam:AIRS	473	593	1.2e-17	PFAM
Pfam:AIRS_C	606	777	9e-40	PFAM
Pfam:Formyl_trans_N	808	988	3.4e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114036

SMART Domains

Protein: ENSMUSP00000109670
Gene: ENSMUSG00000022961

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	1.65e-7	PROSPERO
internal_repeat_2	214	362	6.55e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	1.65e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	6.55e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114037

SMART Domains

Protein: ENSMUSP00000109671
Gene: ENSMUSG00000022961

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	1.71e-7	PROSPERO
internal_repeat_2	214	362	7.05e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	1.71e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	7.05e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC
low complexity region	2149	2155	N/A	INTRINSIC
G_patch	2321	2367	1.15e-17	SMART
Pfam:DND1_DSRM	2388	2442	5.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117633

SMART Domains

Protein: ENSMUSP00000112453
Gene: ENSMUSG00000022961

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	1.59e-7	PROSPERO
internal_repeat_2	214	362	6.63e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	1.59e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	6.63e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
Pfam:RSRP	1909	2216	1e-12	PFAM
G_patch	2321	2367	1.15e-17	SMART
DSRM	2390	2458	5.37e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119368

SMART Domains

Protein: ENSMUSP00000113129
Gene: ENSMUSG00000022961

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	2.22e-7	PROSPERO
internal_repeat_2	214	362	8.67e-6	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	2.22e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	8.67e-6	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC
low complexity region	2149	2155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120450

SMART Domains

Protein: ENSMUSP00000114034
Gene: ENSMUSG00000022962

Domain	Start	End	E-Value	Type
Pfam:GARS_N	3	104	1.8e-40	PFAM
GARS_A	105	298	4.42e-132	SMART
GARS_C	333	426	1.33e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122302

SMART Domains

Protein: ENSMUSP00000113615
Gene: ENSMUSG00000022961

Domain	Start	End	E-Value	Type
low complexity region	90	101	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	159	165	N/A	INTRINSIC
G_patch	331	377	1.15e-17	SMART
Pfam:DND1_DSRM	398	452	7.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140312

SMART Domains

Protein: ENSMUSP00000122320
Gene: ENSMUSG00000022961

Domain	Start	End	E-Value	Type
coiled coil region	106	132	N/A	INTRINSIC
internal_repeat_1	155	350	2.93e-7	PROSPERO
internal_repeat_2	214	362	1.1e-5	PROSPERO
low complexity region	391	403	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
internal_repeat_1	507	750	2.93e-7	PROSPERO
low complexity region	975	1021	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1141	1172	N/A	INTRINSIC
internal_repeat_2	1208	1347	1.1e-5	PROSPERO
low complexity region	1354	1376	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1805	1811	N/A	INTRINSIC
low complexity region	1838	2067	N/A	INTRINSIC
low complexity region	2080	2091	N/A	INTRINSIC
low complexity region	2094	2105	N/A	INTRINSIC
low complexity region	2149	2155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156713

SMART Domains

Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962

Domain	Start	End	E-Value	Type
Pfam:GARS_N	3	104	1.4e-40	PFAM
GARS_A	105	298	4.42e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231380

Predicted Effect

probably benign
Transcript: ENSMUST00000231444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231863

Predicted Effect

probably benign
Transcript: ENSMUST00000232289

Predicted Effect

probably benign
Transcript: ENSMUST00000232367

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	A	14: 49,235,884	T128I	probably benign	Het
Adam26b	T	A	8: 43,519,911	I685F	probably benign	Het
Alcam	A	T	16: 52,270,714	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,643,953	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,718,376	I1189N	probably damaging	Het
AU040320	G	A	4: 126,840,724	G713D	probably damaging	Het
Bank1	G	T	3: 136,234,614	R203S	probably benign	Het
Bank1	A	G	3: 136,254,937	V53A	probably benign	Het
Cacna1g	T	C	11: 94,459,802	S406G	probably benign	Het
Ccdc40	T	A	11: 119,230,696		probably null	Het
Cdc5l	A	T	17: 45,407,805	D628E	probably benign	Het
Chd3	G	A	11: 69,353,901		probably benign	Het
Clstn3	A	T	6: 124,431,999	W860R	probably damaging	Het
Cntn4	G	A	6: 106,618,410		probably null	Het
Coq10b	A	G	1: 55,061,354	R66G	probably damaging	Het
Cpn2	A	T	16: 30,259,667	Y405*	probably null	Het
Cyp2b9	T	C	7: 26,186,675	V89A	probably benign	Het
Depdc1a	T	C	3: 159,523,287	C559R	probably damaging	Het
Ephx1	C	T	1: 180,994,677	G101S	probably damaging	Het
Fam20a	A	T	11: 109,677,838	N287K	probably damaging	Het
Flg	A	T	3: 93,279,913	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643	R242C	probably damaging	Het
Gm11116	T	C	5: 88,111,452		probably benign	Het
Gm5519	T	C	19: 33,824,991	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 132,234,887	Q154*	probably null	Het
Gnas	T	A	2: 174,297,894		probably benign	Het
Greb1	A	G	12: 16,723,438		probably benign	Het
Grin3a	A	T	4: 49,844,423	V220E	probably damaging	Het
Gstt2	T	C	10: 75,834,264	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,748,775		probably benign	Het
Igf2r	A	C	17: 12,697,441	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,690	L1274P	probably benign	Het
Krt13	A	C	11: 100,121,100	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,737,449	V627A	probably benign	Het
Lrp6	A	G	6: 134,464,568	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Ly96	A	G	1: 16,706,175	T112A	probably benign	Het
Meltf	G	T	16: 31,883,929	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,248,405	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,667,408	T914S	probably benign	Het
Npas4	G	A	19: 4,988,183	P199L	probably benign	Het
Olfr109	A	T	17: 37,466,901	M232L	probably benign	Het
Pcdh10	A	T	3: 45,384,177	H923L	probably damaging	Het
Pcp4	A	C	16: 96,525,489	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,251,904		probably benign	Het
Pias3	T	C	3: 96,701,403	S228P	probably damaging	Het
Pign	A	G	1: 105,653,192	V154A	probably benign	Het
Pik3c2a	A	C	7: 116,346,236	V1445G	probably damaging	Het
Plod3	T	A	5: 136,990,176	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,849,815		probably benign	Het
Prkra	G	T	2: 76,647,240	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,873,628	D49V	possibly damaging	Het
Rfx2	A	G	17: 56,784,754	V313A	probably benign	Het
Robo2	A	G	16: 74,035,024	V256A	probably damaging	Het
Rtp1	A	G	16: 23,431,374	E163G	probably damaging	Het
Sbpl	A	G	17: 23,954,803		probably null	Het
Scg3	G	A	9: 75,669,340	T251M	probably damaging	Het
Setbp1	T	C	18: 78,857,398	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,350,108	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,637,100	I522F	probably damaging	Het
Smarca2	T	C	19: 26,640,380		probably benign	Het
Ssbp3	G	T	4: 107,047,415	D336Y	probably damaging	Het
Stox1	T	C	10: 62,659,666	T943A	probably damaging	Het
Sun2	A	G	15: 79,725,557	S694P	probably benign	Het
Tdp1	G	A	12: 99,891,343		probably null	Het
Tfap2a	A	T	13: 40,725,137	I204N	probably damaging	Het
Tfip11	T	A	5: 112,334,432	W519R	probably damaging	Het
Tie1	T	C	4: 118,476,176	E831G	possibly damaging	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,693,183	I78M	possibly damaging	Het
Trank1	T	C	9: 111,391,479	V2428A	probably benign	Het
Trim35	A	G	14: 66,304,168	E247G	probably damaging	Het
Trpc7	T	A	13: 56,776,143	D743V	probably damaging	Het
Trrap	T	C	5: 144,814,575		probably null	Het
Tsc1	A	G	2: 28,676,026	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,418,102	S674P	probably damaging	Het
Tsn	A	T	1: 118,300,888	D201E	probably damaging	Het
Tsr3	T	C	17: 25,242,639	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,456,896	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,187,271	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,462,524	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,772,675	L228Q	probably damaging	Het
Zfp108	C	A	7: 24,261,896	H637Q	probably damaging	Het

Other mutations in Gart

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Gart	APN	16	91638789	missense	possibly damaging	0.58
IGL00837:Gart	APN	16	91638720	unclassified	probably benign
IGL01010:Gart	APN	16	91643092	nonsense	probably null
IGL01064:Gart	APN	16	91623007	missense	probably damaging	1.00
IGL01451:Gart	APN	16	91625512	missense	probably benign
IGL02084:Gart	APN	16	91621600	missense	probably benign
IGL02301:Gart	APN	16	91621837	splice site	probably benign
IGL02814:Gart	APN	16	91623457	missense	possibly damaging	0.58
sylvester	UTSW	16	91630602	splice site	probably benign
R0137:Gart	UTSW	16	91625394	missense	probably benign
R0197:Gart	UTSW	16	91623403	missense	possibly damaging	0.95
R0321:Gart	UTSW	16	91623037	unclassified	probably benign
R0322:Gart	UTSW	16	91623037	unclassified	probably benign
R0398:Gart	UTSW	16	91639449	missense	probably damaging	1.00
R0410:Gart	UTSW	16	91641327	missense	probably damaging	1.00
R0496:Gart	UTSW	16	91623037	unclassified	probably benign
R0620:Gart	UTSW	16	91630602	splice site	probably benign
R0628:Gart	UTSW	16	91633902	missense	probably benign	0.01
R0883:Gart	UTSW	16	91623403	missense	possibly damaging	0.95
R1346:Gart	UTSW	16	91628182	splice site	probably null
R1490:Gart	UTSW	16	91624344	missense	probably damaging	1.00
R1686:Gart	UTSW	16	91625349	missense	probably damaging	1.00
R1917:Gart	UTSW	16	91628149	missense	probably damaging	1.00
R2144:Gart	UTSW	16	91630081	missense	probably damaging	1.00
R2421:Gart	UTSW	16	91643040	unclassified	probably null
R4305:Gart	UTSW	16	91633992	missense	possibly damaging	0.48
R4377:Gart	UTSW	16	91634094	missense	probably benign	0.31
R4599:Gart	UTSW	16	91622945	nonsense	probably null
R4619:Gart	UTSW	16	91625433	missense	probably damaging	1.00
R4620:Gart	UTSW	16	91625433	missense	probably damaging	1.00
R5112:Gart	UTSW	16	91634045	missense	probably benign	0.02
R5902:Gart	UTSW	16	91628527	missense	probably damaging	1.00
R5975:Gart	UTSW	16	91624336	missense	probably damaging	1.00
R6736:Gart	UTSW	16	91636107	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TGGCTCAGAAGGCTTAAGGGACAC -3'
(R):5'- TCGCCTATGGTTTACTTTCAGCAGG -3'

Sequencing Primer
(F):5'- GGACACTAAGCTTTGTTCCCC -3'
(R):5'- GGTTGCATTTTGTTTCTGAATCCC -3'

Posted On

2014-05-23