Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Gart'

249329

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Prgs, Gaps

MMRRC Submission

040383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91418074-91443840 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 91439928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113615 (fasta)

Gene Model

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

AlphaFold

Q64737

Predicted Effect

probably damaging
Transcript: ENSMUST00000023684
AA Change: L21P

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

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: L21P

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 null
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 null
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 null
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 null
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 damaging
Transcript: ENSMUST00000120450
AA Change: L21P

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

SMART Domains

Protein: ENSMUSP00000114034
Gene: ENSMUSG00000022962
AA Change: L21P

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 null
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 damaging
Transcript: ENSMUST00000156713
AA Change: L21P

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

SMART Domains

Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962
AA Change: L21P

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 damaging
Transcript: ENSMUST00000231444
AA Change: L21P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232289
AA Change: L21P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231380
AA Change: L21P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232367
AA Change: L21P

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

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

noncoding transcript
Transcript: ENSMUST00000231702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231863

Meta Mutation Damage Score

0.9719

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,386,166 (GRCm39)	L1118Q	probably damaging	Het
Adgre4	A	G	17: 56,085,872 (GRCm39)	E57G	probably benign	Het
Alpk2	T	C	18: 65,439,687 (GRCm39)	S1036G	probably benign	Het
Ank3	T	C	10: 69,818,034 (GRCm39)		probably benign	Het
Ankfy1	T	A	11: 72,646,722 (GRCm39)		probably benign	Het
Antxrl	A	G	14: 33,793,646 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,856,585 (GRCm39)	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,609,346 (GRCm39)	T1025S	probably damaging	Het
Arhgef12	A	T	9: 42,912,302 (GRCm39)	C519S	probably damaging	Het
Aspm	G	A	1: 139,416,225 (GRCm39)	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,168,643 (GRCm39)	T449A	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,574,064 (GRCm39)	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,329,103 (GRCm39)		probably benign	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,647,996 (GRCm39)		probably benign	Het
Coq10b	G	A	1: 55,092,136 (GRCm39)	A35T	probably benign	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Creb3l3	T	C	10: 80,927,652 (GRCm39)	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,914,160 (GRCm39)	I15N	probably benign	Het
Dcp1b	A	G	6: 119,192,227 (GRCm39)	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Dnal1	C	T	12: 84,183,480 (GRCm39)	Q80*	probably null	Het
Dtd2	A	G	12: 52,046,638 (GRCm39)	V67A	probably benign	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,577,958 (GRCm39)		noncoding transcript	Het
Gm8674	T	C	13: 50,054,699 (GRCm39)		noncoding transcript	Het
Gpr107	G	A	2: 31,075,541 (GRCm39)	G351S	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lenep	G	A	3: 89,309,881 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 40,772,145 (GRCm39)		probably benign	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787 (GRCm39)	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621 (GRCm39)	I2519K	probably damaging	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,432,061 (GRCm39)	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or13a1	T	A	6: 116,470,674 (GRCm39)	C35S	probably benign	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5k8	T	C	16: 58,644,709 (GRCm39)	D121G	probably damaging	Het
Pef1	C	A	4: 130,021,110 (GRCm39)	C221*	probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,732,517 (GRCm39)	I460N	probably benign	Het
Ppfia4	T	C	1: 134,255,138 (GRCm39)	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Prlr	T	A	15: 10,319,343 (GRCm39)	W91R	probably damaging	Het
Psmd2	T	A	16: 20,478,856 (GRCm39)		probably null	Het
Ptprt	T	A	2: 162,119,960 (GRCm39)		probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Rbm12b2	T	C	4: 12,095,127 (GRCm39)	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,163,057 (GRCm39)	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,606,123 (GRCm39)	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,556,646 (GRCm39)		probably benign	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Syt9	G	A	7: 107,035,988 (GRCm39)	R335K	probably benign	Het
Taar7a	T	C	10: 23,868,415 (GRCm39)	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,361,231 (GRCm39)	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyw1	A	T	5: 130,298,101 (GRCm39)	H214L	probably damaging	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vangl2	T	C	1: 171,835,526 (GRCm39)	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Vps13a	T	G	19: 16,737,035 (GRCm39)	I101L	probably benign	Het
Washc4	T	A	10: 83,415,385 (GRCm39)	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,496,041 (GRCm39)	H608Y	probably benign	Het
Wdr48	T	A	9: 119,731,470 (GRCm39)	I56K	probably damaging	Het
Xpo4	T	C	14: 57,866,960 (GRCm39)	D194G	probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp821	T	A	8: 110,436,165 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,769,525 (GRCm39)	Y1237C	probably damaging	Het

Other mutations in Gart

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Gart	APN	16	91,435,677 (GRCm39)	missense	possibly damaging	0.58
IGL00837:Gart	APN	16	91,435,608 (GRCm39)	unclassified	probably benign
IGL01010:Gart	APN	16	91,439,980 (GRCm39)	nonsense	probably null
IGL01064:Gart	APN	16	91,419,895 (GRCm39)	missense	probably damaging	1.00
IGL01451:Gart	APN	16	91,422,400 (GRCm39)	missense	probably benign
IGL02084:Gart	APN	16	91,418,488 (GRCm39)	missense	probably benign
IGL02301:Gart	APN	16	91,418,725 (GRCm39)	splice site	probably benign
IGL02814:Gart	APN	16	91,420,345 (GRCm39)	missense	possibly damaging	0.58
sylvester	UTSW	16	91,427,490 (GRCm39)	splice site	probably benign
PIT4453001:Gart	UTSW	16	91,433,426 (GRCm39)	missense	probably damaging	1.00
R0137:Gart	UTSW	16	91,422,282 (GRCm39)	missense	probably benign
R0197:Gart	UTSW	16	91,420,291 (GRCm39)	missense	possibly damaging	0.95
R0321:Gart	UTSW	16	91,419,925 (GRCm39)	unclassified	probably benign
R0322:Gart	UTSW	16	91,419,925 (GRCm39)	unclassified	probably benign
R0398:Gart	UTSW	16	91,436,337 (GRCm39)	missense	probably damaging	1.00
R0410:Gart	UTSW	16	91,438,215 (GRCm39)	missense	probably damaging	1.00
R0496:Gart	UTSW	16	91,419,925 (GRCm39)	unclassified	probably benign
R0620:Gart	UTSW	16	91,427,490 (GRCm39)	splice site	probably benign
R0628:Gart	UTSW	16	91,430,790 (GRCm39)	missense	probably benign	0.01
R0883:Gart	UTSW	16	91,420,291 (GRCm39)	missense	possibly damaging	0.95
R1346:Gart	UTSW	16	91,425,070 (GRCm39)	splice site	probably null
R1490:Gart	UTSW	16	91,421,232 (GRCm39)	missense	probably damaging	1.00
R1686:Gart	UTSW	16	91,422,237 (GRCm39)	missense	probably damaging	1.00
R1751:Gart	UTSW	16	91,439,837 (GRCm39)	splice site	probably benign
R1917:Gart	UTSW	16	91,425,037 (GRCm39)	missense	probably damaging	1.00
R2144:Gart	UTSW	16	91,426,969 (GRCm39)	missense	probably damaging	1.00
R4305:Gart	UTSW	16	91,430,880 (GRCm39)	missense	possibly damaging	0.48
R4377:Gart	UTSW	16	91,430,982 (GRCm39)	missense	probably benign	0.31
R4599:Gart	UTSW	16	91,419,833 (GRCm39)	nonsense	probably null
R4619:Gart	UTSW	16	91,422,321 (GRCm39)	missense	probably damaging	1.00
R4620:Gart	UTSW	16	91,422,321 (GRCm39)	missense	probably damaging	1.00
R5112:Gart	UTSW	16	91,430,933 (GRCm39)	missense	probably benign	0.02
R5902:Gart	UTSW	16	91,425,415 (GRCm39)	missense	probably damaging	1.00
R5975:Gart	UTSW	16	91,421,224 (GRCm39)	missense	probably damaging	1.00
R6736:Gart	UTSW	16	91,432,995 (GRCm39)	missense	probably benign	0.21
R7041:Gart	UTSW	16	91,440,031 (GRCm39)	start gained	probably benign
R7150:Gart	UTSW	16	91,425,351 (GRCm39)	missense	possibly damaging	0.69
R7320:Gart	UTSW	16	91,418,569 (GRCm39)	missense	probably benign	0.00
R7709:Gart	UTSW	16	91,419,853 (GRCm39)	missense	possibly damaging	0.92
R7748:Gart	UTSW	16	91,427,540 (GRCm39)	missense	possibly damaging	0.66
R7911:Gart	UTSW	16	91,435,672 (GRCm39)	missense	probably benign	0.23
R8066:Gart	UTSW	16	91,436,335 (GRCm39)	missense	probably benign
R8209:Gart	UTSW	16	91,425,041 (GRCm39)	missense	possibly damaging	0.78
R8824:Gart	UTSW	16	91,427,591 (GRCm39)	missense	possibly damaging	0.64
R8840:Gart	UTSW	16	91,433,010 (GRCm39)	missense	probably benign	0.02
R9046:Gart	UTSW	16	91,418,561 (GRCm39)	missense	probably damaging	1.00
R9178:Gart	UTSW	16	91,430,904 (GRCm39)	missense	possibly damaging	0.87
R9514:Gart	UTSW	16	91,427,596 (GRCm39)	missense	probably benign	0.03
R9753:Gart	UTSW	16	91,430,949 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAGAATTCACGTTAATACCTCAA -3'
(R):5'- TCTCTGGATGAAAATGTCACATGTAT -3'

Sequencing Primer
(F):5'- CGCTCCCCATTTTGAAAC -3'
(R):5'- TTGAGTCTAGCCTGAGCAAC -3'

Posted On

2014-11-12