Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Gart'

271566

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Prgs, Gaps

MMRRC Submission

038692-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0496 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

91418074-91443840 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 91419925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000049244] [ENSMUST00000133731] [ENSMUST00000143058] [ENSMUST00000156713] [ENSMUST00000169982] [ENSMUST00000232640] [ENSMUST00000232289]

AlphaFold

Q64737

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: ENSMUST00000049244

SMART Domains

Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763

Domain	Start	End	E-Value	Type
DnaJ	47	105	1.04e-11	SMART
low complexity region	112	123	N/A	INTRINSIC
Pfam:DUF1992	203	342	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133731

SMART Domains

Protein: ENSMUSP00000118526
Gene: ENSMUSG00000039763

Domain	Start	End	E-Value	Type
DnaJ	47	84	6.65e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138207

Predicted Effect

probably benign
Transcript: ENSMUST00000143058

SMART Domains

Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763

Domain	Start	End	E-Value	Type
DnaJ	71	129	1.04e-11	SMART
low complexity region	136	147	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: ENSMUST00000169982

SMART Domains

Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763

Domain	Start	End	E-Value	Type
DnaJ	71	129	1.04e-11	SMART
low complexity region	136	147	N/A	INTRINSIC
Pfam:DUF1992	227	295	1.2e-24	PFAM
coiled coil region	312	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232620

Predicted Effect

probably benign
Transcript: ENSMUST00000232643

Predicted Effect

probably benign
Transcript: ENSMUST00000232289

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,005 (GRCm39)	K1065E	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,860 (GRCm39)	N44S	probably benign	Het
Abca13	A	G	11: 9,241,701 (GRCm39)	D1188G	probably benign	Het
Abcb11	C	T	2: 69,108,228 (GRCm39)		probably benign	Het
Abcc8	A	T	7: 45,758,244 (GRCm39)	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,259,435 (GRCm39)	C827Y	probably damaging	Het
Agap3	T	A	5: 24,706,241 (GRCm39)	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,363,867 (GRCm39)	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,609,446 (GRCm39)		probably benign	Het
Arhgef40	A	T	14: 52,242,364 (GRCm39)		probably benign	Het
Atad5	A	G	11: 79,991,182 (GRCm39)	I692V	probably benign	Het
Atp5f1b	G	T	10: 127,922,043 (GRCm39)	R310L	possibly damaging	Het
AY358078	A	T	14: 52,040,989 (GRCm39)	M103L	unknown	Het
Bcl9l	T	G	9: 44,420,815 (GRCm39)	V1370G	probably benign	Het
Bglap3	T	A	3: 88,276,444 (GRCm39)	Q38L	probably damaging	Het
Bltp1	A	G	3: 37,041,784 (GRCm39)	T2721A	probably damaging	Het
Ccn2	G	T	10: 24,473,413 (GRCm39)	M317I	possibly damaging	Het
Cd38	T	C	5: 44,026,233 (GRCm39)	F6L	probably damaging	Het
Cela3a	A	C	4: 137,131,779 (GRCm39)	V138G	probably damaging	Het
Cemip2	A	T	19: 21,774,709 (GRCm39)	N117I	possibly damaging	Het
Clvs1	T	A	4: 9,424,241 (GRCm39)	I229N	probably damaging	Het
Cpne1	G	A	2: 155,921,339 (GRCm39)	H16Y	probably damaging	Het
Ctc1	T	C	11: 68,926,333 (GRCm39)	L1069P	probably damaging	Het
Dgkd	G	A	1: 87,864,622 (GRCm39)	S996N	probably null	Het
Dnah9	A	T	11: 65,965,961 (GRCm39)	M1685K	probably null	Het
Dnajb12	C	T	10: 59,715,623 (GRCm39)	R42*	probably null	Het
Dock5	T	C	14: 68,054,967 (GRCm39)	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180 (GRCm39)	M868T	probably benign	Het
Enpp1	G	T	10: 24,547,950 (GRCm39)	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292 (GRCm39)	D152E	probably damaging	Het
Fancd2	T	C	6: 113,532,091 (GRCm39)		probably benign	Het
Gm10964	A	T	3: 103,646,745 (GRCm39)		probably null	Het
Gpbar1	T	C	1: 74,318,140 (GRCm39)	F128L	probably benign	Het
Gsx2	T	A	5: 75,237,726 (GRCm39)	M226K	probably benign	Het
Gucd1	T	C	10: 75,347,100 (GRCm39)	D50G	possibly damaging	Het
Has1	A	G	17: 18,064,008 (GRCm39)	Y544H	probably benign	Het
Hc	A	T	2: 34,903,583 (GRCm39)	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,882,863 (GRCm39)	H659Q	probably benign	Het
Itga2	T	C	13: 114,990,435 (GRCm39)	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,235,901 (GRCm39)	K181E	possibly damaging	Het
Jak3	A	T	8: 72,135,041 (GRCm39)	H558L	probably damaging	Het
Kcnh8	A	G	17: 53,032,886 (GRCm39)	T58A	probably benign	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt33a	C	T	11: 99,903,155 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,866,357 (GRCm39)		probably benign	Het
Map4	G	A	9: 109,868,918 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,045,982 (GRCm39)	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 25,133,424 (GRCm39)		probably benign	Het
Mib1	A	G	18: 10,804,773 (GRCm39)	S918G	probably benign	Het
Mipol1	T	A	12: 57,503,963 (GRCm39)	V377D	probably damaging	Het
Mlh1	T	C	9: 111,070,624 (GRCm39)	T364A	probably benign	Het
Mta1	C	T	12: 113,094,941 (GRCm39)	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,040,006 (GRCm39)	R806G	probably benign	Het
Myh13	C	A	11: 67,239,641 (GRCm39)	N730K	probably damaging	Het
Myom1	A	G	17: 71,391,301 (GRCm39)	K937E	probably damaging	Het
Naxd	T	C	8: 11,560,224 (GRCm39)		probably benign	Het
Negr1	G	T	3: 156,721,904 (GRCm39)	K159N	probably damaging	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Or1e1f	T	C	11: 73,855,706 (GRCm39)	S91P	probably benign	Het
Or2j3	A	G	17: 38,615,549 (GRCm39)	S268P	probably damaging	Het
Or51v14	C	T	7: 103,261,204 (GRCm39)	A119T	probably benign	Het
Or52r1c	T	C	7: 102,734,797 (GRCm39)	I19T	probably damaging	Het
Or5d41	A	T	2: 88,054,499 (GRCm39)	Y292*	probably null	Het
Pcsk6	G	A	7: 65,576,997 (GRCm39)	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,127,531 (GRCm39)	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,618,750 (GRCm39)	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,879,430 (GRCm39)	H474N	probably damaging	Het
Pltp	A	G	2: 164,694,381 (GRCm39)		probably benign	Het
Qtrt1	C	T	9: 21,330,844 (GRCm39)	T324M	probably benign	Het
Racgap1	A	T	15: 99,537,713 (GRCm39)		probably benign	Het
Rhbg	A	G	3: 88,161,805 (GRCm39)	V50A	probably benign	Het
Rnf135	G	A	11: 80,074,776 (GRCm39)	V12M	probably damaging	Het
Rnf7l	G	T	10: 63,257,381 (GRCm39)	C46*	probably null	Het
Rufy2	T	C	10: 62,828,949 (GRCm39)	V117A	probably damaging	Het
Safb	A	G	17: 56,912,630 (GRCm39)	M866V	probably benign	Het
Slc35c2	G	T	2: 165,122,735 (GRCm39)	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,248,512 (GRCm39)	L377P	probably damaging	Het
Slit1	G	A	19: 41,596,750 (GRCm39)		probably benign	Het
Spaca9	G	A	2: 28,583,022 (GRCm39)	H133Y	probably damaging	Het
Spout1	A	G	2: 30,064,983 (GRCm39)	F339S	probably benign	Het
St6gal2	A	G	17: 55,789,015 (GRCm39)	I16M	probably damaging	Het
Stat2	T	C	10: 128,112,378 (GRCm39)	M6T	probably benign	Het
Swt1	T	A	1: 151,287,021 (GRCm39)	H157L	probably benign	Het
Syne2	A	G	12: 76,085,714 (GRCm39)	N147D	possibly damaging	Het
Tmem222	A	T	4: 133,004,902 (GRCm39)	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,684,567 (GRCm39)	H95L	probably damaging	Het
Tns3	A	C	11: 8,497,262 (GRCm39)		probably benign	Het
Trpm3	A	G	19: 22,676,142 (GRCm39)	I103V	probably benign	Het
Ube2n	T	C	10: 95,377,206 (GRCm39)	F57S	probably benign	Het
Vil1	T	C	1: 74,460,499 (GRCm39)	S219P	possibly damaging	Het
Wdfy4	A	G	14: 32,862,695 (GRCm39)		probably benign	Het
Wdr7	T	C	18: 63,924,914 (GRCm39)	S966P	probably benign	Het
Wnt8a	A	G	18: 34,677,900 (GRCm39)	N103D	probably damaging	Het
Zfp523	G	A	17: 28,419,419 (GRCm39)	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,836,609 (GRCm39)	D418E	probably benign	Het
Zscan20	A	G	4: 128,485,682 (GRCm39)	V192A	probably benign	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
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
R2421:Gart	UTSW	16	91,439,928 (GRCm39)	splice site	probably null
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

Posted On

2015-03-23