Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Gart'

597058

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Prgs, Gaps

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91418074-91443840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91427540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 486 (D486G)

Ref Sequence

ENSEMBL: ENSMUSP00000023684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000120450] [ENSMUST00000156713] [ENSMUST00000231380] [ENSMUST00000232289]

AlphaFold

Q64737

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023684
AA Change: D486G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: D486G

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: 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: 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

possibly damaging
Transcript: ENSMUST00000232289
AA Change: D486G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,963,521 (GRCm39)	L103F	probably benign	Het
5330417H12Rik	A	G	7: 107,223,765 (GRCm39)	L103P	unknown	Het
Actb	T	C	5: 142,890,450 (GRCm39)	I151V	probably benign	Het
Adcy6	T	A	15: 98,502,437 (GRCm39)	H59L	probably benign	Het
Adss2	G	C	1: 177,599,768 (GRCm39)	S272*	probably null	Het
Aga	A	T	8: 53,964,840 (GRCm39)	M1L	possibly damaging	Het
Ajm1	T	A	2: 25,468,971 (GRCm39)	E313D	possibly damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgap45	A	T	10: 79,852,766 (GRCm39)		probably benign	Het
Atp6v0a2	A	T	5: 124,793,560 (GRCm39)	H639L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,013,484 (GRCm39)		probably null	Het
Bod1l	A	C	5: 41,989,683 (GRCm39)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,627,996 (GRCm39)	D46G	probably damaging	Het
Camk1	T	C	6: 113,317,289 (GRCm39)	E60G	probably damaging	Het
Capza1	A	T	3: 104,732,721 (GRCm39)		probably null	Het
Ccdc18	T	A	5: 108,296,907 (GRCm39)		probably null	Het
Cdh20	G	A	1: 104,869,024 (GRCm39)	A172T	probably damaging	Het
Cdk4	C	T	10: 126,900,298 (GRCm39)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,888 (GRCm39)		probably null	Het
Chd3	T	C	11: 69,246,459 (GRCm39)	M1092V	probably benign	Het
Chd6	A	T	2: 160,808,539 (GRCm39)	H1558Q	probably benign	Het
Chi3l1	A	G	1: 134,116,966 (GRCm39)	H318R	probably benign	Het
Cps1	A	G	1: 67,178,965 (GRCm39)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 86,914,434 (GRCm39)	V111A	probably damaging	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,572,546 (GRCm39)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,217,024 (GRCm39)	K64N	probably damaging	Het
Eef1ece2	A	T	16: 20,451,834 (GRCm39)	D407V	probably damaging	Het
Fam135a	A	G	1: 24,068,050 (GRCm39)	S940P	probably benign	Het
Fam234b	T	A	6: 135,186,349 (GRCm39)	V119E	probably damaging	Het
Fbxo46	G	C	7: 18,870,458 (GRCm39)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,572,505 (GRCm39)		probably benign	Het
Fmn2	T	A	1: 174,494,215 (GRCm39)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm39)	T64K	probably damaging	Het
Fscb	A	T	12: 64,521,181 (GRCm39)	M95K	probably benign	Het
Fyb1	T	G	15: 6,668,307 (GRCm39)	V500G	probably damaging	Het
G2e3	A	G	12: 51,418,450 (GRCm39)	N615S	probably benign	Het
Gas2l2	T	A	11: 83,313,224 (GRCm39)	D696V	probably benign	Het
Glmn	C	T	5: 107,710,110 (GRCm39)		probably null	Het
Gm47985	A	T	1: 151,058,725 (GRCm39)	D122V	probably damaging	Het
Gm7168	A	G	17: 14,168,914 (GRCm39)	K94E	probably benign	Het
Gnai2	T	C	9: 107,492,934 (GRCm39)	H323R		Het
Helz2	C	T	2: 180,876,324 (GRCm39)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,858,413 (GRCm39)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,928,270 (GRCm39)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,154,911 (GRCm39)	R343S	probably damaging	Het
Itga8	T	A	2: 12,235,050 (GRCm39)	I403F	possibly damaging	Het
Katnip	A	T	7: 125,428,973 (GRCm39)	M558L	probably benign	Het
Krt33a	C	T	11: 99,902,428 (GRCm39)	R404H	probably benign	Het
Krt34	T	A	11: 99,929,764 (GRCm39)	E244V	probably damaging	Het
Krt42	T	C	11: 100,157,792 (GRCm39)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,585 (GRCm39)	L553P		Het
Lcn9	T	A	2: 25,714,926 (GRCm39)	*179K	probably null	Het
Ldaf1	A	T	7: 119,714,702 (GRCm39)	I64F	possibly damaging	Het
Lrrc2	T	G	9: 110,809,999 (GRCm39)	M345R	possibly damaging	Het
Marchf11	T	C	15: 26,387,916 (GRCm39)	V257A	probably damaging	Het
Masp2	T	C	4: 148,690,163 (GRCm39)	I224T	probably benign	Het
Mpz	A	T	1: 170,987,509 (GRCm39)		probably null	Het
Mtr	C	T	13: 12,242,725 (GRCm39)	A442T	probably benign	Het
Muc5b	A	G	7: 141,401,542 (GRCm39)	K596R	unknown	Het
Myo15a	T	G	11: 60,395,727 (GRCm39)	F1397C		Het
Ncor2	T	C	5: 125,187,031 (GRCm39)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,045,800 (GRCm39)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,545,627 (GRCm39)	A390T	probably damaging	Het
Or10a3n	T	C	7: 108,493,285 (GRCm39)	T115A	probably benign	Het
Or1e22	T	G	11: 73,376,994 (GRCm39)	I219L	probably benign	Het
Pds5a	T	A	5: 65,777,009 (GRCm39)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,872 (GRCm39)	R966L	possibly damaging	Het
Plk3	T	C	4: 116,988,925 (GRCm39)	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,314,334 (GRCm39)		probably null	Het
Plxna1	T	A	6: 89,314,335 (GRCm39)		probably null	Het
Ppp4r4	G	A	12: 103,571,320 (GRCm39)		probably null	Het
Pramel6	T	A	2: 87,339,043 (GRCm39)	V81E	probably damaging	Het
Prdm2	T	C	4: 142,862,459 (GRCm39)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,970,491 (GRCm39)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,239,497 (GRCm39)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,190 (GRCm39)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,655,031 (GRCm39)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,017,741 (GRCm39)	I744V	probably null	Het
Rad54l2	A	G	9: 106,596,233 (GRCm39)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,415 (GRCm39)		probably null	Het
Rtcb	A	T	10: 85,777,832 (GRCm39)	D447E	probably benign	Het
Rtn1	C	T	12: 72,263,700 (GRCm39)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,436,140 (GRCm39)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,096,722 (GRCm39)	M1T	probably null	Het
Slc1a4	T	C	11: 20,282,252 (GRCm39)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,031,940 (GRCm39)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,386,519 (GRCm39)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,289,426 (GRCm39)	I226V	probably benign	Het
Spata22	T	G	11: 73,227,080 (GRCm39)	I98S	probably null	Het
Spef2	C	T	15: 9,653,031 (GRCm39)	V917M	probably damaging	Het
Sspo	C	A	6: 48,426,399 (GRCm39)	C139*	probably null	Het
Tenm4	A	G	7: 96,543,909 (GRCm39)	D2012G	probably damaging	Het
Tgm5	G	A	2: 120,883,289 (GRCm39)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,006,753 (GRCm39)	W82*	probably null	Het
Topors	T	A	4: 40,262,654 (GRCm39)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,888,569 (GRCm39)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,985,250 (GRCm39)	D19E	unknown	Het
Usp17lc	A	G	7: 103,067,688 (GRCm39)	T328A	probably damaging	Het
Utrn	A	G	10: 12,490,252 (GRCm39)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,955,549 (GRCm39)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,570,343 (GRCm39)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,870,371 (GRCm39)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,236,720 (GRCm39)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp773	T	C	7: 7,135,907 (GRCm39)	R230G	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
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
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
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'- ACGCTACTGTTTCAAATGTGCAC -3'
(R):5'- AGTGTCCTGTTTCCATGGAGC -3'

Sequencing Primer
(F):5'- ATGTGCACCTGAGCTACATG -3'
(R):5'- TTCCATGGAGCTCTCTCAGGAAAG -3'

Posted On

2019-11-26