Mutagenetix > Incidental Mutation

Incidental Mutation 'R1686:Gart'

189381

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

039719-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91621186-91646952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91625349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 760 (A760D)

Ref Sequence

ENSEMBL: ENSMUSP00000156002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000156713] [ENSMUST00000232289] [ENSMUST00000232640]

AlphaFold

Q64737

Predicted Effect

probably damaging
Transcript: ENSMUST00000023684
AA Change: A760D

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

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: A760D

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

noncoding transcript
Transcript: ENSMUST00000138207

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 damaging
Transcript: ENSMUST00000232289
AA Change: A760D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232620

Predicted Effect

probably benign
Transcript: ENSMUST00000232640

Predicted Effect

probably benign
Transcript: ENSMUST00000232643

Meta Mutation Damage Score

0.8868

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (85/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	A	10: 100,612,860 (GRCm38)	V400I	probably damaging	Het
Abcb1b	A	G	5: 8,798,782 (GRCm38)	N14S	probably damaging	Het
Adamts14	A	G	10: 61,198,660 (GRCm38)	Y1150H	probably benign	Het
Adgrg3	A	G	8: 95,033,369 (GRCm38)	N72S	probably benign	Het
Akain1	T	A	17: 69,439,532 (GRCm38)	F3I	possibly damaging	Het
Akr1c21	T	C	13: 4,577,453 (GRCm38)	L182P	probably damaging	Het
Arhgap21	A	T	2: 20,881,848 (GRCm38)	Y12N	probably damaging	Het
Aup1	A	T	6: 83,055,245 (GRCm38)	H131L	probably damaging	Het
Bag6	A	G	17: 35,144,952 (GRCm38)	T812A	possibly damaging	Het
Bmp2k	A	G	5: 97,063,533 (GRCm38)	Y520C	unknown	Het
Calm4	T	G	13: 3,838,302 (GRCm38)	V136G	probably damaging	Het
Catsper2	A	G	2: 121,400,042 (GRCm38)		probably null	Het
Cc2d2a	A	G	5: 43,739,371 (GRCm38)	T1537A	possibly damaging	Het
Cntn2	A	T	1: 132,526,311 (GRCm38)	V319D	possibly damaging	Het
Cux1	G	A	5: 136,275,381 (GRCm38)	R1314*	probably null	Het
Cxcl12	A	G	6: 117,173,547 (GRCm38)	I79V	probably damaging	Het
Cyp2j6	T	C	4: 96,523,777 (GRCm38)	D418G	probably benign	Het
Ddx28	G	C	8: 106,010,558 (GRCm38)	D289E	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fam135a	A	C	1: 24,029,806 (GRCm38)	S448A	probably benign	Het
Fbxo33	G	T	12: 59,204,840 (GRCm38)	N30K	possibly damaging	Het
Fgf12	A	C	16: 28,398,341 (GRCm38)	Y21D	probably damaging	Het
Galntl5	C	T	5: 25,210,434 (GRCm38)	S288L	probably benign	Het
Gba2	A	T	4: 43,573,869 (GRCm38)		probably benign	Het
Gm10518	C	A	1: 179,803,792 (GRCm38)	S139*	probably null	Het
Gm4781	A	T	10: 100,396,975 (GRCm38)		noncoding transcript	Het
Gm9790	A	G	3: 85,915,849 (GRCm38)		noncoding transcript	Het
Gmps	G	A	3: 63,985,654 (GRCm38)	G127R	probably damaging	Het
Golim4	A	T	3: 75,895,136 (GRCm38)	V283E	probably benign	Het
Gprc5a	A	T	6: 135,078,920 (GRCm38)	I122F	possibly damaging	Het
Gzmc	T	C	14: 56,233,884 (GRCm38)	K67E	probably benign	Het
Hapln3	C	A	7: 79,121,890 (GRCm38)	V84L	probably benign	Het
Hif3a	T	A	7: 17,044,864 (GRCm38)	N377Y	possibly damaging	Het
Ifi211	G	A	1: 173,899,403 (GRCm38)	H392Y	probably damaging	Het
Iqgap3	T	A	3: 88,108,356 (GRCm38)		probably benign	Het
Itga10	T	A	3: 96,651,825 (GRCm38)	F410Y	probably damaging	Het
Jup	T	C	11: 100,372,434 (GRCm38)	Y705C	probably damaging	Het
Khsrp	C	T	17: 57,025,597 (GRCm38)	A228T	probably benign	Het
Lmntd2	C	T	7: 141,211,085 (GRCm38)	G445D	probably damaging	Het
Lyst	T	C	13: 13,634,705 (GRCm38)	V320A	possibly damaging	Het
Magel2	T	A	7: 62,378,240 (GRCm38)	H297Q	possibly damaging	Het
Mbd6	T	C	10: 127,287,417 (GRCm38)	E33G	probably damaging	Het
Mob3b	A	G	4: 34,985,910 (GRCm38)		probably benign	Het
Mroh2a	C	T	1: 88,230,680 (GRCm38)	R150*	probably null	Het
Mroh2a	T	C	1: 88,234,612 (GRCm38)		probably null	Het
Mymk	A	T	2: 27,062,334 (GRCm38)	W174R	probably damaging	Het
Nckap1	C	T	2: 80,517,942 (GRCm38)	S889N	probably benign	Het
Nipal3	T	C	4: 135,447,288 (GRCm38)	Y384C	possibly damaging	Het
Nt5c3b	A	G	11: 100,440,094 (GRCm38)		probably benign	Het
Obox6	T	A	7: 15,833,825 (GRCm38)	L232F	probably damaging	Het
Obscn	A	C	11: 59,106,287 (GRCm38)		probably benign	Het
Or7g12	T	C	9: 18,988,543 (GRCm38)	L185P	probably damaging	Het
Phkb	A	G	8: 86,021,649 (GRCm38)	I706V	probably benign	Het
Plcb2	A	G	2: 118,715,687 (GRCm38)		probably benign	Het
Plek2	T	C	12: 78,894,410 (GRCm38)	D216G	probably damaging	Het
Plxnb2	T	C	15: 89,162,462 (GRCm38)	Y855C	probably damaging	Het
Prkcz	T	C	4: 155,271,256 (GRCm38)	T227A	probably damaging	Het
Psma7	A	T	2: 180,037,422 (GRCm38)	D184E	probably benign	Het
Rai14	T	A	15: 10,592,196 (GRCm38)	L204F	probably damaging	Het
Ralgapa2	A	G	2: 146,358,000 (GRCm38)	V1208A	probably benign	Het
Rapgef6	A	G	11: 54,691,632 (GRCm38)	R67G	possibly damaging	Het
Ryr2	C	T	13: 11,603,779 (GRCm38)		probably benign	Het
Satb1	T	C	17: 51,739,999 (GRCm38)	S763G	probably benign	Het
Sdk1	A	T	5: 142,034,537 (GRCm38)	H690L	probably benign	Het
Sfrp5	A	C	19: 42,201,704 (GRCm38)	V103G	possibly damaging	Het
Six6	A	G	12: 72,941,677 (GRCm38)	E208G	probably benign	Het
Sspo	A	T	6: 48,460,400 (GRCm38)	H1364L	probably benign	Het
Stard9	A	T	2: 120,699,492 (GRCm38)	T2077S	probably benign	Het
Tacr3	T	C	3: 134,829,493 (GRCm38)	L74P	probably damaging	Het
Tep1	T	C	14: 50,836,788 (GRCm38)	E1880G	probably benign	Het
Tgfb3	A	T	12: 86,069,743 (GRCm38)		probably benign	Het
Thap7	G	A	16: 17,528,712 (GRCm38)	P136S	probably damaging	Het
Thoc2l	T	A	5: 104,519,923 (GRCm38)	Y770*	probably null	Het
Tmc2	T	C	2: 130,256,116 (GRCm38)	V717A	possibly damaging	Het
Usp43	T	A	11: 67,887,767 (GRCm38)	S446C	probably damaging	Het
Vwa3a	C	T	7: 120,780,148 (GRCm38)	S492L	probably damaging	Het
Wdhd1	T	A	14: 47,256,215 (GRCm38)	N16I	probably damaging	Het
Wdr95	A	T	5: 149,593,101 (GRCm38)	D327V	probably damaging	Het
Zfp128	T	G	7: 12,890,636 (GRCm38)	Y310*	probably null	Het

Other mutations in Gart

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Gart	APN	16	91,638,789 (GRCm38)	missense	possibly damaging	0.58
IGL00837:Gart	APN	16	91,638,720 (GRCm38)	unclassified	probably benign
IGL01010:Gart	APN	16	91,643,092 (GRCm38)	nonsense	probably null
IGL01064:Gart	APN	16	91,623,007 (GRCm38)	missense	probably damaging	1.00
IGL01451:Gart	APN	16	91,625,512 (GRCm38)	missense	probably benign
IGL02084:Gart	APN	16	91,621,600 (GRCm38)	missense	probably benign
IGL02301:Gart	APN	16	91,621,837 (GRCm38)	splice site	probably benign
IGL02814:Gart	APN	16	91,623,457 (GRCm38)	missense	possibly damaging	0.58
sylvester	UTSW	16	91,630,602 (GRCm38)	splice site	probably benign
PIT4453001:Gart	UTSW	16	91,636,538 (GRCm38)	missense	probably damaging	1.00
R0137:Gart	UTSW	16	91,625,394 (GRCm38)	missense	probably benign
R0197:Gart	UTSW	16	91,623,403 (GRCm38)	missense	possibly damaging	0.95
R0321:Gart	UTSW	16	91,623,037 (GRCm38)	unclassified	probably benign
R0322:Gart	UTSW	16	91,623,037 (GRCm38)	unclassified	probably benign
R0398:Gart	UTSW	16	91,639,449 (GRCm38)	missense	probably damaging	1.00
R0410:Gart	UTSW	16	91,641,327 (GRCm38)	missense	probably damaging	1.00
R0496:Gart	UTSW	16	91,623,037 (GRCm38)	unclassified	probably benign
R0620:Gart	UTSW	16	91,630,602 (GRCm38)	splice site	probably benign
R0628:Gart	UTSW	16	91,633,902 (GRCm38)	missense	probably benign	0.01
R0883:Gart	UTSW	16	91,623,403 (GRCm38)	missense	possibly damaging	0.95
R1346:Gart	UTSW	16	91,628,182 (GRCm38)	splice site	probably null
R1490:Gart	UTSW	16	91,624,344 (GRCm38)	missense	probably damaging	1.00
R1751:Gart	UTSW	16	91,642,949 (GRCm38)	splice site	probably benign
R1917:Gart	UTSW	16	91,628,149 (GRCm38)	missense	probably damaging	1.00
R2144:Gart	UTSW	16	91,630,081 (GRCm38)	missense	probably damaging	1.00
R2421:Gart	UTSW	16	91,643,040 (GRCm38)	splice site	probably null
R4305:Gart	UTSW	16	91,633,992 (GRCm38)	missense	possibly damaging	0.48
R4377:Gart	UTSW	16	91,634,094 (GRCm38)	missense	probably benign	0.31
R4599:Gart	UTSW	16	91,622,945 (GRCm38)	nonsense	probably null
R4619:Gart	UTSW	16	91,625,433 (GRCm38)	missense	probably damaging	1.00
R4620:Gart	UTSW	16	91,625,433 (GRCm38)	missense	probably damaging	1.00
R5112:Gart	UTSW	16	91,634,045 (GRCm38)	missense	probably benign	0.02
R5902:Gart	UTSW	16	91,628,527 (GRCm38)	missense	probably damaging	1.00
R5975:Gart	UTSW	16	91,624,336 (GRCm38)	missense	probably damaging	1.00
R6736:Gart	UTSW	16	91,636,107 (GRCm38)	missense	probably benign	0.21
R7041:Gart	UTSW	16	91,643,143 (GRCm38)	start gained	probably benign
R7150:Gart	UTSW	16	91,628,463 (GRCm38)	missense	possibly damaging	0.69
R7320:Gart	UTSW	16	91,621,681 (GRCm38)	missense	probably benign	0.00
R7709:Gart	UTSW	16	91,622,965 (GRCm38)	missense	possibly damaging	0.92
R7748:Gart	UTSW	16	91,630,652 (GRCm38)	missense	possibly damaging	0.66
R7911:Gart	UTSW	16	91,638,784 (GRCm38)	missense	probably benign	0.23
R8066:Gart	UTSW	16	91,639,447 (GRCm38)	missense	probably benign
R8209:Gart	UTSW	16	91,628,153 (GRCm38)	missense	possibly damaging	0.78
R8824:Gart	UTSW	16	91,630,703 (GRCm38)	missense	possibly damaging	0.64
R8840:Gart	UTSW	16	91,636,122 (GRCm38)	missense	probably benign	0.02
R9046:Gart	UTSW	16	91,621,673 (GRCm38)	missense	probably damaging	1.00
R9178:Gart	UTSW	16	91,634,016 (GRCm38)	missense	possibly damaging	0.87
R9514:Gart	UTSW	16	91,630,708 (GRCm38)	missense	probably benign	0.03
R9753:Gart	UTSW	16	91,634,061 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGAGCTAAACCTCCAGGCAGAC -3'
(R):5'- ACTCTTGTTCTAAGATGCCAGCACC -3'

Sequencing Primer
(F):5'- CAGACCCATGAGGCATTTTG -3'
(R):5'- CTAAGATGCCAGCACCTGGAG -3'

Posted On

2014-05-14