Mutagenetix > Incidental Mutation

Incidental Mutation 'R1917:Gart'

212646

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

039935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91621186-91646952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91628149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 662 (Y662C)

Ref Sequence

ENSEMBL: ENSMUSP00000156002 (fasta)

Gene Model

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

AlphaFold

Q64737

Predicted Effect

probably damaging
Transcript: ENSMUST00000023684
AA Change: Y662C

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

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: Y662C

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: Y662C

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

Meta Mutation Damage Score

0.9681

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.6%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	G	11: 29,824,039 (GRCm38)	S473P	probably benign	Het
Abca8a	A	G	11: 110,091,515 (GRCm38)		probably benign	Het
Adgre5	A	G	8: 83,729,109 (GRCm38)	V190A	probably damaging	Het
Akap6	A	G	12: 53,104,612 (GRCm38)	N1153S	probably benign	Het
Aldh1a7	G	A	19: 20,727,455 (GRCm38)	H20Y	probably benign	Het
B430306N03Rik	A	G	17: 48,324,148 (GRCm38)	E278G	probably benign	Het
Cacna1b	C	A	2: 24,616,879 (GRCm38)	R72L	probably null	Het
Cc2d2a	C	G	5: 43,706,222 (GRCm38)	S675R	probably damaging	Het
Ccdc88b	T	A	19: 6,849,226 (GRCm38)	E1040D	probably damaging	Het
Cmtm7	A	G	9: 114,763,364 (GRCm38)	V55A	probably damaging	Het
Coq4	A	C	2: 29,789,926 (GRCm38)	T77P	probably damaging	Het
Cyp2j11	C	A	4: 96,339,974 (GRCm38)	W136L	probably damaging	Het
Dctn2	T	A	10: 127,275,049 (GRCm38)	Y86*	probably null	Het
Ddx56	A	G	11: 6,263,937 (GRCm38)		probably null	Het
Dopey2	T	C	16: 93,716,262 (GRCm38)	S30P	probably damaging	Het
Ep400	T	C	5: 110,703,575 (GRCm38)	K1347R	unknown	Het
Fat3	T	A	9: 15,997,057 (GRCm38)	T2550S	possibly damaging	Het
Fcrla	G	T	1: 170,927,526 (GRCm38)	C5*	probably null	Het
Fermt1	T	A	2: 132,922,842 (GRCm38)	D365V	probably damaging	Het
Fhod3	A	G	18: 25,085,601 (GRCm38)	D807G	probably benign	Het
Fhod3	A	G	18: 24,989,965 (GRCm38)		probably benign	Het
Fnip1	C	T	11: 54,480,684 (GRCm38)	T177I	probably damaging	Het
Gda	A	T	19: 21,397,640 (GRCm38)		probably benign	Het
Gk	A	G	X: 85,760,580 (GRCm38)	I85T	probably damaging	Het
Gm12169	A	G	11: 46,528,531 (GRCm38)	D58G	possibly damaging	Het
Gm14548	C	T	7: 3,897,638 (GRCm38)	V38M	probably damaging	Het
Gm3476	A	G	14: 6,118,358 (GRCm38)	L255P	possibly damaging	Het
Gm9966	T	C	7: 95,958,477 (GRCm38)	C2R	unknown	Het
Gnpda1	T	C	18: 38,333,190 (GRCm38)		probably null	Het
Gtf2h4	G	A	17: 35,670,198 (GRCm38)	L246F	possibly damaging	Het
Hao1	A	T	2: 134,523,060 (GRCm38)	S216T	probably benign	Het
Hnrnpr	C	A	4: 136,332,488 (GRCm38)	S301*	probably null	Het
Hsd3b2	A	G	3: 98,712,026 (GRCm38)	I201T	probably benign	Het
Jade2	T	C	11: 51,818,538 (GRCm38)	E548G	possibly damaging	Het
Katnbl1	T	C	2: 112,409,179 (GRCm38)	I241T	probably benign	Het
Keap1	G	T	9: 21,233,806 (GRCm38)	Q299K	probably benign	Het
Kif1a	T	C	1: 93,019,031 (GRCm38)	I1650V	possibly damaging	Het
Lrba	G	A	3: 86,664,501 (GRCm38)	G275R	probably damaging	Het
Map3k9	C	A	12: 81,780,790 (GRCm38)	E29*	probably null	Het
Mat1a	G	A	14: 41,121,437 (GRCm38)	V307I	probably damaging	Het
Mcm2	A	T	6: 88,891,803 (GRCm38)	M324K	possibly damaging	Het
Metap1d	T	C	2: 71,511,527 (GRCm38)	V155A	probably damaging	Het
Mtbp	A	G	15: 55,564,677 (GRCm38)		probably benign	Het
Myh14	T	C	7: 44,657,925 (GRCm38)	T231A	probably benign	Het
Mylk4	A	T	13: 32,724,853 (GRCm38)	D90E	probably benign	Het
Myo15b	T	A	11: 115,882,254 (GRCm38)	I1837K	possibly damaging	Het
Myo3a	T	A	2: 22,291,922 (GRCm38)	H242Q	probably damaging	Het
Nxn	A	G	11: 76,261,672 (GRCm38)		probably benign	Het
Olfr791	T	A	10: 129,527,049 (GRCm38)	V274D	probably damaging	Het
Pak3	C	A	X: 143,791,302 (GRCm38)	A553E	possibly damaging	Het
Pdia2	T	A	17: 26,198,105 (GRCm38)	T122S	possibly damaging	Het
Plod2	A	G	9: 92,581,257 (GRCm38)	T132A	probably benign	Het
Ptprz1	T	A	6: 23,035,040 (GRCm38)		probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm38)	N416T	probably damaging	Het
Recql4	A	T	15: 76,703,837 (GRCm38)	Y1142*	probably null	Het
Rnf216	A	G	5: 142,992,806 (GRCm38)	V859A	probably benign	Het
Scnm1	G	T	3: 95,130,273 (GRCm38)	P161T	possibly damaging	Het
Serpinb6b	A	G	13: 32,978,240 (GRCm38)	I222V	probably benign	Het
Serpinf1	A	G	11: 75,411,007 (GRCm38)	I274T	possibly damaging	Het
Slc28a1	T	C	7: 81,169,586 (GRCm38)	F641L	probably benign	Het
Slc8a2	A	G	7: 16,152,920 (GRCm38)	I657V	probably benign	Het
Smchd1	A	G	17: 71,407,237 (GRCm38)	I877T	possibly damaging	Het
Spata31	T	C	13: 64,920,865 (GRCm38)	Y276H	possibly damaging	Het
Spire2	A	G	8: 123,363,071 (GRCm38)	D447G	probably benign	Het
Stk3	G	A	15: 35,073,217 (GRCm38)	T119I	probably damaging	Het
Stxbp5	C	A	10: 9,812,298 (GRCm38)	V420F	possibly damaging	Het
Sult2a5	T	C	7: 13,670,684 (GRCm38)	F282S	probably damaging	Het
Syk	A	T	13: 52,622,708 (GRCm38)	D248V	probably damaging	Het
Thoc6	C	T	17: 23,669,390 (GRCm38)		probably benign	Het
Tll2	T	A	19: 41,128,497 (GRCm38)	D293V	possibly damaging	Het
Umodl1	G	A	17: 30,984,043 (GRCm38)	V457M	probably damaging	Het
Usp19	T	A	9: 108,499,325 (GRCm38)	C689*	probably null	Het
Usp24	T	G	4: 106,410,286 (GRCm38)	V1955G	probably damaging	Het
Vmn1r226	T	C	17: 20,687,580 (GRCm38)	S25P	probably damaging	Het
Vmn2r69	C	T	7: 85,411,683 (GRCm38)	C231Y	probably damaging	Het
Wdr73	C	T	7: 80,893,333 (GRCm38)	D176N	probably benign	Het
Wnt7b	T	A	15: 85,559,080 (GRCm38)	I41F	probably damaging	Het
Zfhx3	T	C	8: 108,956,248 (GRCm38)	S3440P	unknown	Het
Zfp52	T	G	17: 21,560,164 (GRCm38)	N91K	probably benign	Het
Zfp930	C	A	8: 69,228,705 (GRCm38)	Q350K	probably benign	Het
Zfp949	T	C	9: 88,570,062 (GRCm38)	S562P	probably damaging	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
R1686:Gart	UTSW	16	91,625,349 (GRCm38)	missense	probably damaging	1.00
R1751:Gart	UTSW	16	91,642,949 (GRCm38)	splice site	probably benign
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'- TCCAAATCCACTGCAGACTG -3'
(R):5'- GAAACCCAGGTCACTAGGACTAG -3'

Sequencing Primer
(F):5'- ATCCACTGCAGACTGCTGAG -3'
(R):5'- CCAGGTCACTAGGACTAGGATGG -3'

Posted On

2014-07-14