Mutagenetix > Incidental Mutations

Incidental Mutation 'R4620:Gart'

345279

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

042008-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4620 (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 91625433 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 732 (N732S)

Ref Sequence

ENSEMBL: ENSMUSP00000156002 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023684
AA Change: N732S

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

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: N732S

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: N732S

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

0.8973

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,606	Y433*	probably null	Het
Apba2	C	T	7: 64,714,467	R331C	probably damaging	Het
Apod	T	C	16: 31,297,393	D173G	probably benign	Het
B3gnt5	A	T	16: 19,769,882	M284L	probably benign	Het
Birc6	A	C	17: 74,640,150	T2955P	probably benign	Het
Blvra	T	C	2: 127,096,965	I287T	probably damaging	Het
Capn5	T	C	7: 98,129,371	Y347C	probably damaging	Het
Cdcp2	A	G	4: 107,106,730	E259G	probably damaging	Het
Cdh2	A	G	18: 16,648,608	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,266,706	I1169T	probably benign	Het
Cenpj	A	G	14: 56,535,454	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,969,757	H1497L	probably benign	Het
Chat	A	G	14: 32,453,818	M95T	probably damaging	Het
Csmd1	T	C	8: 16,002,694		probably null	Het
Csmd3	T	C	15: 47,585,753	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,712,562		probably null	Het
Dll1	C	T	17: 15,370,566	A332T	probably benign	Het
Dmrta1	A	T	4: 89,688,784	Q159L	probably benign	Het
Eci3	A	T	13: 34,948,758	M212K	probably damaging	Het
Eml4	T	C	17: 83,461,533	F557L	probably benign	Het
Fat3	A	T	9: 15,996,894	V2604D	probably damaging	Het
Frem3	T	C	8: 80,668,957	V1871A	possibly damaging	Het
Gas2l2	T	C	11: 83,423,098	I463V	probably benign	Het
H2-M3	C	A	17: 37,272,419	T257K	probably damaging	Het
Hdgf	A	G	3: 87,914,576	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,345,773	N226Y	probably damaging	Het
Itgav	T	C	2: 83,755,902	Y169H	probably benign	Het
Kalrn	T	G	16: 34,028,705	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,234,101	V646M	probably damaging	Het
Kif6	T	C	17: 49,901,296	V735A	probably benign	Het
Krt2	T	A	15: 101,817,591	I171F	probably damaging	Het
Megf8	G	A	7: 25,355,098	A1880T	possibly damaging	Het
Miox	A	T	15: 89,336,121	Y172F	probably benign	Het
Myo18a	G	A	11: 77,817,947	R48H	possibly damaging	Het
Ndufb7	T	C	8: 83,566,858	S14P	probably damaging	Het
Npepps	A	T	11: 97,238,244	H371Q	probably damaging	Het
Olfr596	C	T	7: 103,309,958	T79I	probably benign	Het
Olfr672	T	A	7: 104,996,623	I94F	probably damaging	Het
Olfr876	A	G	9: 37,804,819	T303A	probably benign	Het
Olfr976	C	T	9: 39,956,909	V9M	probably damaging	Het
Orc5	A	T	5: 22,529,176	D203E	probably damaging	Het
Pappa	A	G	4: 65,327,028	T1518A	probably benign	Het
Pde6a	A	G	18: 61,262,492	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,762,286	V136I	possibly damaging	Het
Postn	A	C	3: 54,376,993	D627A	probably damaging	Het
Prpf39	T	C	12: 65,042,563	V25A	probably benign	Het
Pxdc1	A	G	13: 34,652,314	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,154,215	E514V	probably damaging	Het
Rag1	A	T	2: 101,643,680	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,240,104		probably benign	Het
Rexo5	A	G	7: 119,827,303	I317V	probably benign	Het
Rragc	A	G	4: 123,924,829	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,306,926	S187P	probably damaging	Het
Senp3	T	A	11: 69,677,118	Y432F	probably benign	Het
Slfn5	G	A	11: 82,961,652	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,037,494	A722T	probably benign	Het
Sptb	A	T	12: 76,583,807	C2244*	probably null	Het
Srbd1	A	T	17: 86,109,265	F488L	probably benign	Het
Sucnr1	A	G	3: 60,086,769	I239M	possibly damaging	Het
Themis2	A	G	4: 132,786,022	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,953	N37T	probably benign	Het
Tmem62	A	G	2: 120,996,364		probably benign	Het
Tmprss15	T	C	16: 79,021,470	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,704,396	M75I	probably benign	Het
Trio	T	A	15: 27,871,171	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698	G64E	probably damaging	Het
Usp32	C	A	11: 85,059,127		probably null	Het
Wdfy3	A	T	5: 101,906,145	F1603Y	probably damaging	Het
Wdr63	A	T	3: 146,042,809	L850Q	probably damaging	Het
Xpo4	A	T	14: 57,630,325	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,949,892	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,962,753	Y792*	probably null	Het

Other mutations in Gart

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Gart	APN	16	91638789	missense	possibly damaging	0.58
IGL00837:Gart	APN	16	91638720	unclassified	probably benign
IGL01010:Gart	APN	16	91643092	nonsense	probably null
IGL01064:Gart	APN	16	91623007	missense	probably damaging	1.00
IGL01451:Gart	APN	16	91625512	missense	probably benign
IGL02084:Gart	APN	16	91621600	missense	probably benign
IGL02301:Gart	APN	16	91621837	splice site	probably benign
IGL02814:Gart	APN	16	91623457	missense	possibly damaging	0.58
sylvester	UTSW	16	91630602	splice site	probably benign
PIT4453001:Gart	UTSW	16	91636538	missense	probably damaging	1.00
R0137:Gart	UTSW	16	91625394	missense	probably benign
R0197:Gart	UTSW	16	91623403	missense	possibly damaging	0.95
R0321:Gart	UTSW	16	91623037	unclassified	probably benign
R0322:Gart	UTSW	16	91623037	unclassified	probably benign
R0398:Gart	UTSW	16	91639449	missense	probably damaging	1.00
R0410:Gart	UTSW	16	91641327	missense	probably damaging	1.00
R0496:Gart	UTSW	16	91623037	unclassified	probably benign
R0620:Gart	UTSW	16	91630602	splice site	probably benign
R0628:Gart	UTSW	16	91633902	missense	probably benign	0.01
R0883:Gart	UTSW	16	91623403	missense	possibly damaging	0.95
R1346:Gart	UTSW	16	91628182	splice site	probably null
R1490:Gart	UTSW	16	91624344	missense	probably damaging	1.00
R1686:Gart	UTSW	16	91625349	missense	probably damaging	1.00
R1751:Gart	UTSW	16	91642949	splice site	probably benign
R1917:Gart	UTSW	16	91628149	missense	probably damaging	1.00
R2144:Gart	UTSW	16	91630081	missense	probably damaging	1.00
R2421:Gart	UTSW	16	91643040	splice site	probably null
R4305:Gart	UTSW	16	91633992	missense	possibly damaging	0.48
R4377:Gart	UTSW	16	91634094	missense	probably benign	0.31
R4599:Gart	UTSW	16	91622945	nonsense	probably null
R4619:Gart	UTSW	16	91625433	missense	probably damaging	1.00
R5112:Gart	UTSW	16	91634045	missense	probably benign	0.02
R5902:Gart	UTSW	16	91628527	missense	probably damaging	1.00
R5975:Gart	UTSW	16	91624336	missense	probably damaging	1.00
R6736:Gart	UTSW	16	91636107	missense	probably benign	0.21
R7041:Gart	UTSW	16	91643143	start gained	probably benign
R7150:Gart	UTSW	16	91628463	missense	possibly damaging	0.69
R7320:Gart	UTSW	16	91621681	missense	probably benign	0.00
R7709:Gart	UTSW	16	91622965	missense	possibly damaging	0.92
R7748:Gart	UTSW	16	91630652	missense	possibly damaging	0.66
R7911:Gart	UTSW	16	91638784	missense	probably benign	0.23
R8066:Gart	UTSW	16	91639447	missense	probably benign
R8209:Gart	UTSW	16	91628153	missense	possibly damaging	0.78
R8824:Gart	UTSW	16	91630703	missense	possibly damaging	0.64
R8840:Gart	UTSW	16	91636122	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATGTGTCTGCACCAGTGTATG -3'
(R):5'- TGAAGCAGAGAACGCACCTC -3'

Sequencing Primer
(F):5'- TGTATGGGTAAAGACAGATGCC -3'
(R):5'- TCCTCCAAGTATCAGTACTGACAG -3'

Posted On

2015-09-25