Mutagenetix > Incidental Mutations

Incidental Mutation 'R0197:Gart'

23516

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

038456-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0197 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91621186-91646952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91623403 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 851 (D851Y)

Ref Sequence

ENSEMBL: ENSMUSP00000156002 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023684
AA Change: D851Y

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: D851Y

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

possibly damaging
Transcript: ENSMUST00000232289
AA Change: D851Y

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232620

Predicted Effect

probably benign
Transcript: ENSMUST00000232640

Predicted Effect

probably benign
Transcript: ENSMUST00000232643

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.5%
20x: 75.9%

Validation Efficiency

97% (121/125)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,871	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821	*118W	probably null	Het
1700061G19Rik	A	T	17: 56,883,835	N468Y	probably benign	Het
2610507B11Rik	A	C	11: 78,269,704		probably benign	Het
4930452B06Rik	C	T	14: 8,518,695	G254R	probably damaging	Het
Abcc2	A	T	19: 43,826,614	R1147*	probably null	Het
Agap2	A	G	10: 127,091,702	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,361,847	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,730,042	A97E	probably damaging	Het
Arhgef10	T	A	8: 14,962,636	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,266,010	V498L	probably damaging	Het
Ccdc189	T	C	7: 127,584,862	E261G	probably damaging	Het
Cdh2	T	C	18: 16,629,576	N437S	probably benign	Het
Chd1	C	A	17: 15,725,431	N72K	probably benign	Het
Col4a3bp	T	A	13: 96,549,287	Y63N	probably benign	Het
Cstf2t	A	T	19: 31,084,626	M521L	probably benign	Het
Dlx5	T	C	6: 6,881,619	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,207,630	E32G	possibly damaging	Het
Espnl	T	G	1: 91,344,489	Y524D	probably damaging	Het
Fam20c	T	C	5: 138,755,724	L30P	probably damaging	Het
Fat1	G	T	8: 45,026,553	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,774,389	V337D	probably damaging	Het
Gcc1	T	C	6: 28,420,616	H234R	probably damaging	Het
Gemin6	T	A	17: 80,228,095	H161Q	probably damaging	Het
Glt6d1	A	G	2: 25,794,070	I308T	probably benign	Het
Gm10320	T	C	13: 98,491,983	T7A	probably benign	Het
Gm10912	T	C	2: 104,066,530	S5P	probably benign	Het
Gm13088	C	T	4: 143,656,440	E70K	possibly damaging	Het
Gmpr2	T	A	14: 55,672,735	D7E	possibly damaging	Het
Hc	A	G	2: 34,984,750	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,170,143		probably benign	Het
Ift140	A	G	17: 25,090,933	T1105A	probably benign	Het
Kdr	G	T	5: 75,968,422	T188N	possibly damaging	Het
Lepr	A	T	4: 101,752,152	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,810,105	V501A	probably damaging	Het
Mcur1	T	C	13: 43,545,740	Y267C	probably damaging	Het
Med13	T	A	11: 86,307,038	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002		probably benign	Het
Mroh2a	G	C	1: 88,246,042	A871P	probably damaging	Het
Ndrg2	T	A	14: 51,907,003		probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1258	A	G	2: 89,930,201	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791	V69I	probably benign	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Olfr558	T	A	7: 102,709,995	H245Q	probably damaging	Het
Onecut2	T	A	18: 64,341,472	S365T	possibly damaging	Het
Pds5b	C	A	5: 150,754,431	Q505K	probably benign	Het
Rfx2	T	C	17: 56,803,722	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478	V214A	probably benign	Het
Samd3	T	A	10: 26,271,854	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Shank1	C	T	7: 44,352,294	R1146W	unknown	Het
Smcr8	T	C	11: 60,778,115	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,641,597		probably null	Het
Strip1	C	A	3: 107,614,613	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851	K2312E	possibly damaging	Het
Taf1c	A	T	8: 119,599,983	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,530,014		probably benign	Het
Unc45b	T	A	11: 82,940,205	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,407,133	W1754R	probably damaging	Het
Utp20	G	A	10: 88,777,516	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,359,781	S743T	probably damaging	Het
Vps41	T	G	13: 18,854,663		probably null	Het
Vps72	G	T	3: 95,122,583	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441	I907N	probably damaging	Het
Zfp521	T	C	18: 13,845,062	T765A	probably benign	Het
Zfp616	A	T	11: 74,085,674	H923L	probably damaging	Het
Zp2	A	T	7: 120,143,576		probably benign	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
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	unclassified	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
R4620: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

Predicted Primers

PCR Primer
(F):5'- GCAGAGTGTGAGTTTCAGTACAGCC -3'
(R):5'- TTTTGCCACGAGTAGCACTGCC -3'

Sequencing Primer
(F):5'- AAGGCCTCTTCTGCAGTCA -3'
(R):5'- CGTCTTTTAGACAATGGTCCAG -3'

Posted On

2013-04-16