Mutagenetix > Incidental Mutation

Incidental Mutation 'R9514:Gart'

718415

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9514 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91621186-91646952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91630708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 467 (S467R)

Ref Sequence

ENSEMBL: ENSMUSP00000023684 (fasta)

Gene Model

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

AlphaFold

Q64737

Predicted Effect

probably benign
Transcript: ENSMUST00000023684
AA Change: S467R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: S467R

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

probably benign
Transcript: ENSMUST00000232289
AA Change: S467R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,742,992	V338A	probably damaging	Het
1810065E05Rik	T	C	11: 58,421,707	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Acsl6	A	G	11: 54,335,054	N307D	probably benign	Het
Atxn1	A	G	13: 45,567,957	V154A	probably benign	Het
Cacna2d4	T	C	6: 119,236,650	L10S	probably benign	Het
Cd33	A	T	7: 43,532,726	H98Q	probably benign	Het
Cebpz	A	T	17: 78,932,255	M579K	probably benign	Het
Cenpk	T	G	13: 104,234,174	C103G	probably benign	Het
Cep97	T	A	16: 55,905,730	Q670L	probably benign	Het
Cfap65	C	T	1: 74,906,309		probably null	Het
Cir1	A	G	2: 73,312,437	S18P	probably damaging	Het
Coprs	T	C	8: 13,885,081	Y158C	probably damaging	Het
Creld1	T	C	6: 113,492,804	F389S	probably damaging	Het
Dimt1	T	C	13: 106,957,128	I276T	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Dsp	T	A	13: 38,187,805	C911S	probably benign	Het
Egr3	A	G	14: 70,077,529	I29V	probably benign	Het
Fam186a	A	G	15: 99,946,885	S493P	unknown	Het
Fam83a	G	A	15: 57,986,369	G103D	possibly damaging	Het
Fat2	T	A	11: 55,284,982	Q1635L	probably damaging	Het
Figla	A	C	6: 86,020,707	H139P	probably benign	Het
Fryl	T	C	5: 73,104,772	K551E	probably damaging	Het
Galr2	A	G	11: 116,283,626	T361A	probably benign	Het
Ggps1	T	C	13: 14,055,157	K45R	probably benign	Het
Ghsr	G	C	3: 27,372,481	V229L	possibly damaging	Het
Hectd2	A	T	19: 36,605,289	H473L	possibly damaging	Het
Hic2	T	C	16: 17,258,429	V374A	possibly damaging	Het
Hist2h2ab	A	G	3: 96,220,085	E57G	probably damaging	Het
Hivep2	T	A	10: 14,129,779	I707N	probably benign	Het
Il17rc	T	C	6: 113,472,780	S116P	probably damaging	Het
Krt34	A	T	11: 100,038,400	I328N	probably damaging	Het
Krt79	G	A	15: 101,931,853	R303C	probably damaging	Het
Lama2	T	C	10: 27,224,019	E830G	probably benign	Het
Lamb2	C	T	9: 108,480,807	T149I	probably damaging	Het
Mau2	T	C	8: 70,027,503	Y318C	probably damaging	Het
Mier2	T	C	10: 79,541,662	S486G	probably benign	Het
Mllt10	A	G	2: 18,159,511	D284G	probably damaging	Het
Nbea	A	T	3: 56,029,945	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,406,213	S1724P	probably benign	Het
Nipal4	T	A	11: 46,162,095		probably null	Het
Nlrc4	G	C	17: 74,446,741	L216V	probably benign	Het
Ogfr	A	G	2: 180,593,624	M164V	possibly damaging	Het
Olfr1271	G	A	2: 90,266,365	Q22*	probably null	Het
Olfr99	G	T	17: 37,280,495		probably benign	Het
Pcdha12	G	T	18: 37,022,473	W748C	probably damaging	Het
Pkd1l3	T	C	8: 109,669,217	V2083A	probably damaging	Het
Plin3	C	A	17: 56,280,824	G297V	probably benign	Het
Prex1	C	T	2: 166,577,976	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,911,303	V47A	probably benign	Het
Ptch1	T	C	13: 63,527,257	T851A	probably benign	Het
Ptk7	T	A	17: 46,576,818	I563F	possibly damaging	Het
Ptprm	A	G	17: 66,809,471	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,518,764		probably benign	Het
Rapgef6	T	C	11: 54,552,858	V89A	probably benign	Het
Sh2b1	AGCTCAGCCACGGGGACC	AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC	7: 126,467,578		probably benign	Het
Sh2b1	ACCAGCTC	ACCAGCTCAGCCACGGGGGCCAGCTC	7: 126,467,593		probably benign	Het
Sh2b1	CTC	CTCCGCCACGGGGACCAGTTC	7: 126,467,598		probably benign	Het
Slain1	T	A	14: 103,695,312	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,335,472	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,682,052	F914S	possibly damaging	Het
Smarca5	A	C	8: 80,702,211	L1003V	probably damaging	Het
Spata18	A	T	5: 73,672,497	I332F		Het
Stard9	C	G	2: 120,704,083	P3607R	probably damaging	Het
Tbx19	A	G	1: 165,138,977	S443P	unknown	Het
Tktl2	C	G	8: 66,513,188	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,657,778	V17A	probably benign	Het
Tom1l2	T	C	11: 60,262,660	T164A	probably damaging	Het
Tor1aip1	T	A	1: 156,030,431	D205V	probably damaging	Het
Tpp2	T	A	1: 43,978,488	S751T	probably benign	Het
Trim11	G	T	11: 58,987,651	A251S	unknown	Het
Trim33	T	C	3: 103,331,758	V684A	probably benign	Het
Triobp	C	T	15: 78,993,178	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,982,676	N1225S	probably benign	Het
Uhrf1bp1	A	G	17: 27,893,440	D1201G	probably damaging	Het
Usp21	T	C	1: 171,284,930	Y300C	probably damaging	Het
Usp32	T	C	11: 85,022,734	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,354,845	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,712,713	T183A	probably benign	Het
Zc3h8	T	C	2: 128,931,303	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,338,544	D55E	probably benign	Het
Zfp408	A	T	2: 91,648,023	W26R	probably damaging	Het
Zfp937	G	T	2: 150,238,970	A307S	possibly damaging	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
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
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
R9046:Gart	UTSW	16	91621673	missense	probably damaging	1.00
R9178:Gart	UTSW	16	91634016	missense	possibly damaging	0.87
R9753:Gart	UTSW	16	91634061	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACCTGAGCTACATGGTTG -3'
(R):5'- GCTGAGGGAAGCTTTTCAAAG -3'

Sequencing Primer
(F):5'- AGCTCCTGCCTGTTAAGAAG -3'
(R):5'- CTGAGGGAAGCTTTTCAAAGTATTG -3'

Posted On

2022-07-18