Mutagenetix > Incidental Mutation

Incidental Mutation 'R5112:Gart'

393972

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

042700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91621186-91646952 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91634045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 376 (D376E)

Ref Sequence

ENSEMBL: ENSMUSP00000156002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000120450] [ENSMUST00000156713] [ENSMUST00000231380] [ENSMUST00000232289] [ENSMUST00000232367]

AlphaFold

Q64737

Predicted Effect

probably benign
Transcript: ENSMUST00000023684
AA Change: D376E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: D376E

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
AA Change: D376E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114034
Gene: ENSMUSG00000022962
AA Change: D376E

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
AA Change: D376E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231702

Predicted Effect

probably benign
Transcript: ENSMUST00000232289
AA Change: D376E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000232367

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,877,465	M80K	probably benign	Het
Abca2	A	G	2: 25,438,371	K846R	probably damaging	Het
Acsm5	A	G	7: 119,537,279	K358E	possibly damaging	Het
Adam26a	A	T	8: 43,568,856	D532E	probably benign	Het
Adamts19	C	T	18: 59,031,804	R993*	probably null	Het
Akr1c13	A	G	13: 4,194,152	K68R	possibly damaging	Het
Als2cr12	T	C	1: 58,659,282	T326A	probably benign	Het
Amer3	T	A	1: 34,587,076	M132K	possibly damaging	Het
Ankrd2	A	G	19: 42,039,887	D38G	possibly damaging	Het
Ano7	G	A	1: 93,397,363	V546M	possibly damaging	Het
Aox2	G	A	1: 58,310,095		probably null	Het
Apc	T	A	18: 34,316,109	C1985*	probably null	Het
Astn1	C	T	1: 158,657,193	S15F	possibly damaging	Het
Atp13a4	A	T	16: 29,409,868	N950K	possibly damaging	Het
Bcl6	A	G	16: 23,972,746	V286A	probably benign	Het
Brox	T	A	1: 183,291,977	T79S	probably benign	Het
C2cd3	A	T	7: 100,443,485	I512F	possibly damaging	Het
Camta1	A	G	4: 151,074,054	L542S	probably damaging	Het
Capn13	GCA	G	17: 73,351,506		probably null	Het
Card10	C	T	15: 78,802,380		probably null	Het
Cd96	A	G	16: 46,098,938	M240T	probably benign	Het
Cdc123	A	G	2: 5,804,937	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,954,624	V46A	possibly damaging	Het
Clcn3	G	A	8: 60,954,552	H24Y	probably benign	Het
Col11a2	T	C	17: 34,064,088		probably benign	Het
Cpsf3	A	T	12: 21,291,784	M50L	probably benign	Het
Csf3	T	A	11: 98,702,923	L197Q	probably damaging	Het
Ctsw	T	A	19: 5,466,257	D196V	probably damaging	Het
Dcun1d3	A	T	7: 119,858,027	I154K	probably damaging	Het
Ddr1	T	C	17: 35,682,485	T877A	probably benign	Het
Dnah8	T	A	17: 30,731,038	L1944I	probably benign	Het
Dpf3	G	T	12: 83,370,611	S29*	probably null	Het
Ephb1	A	G	9: 101,971,179	I640T	probably damaging	Het
Fat1	G	A	8: 45,024,282	G2099S	probably damaging	Het
Fbxo41	G	T	6: 85,477,924	N667K	probably damaging	Het
Glyr1	G	A	16: 5,018,876	Q475*	probably null	Het
Gm28051	G	A	12: 102,720,171	Q77*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gnmt	C	A	17: 46,726,330	R176L	probably damaging	Het
Gpr176	A	T	2: 118,280,148	V210D	possibly damaging	Het
Gtf2ird1	A	T	5: 134,402,184	D339E	probably damaging	Het
Hmbox1	A	G	14: 64,825,612	Y372H	probably damaging	Het
Ier2	G	T	8: 84,662,732	A7E	probably damaging	Het
Il20ra	A	G	10: 19,758,943	T311A	possibly damaging	Het
Il24	T	C	1: 130,883,442		probably null	Het
Insl6	G	A	19: 29,321,596	Q139*	probably null	Het
Itga2b	A	T	11: 102,458,191	I729K	probably damaging	Het
Itpr2	A	T	6: 146,233,991	M1814K	possibly damaging	Het
Klhl3	G	A	13: 58,018,889	S429F	probably damaging	Het
Lipo2	T	C	19: 33,748,465	N129S	probably benign	Het
Lrba	C	T	3: 86,225,371	T28M	probably benign	Het
Ly86	G	T	13: 37,375,037	G71C	probably damaging	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Mical2	A	G	7: 112,320,611	S443G	probably damaging	Het
Mmp17	A	G	5: 129,602,165	H376R	possibly damaging	Het
Myo7b	T	C	18: 31,983,587	H989R	probably damaging	Het
Neil2	A	G	14: 63,188,460	W154R	probably damaging	Het
Nlrp12	G	A	7: 3,240,983	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,548,728	Y377F	probably damaging	Het
Notch2	T	C	3: 98,101,636		probably null	Het
Nudcd1	A	T	15: 44,376,643	C500*	probably null	Het
Olfr1099	A	T	2: 86,959,354	Y35N	probably damaging	Het
Olfr1164	A	G	2: 88,093,009	V309A	probably damaging	Het
Olfr1449	T	C	19: 12,934,816	V26A	probably benign	Het
Olfr1537	A	G	9: 39,238,421	M1T	probably null	Het
Pabpc6	T	A	17: 9,669,611	S4C	probably damaging	Het
Pan2	C	T	10: 128,315,595	R835*	probably null	Het
Parp9	G	A	16: 35,964,313	V346I	probably damaging	Het
Pcbp4	C	T	9: 106,460,718	T69M	probably damaging	Het
Pclo	T	A	5: 14,677,882		probably benign	Het
Phldb3	A	T	7: 24,624,685	I495F	possibly damaging	Het
Plce1	G	T	19: 38,651,833	V508F	probably benign	Het
Pmpca	A	T	2: 26,395,166	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,756,443	R399H	probably damaging	Het
Ptprc	A	G	1: 138,094,299	S544P	probably damaging	Het
Rev3l	T	A	10: 39,823,330	D1274E	probably benign	Het
Ryr3	A	T	2: 112,902,665	V612E	probably damaging	Het
Scfd2	G	T	5: 74,206,321	H639Q	probably benign	Het
Sell	T	A	1: 164,065,318	H34Q	possibly damaging	Het
Setd2	A	G	9: 110,548,158	D347G	probably benign	Het
Sgip1	G	A	4: 102,869,769	D81N	probably damaging	Het
Slc12a1	A	T	2: 125,218,224	I940F	possibly damaging	Het
Slc25a34	T	A	4: 141,621,458	I232L	probably benign	Het
Slc36a3	T	A	11: 55,148,573	K76N	probably damaging	Het
Slc6a15	T	A	10: 103,389,226	D58E	probably benign	Het
Slc6a7	T	C	18: 61,007,376	S195G	probably null	Het
Svep1	G	A	4: 58,068,610	Q3059*	probably null	Het
Syce1l	A	C	8: 113,651,642	H56P	probably damaging	Het
Tbc1d2	A	G	4: 46,606,503	V814A	probably damaging	Het
Tbx18	T	A	9: 87,715,687	I265F	probably damaging	Het
Thbs2	T	C	17: 14,670,590		probably null	Het
Ttll1	T	C	15: 83,496,396	H256R	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttyh2	A	T	11: 114,696,757	T195S	probably benign	Het
Unc119b	A	G	5: 115,125,494	L217P	probably damaging	Het
Unc5a	T	C	13: 55,003,418		probably null	Het
Usp6nl	A	G	2: 6,420,903	K152E	probably benign	Het
Vcam1	T	C	3: 116,117,292	R486G	probably benign	Het
Vmn2r1	A	C	3: 64,090,123	Q400P	possibly damaging	Het
Vmn2r80	T	A	10: 79,194,458	V706D	possibly damaging	Het
Vmn2r87	A	T	10: 130,478,553	L388Q	probably damaging	Het
Vwa3a	A	T	7: 120,783,985	Y603F	probably damaging	Het
Zfp850	A	T	7: 27,990,233	C183*	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
R4620:Gart	UTSW	16	91625433	missense	probably damaging	1.00
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
R9514:Gart	UTSW	16	91630708	missense	probably benign	0.03
R9753:Gart	UTSW	16	91634061	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCGTCTCAGAGGGCATCTTTAC -3'
(R):5'- TGTTGTAGAGCATGTCTTCAATCCTG -3'

Sequencing Primer
(F):5'- CTCAGAGGGCATCTTTACCTGGG -3'
(R):5'- ATGTCTTCAATCCTGGGACCTGG -3'

Posted On

2016-06-15