Mutagenetix > Incidental Mutations

Incidental Mutation 'R7709:Gart'

594505

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Gaps, Prgs

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7709 (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 G at 91622965 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 885 (F885L)

Ref Sequence

ENSEMBL: ENSMUSP00000023684 (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: F885L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: F885L

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

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: F885L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000232640

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,407,685	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,942,854	C170R	possibly damaging	Het
4932415D10Rik	A	C	10: 82,290,532	S2215A	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,587,410		probably null	Het
A2m	A	C	6: 121,660,104	T809P	possibly damaging	Het
Abca12	T	C	1: 71,335,728	D340G	probably benign	Het
Abcg8	A	T	17: 84,692,491	D191V	probably damaging	Het
Acan	G	T	7: 79,089,608	V255F	probably damaging	Het
Ace	G	A	11: 105,988,837	V1248I	probably benign	Het
Adgre1	A	T	17: 57,402,519	Q87L	unknown	Het
Adgrl1	G	A	8: 83,938,988	V1435M	probably benign	Het
Ano8	T	C	8: 71,482,289	D423G	probably damaging	Het
Aox3	T	C	1: 58,180,651	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,405,056	D114G	probably benign	Het
Baiap2l2	G	T	15: 79,259,711	N394K	probably benign	Het
Cap1	A	T	4: 122,862,674	C355S	probably damaging	Het
Ccdc25	A	T	14: 65,840,484	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,538,651	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,173,015		probably benign	Het
CN725425	C	A	15: 91,240,727	R157S	probably benign	Het
Coq8b	T	C	7: 27,250,537	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,990,060	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,374,411	V83A	possibly damaging	Het
Daam1	G	A	12: 71,977,649	R797H	probably benign	Het
Dab1	C	A	4: 104,720,559	S275*	probably null	Het
Dgkz	T	C	2: 91,937,059	E863G	probably benign	Het
Dhx34	G	A	7: 16,212,864	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,702,484		probably null	Het
Dnmt3b	C	A	2: 153,672,220	N384K	probably benign	Het
Dock5	A	G	14: 67,796,005	Y972H	probably benign	Het
Etv5	A	T	16: 22,412,847	Y138*	probably null	Het
Fdps	A	G	3: 89,101,090	S4P	probably damaging	Het
Gm32687	A	T	10: 81,879,494	H240L	probably damaging	Het
Gm34653	T	G	2: 34,838,425	C79G	probably damaging	Het
Gm4553	C	T	7: 142,165,647	G15R	unknown	Het
Gm572	C	T	4: 148,668,951	T351M	probably damaging	Het
Gpr3	A	T	4: 133,210,437	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,701,781	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,094,789	H661R	unknown	Het
Heatr4	A	T	12: 83,957,725	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Ift81	C	T	5: 122,609,331	V91M	probably damaging	Het
Igsf10	G	T	3: 59,331,543	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,260,399	V257A	probably benign	Het
Ina	A	T	19: 47,023,643	K500I		Het
Lce1i	A	T	3: 92,777,759	C37S	unknown	Het
Lrrc59	A	T	11: 94,634,985	D133V	probably damaging	Het
Magi3	A	G	3: 104,034,038	I867T	probably damaging	Het
Mmaa	T	A	8: 79,269,201	R298W	probably damaging	Het
Mon1a	G	T	9: 107,900,128	V77F	probably benign	Het
Mrc2	A	G	11: 105,346,459	T1030A	probably benign	Het
Mrps27	T	A	13: 99,404,996	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,011	M204K	probably damaging	Het
Mtus1	A	G	8: 41,054,650	I21T	possibly damaging	Het
Myh2	T	C	11: 67,194,864	V1844A	probably benign	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Nbr1	T	G	11: 101,556,241	F18V	probably damaging	Het
Npy2r	T	C	3: 82,540,382	N362S	probably benign	Het
Ocln	T	A	13: 100,539,598	Y129F	probably damaging	Het
Olfr1258	T	C	2: 89,929,881	I24T	probably benign	Het
Olfr31	T	C	14: 14,328,384	I91T	probably damaging	Het
Olfr898	A	G	9: 38,349,277	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,079,841		probably null	Het
Prss39	A	G	1: 34,502,628	D262G	probably damaging	Het
Ptk7	T	A	17: 46,571,643	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,537,327	I640T	possibly damaging	Het
Rogdi	A	G	16: 5,009,234	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,513,322	M283K	probably damaging	Het
Sardh	T	A	2: 27,241,517	T188S	possibly damaging	Het
Sebox	A	G	11: 78,504,093	E87G	probably damaging	Het
Smchd1	A	T	17: 71,358,198	M1830K	probably damaging	Het
Spink8	G	A	9: 109,816,780	V7I	probably benign	Het
Src	G	A	2: 157,457,244	V54M	probably benign	Het
Taar2	A	G	10: 23,940,723	I54V	probably benign	Het
Tpo	A	T	12: 30,131,860	V12E	possibly damaging	Het
Txk	T	C	5: 72,707,575	D373G	probably damaging	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Vil1	C	T	1: 74,426,595	T515M	probably benign	Het
Wdr47	G	T	3: 108,618,521	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,013,025	P335L	unknown	Het
Zfp148	T	A	16: 33,468,175	I220N	probably damaging	Het
Zfp992	A	T	4: 146,467,165	K448*	probably null	Het
Zfp994	T	C	17: 22,200,425	I514M	probably benign	Het
Zp2	A	T	7: 120,135,775	I429N	probably 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
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'- CAGGGATTAGTGACAGCCAG -3'
(R):5'- CCGCAGATGCTTGTGAAATC -3'

Sequencing Primer
(F):5'- AGTCCAGCTGAGTGACCAC -3'
(R):5'- CAGATGCTTGTGAAATCTTGGGAC -3'

Posted On

2019-11-12