Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Gart'

568175

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Prgs, Gaps

MMRRC Submission

045370-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91418074-91443840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91418569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 970 (A970E)

Ref Sequence

ENSEMBL: ENSMUSP00000023684 (fasta)

Gene Model

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

AlphaFold

Q64737

Predicted Effect

probably benign
Transcript: ENSMUST00000023684
AA Change: A970E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: A970E

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

probably benign
Transcript: ENSMUST00000232289
AA Change: A970E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000232640
AA Change: A59E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000232643

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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
Abcc3	A	G	11: 94,258,471 (GRCm39)	I458T	probably benign	Het
Adam29	A	G	8: 56,325,749 (GRCm39)	I235T	possibly damaging	Het
Afap1	G	A	5: 36,105,567 (GRCm39)	V174I	probably damaging	Het
Ak8	A	T	2: 28,703,004 (GRCm39)	D456V	probably damaging	Het
Alb	T	C	5: 90,612,846 (GRCm39)		probably null	Het
Alox12	C	T	11: 70,145,298 (GRCm39)	A92T	probably benign	Het
Arhgap23	T	C	11: 97,342,371 (GRCm39)	S218P	probably benign	Het
Blm	G	A	7: 80,105,102 (GRCm39)	Q1389*	probably null	Het
C1ql4	A	T	15: 98,985,605 (GRCm39)	V2E	unknown	Het
Casp12	A	G	9: 5,348,897 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,829,521 (GRCm39)	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 89,873,242 (GRCm39)	G371D	probably damaging	Het
Cfap65	A	G	1: 74,965,763 (GRCm39)	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,012 (GRCm39)	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,294,827 (GRCm39)	H311Q	probably benign	Het
Cldn13	T	G	5: 134,943,874 (GRCm39)	I104L	probably benign	Het
Cul9	A	G	17: 46,821,835 (GRCm39)	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,416,105 (GRCm39)	D407E	probably damaging	Het
Ddx28	G	A	8: 106,737,957 (GRCm39)	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,616 (GRCm39)	N973Y	probably null	Het
Dnai4	A	T	4: 102,907,384 (GRCm39)	I634N	possibly damaging	Het
Dock10	A	G	1: 80,527,421 (GRCm39)		probably null	Het
Dock3	T	C	9: 106,772,723 (GRCm39)	D510G	probably benign	Het
Dst	T	A	1: 34,230,175 (GRCm39)	D2589E	probably benign	Het
E2f7	T	C	10: 110,599,991 (GRCm39)	Y249H	not run	Het
Eef2kmt	T	C	16: 5,068,373 (GRCm39)	Y69C	possibly damaging	Het
Elapor1	T	A	3: 108,371,619 (GRCm39)	K650*	probably null	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exog	G	T	9: 119,291,544 (GRCm39)	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,371,896 (GRCm39)	V98M	probably benign	Het
Fras1	C	T	5: 96,857,745 (GRCm39)	T2013I	probably benign	Het
Gga2	T	A	7: 121,601,326 (GRCm39)	H259L	probably benign	Het
Glis3	C	A	19: 28,508,998 (GRCm39)	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923 (GRCm38)	N53I	probably damaging	Het
Golgb1	C	A	16: 36,736,313 (GRCm39)	C1894*	probably null	Het
Ifi203	T	C	1: 173,756,733 (GRCm39)	N350S	unknown	Het
Isy1	T	A	6: 87,810,688 (GRCm39)	R55S	unknown	Het
Itsn1	A	T	16: 91,636,587 (GRCm39)	D678V	unknown	Het
Lhcgr	T	A	17: 89,049,506 (GRCm39)	R673S	probably benign	Het
Lnx2	C	A	5: 146,956,943 (GRCm39)	R601L	possibly damaging	Het
Map4	A	G	9: 109,910,585 (GRCm39)	T1093A	probably benign	Het
Minar1	A	G	9: 89,483,679 (GRCm39)	S573P	probably benign	Het
Mink1	A	G	11: 70,489,899 (GRCm39)	K92E	probably benign	Het
Moxd1	A	G	10: 24,177,363 (GRCm39)	I560V	probably benign	Het
Mrc2	C	A	11: 105,220,061 (GRCm39)	D327E	possibly damaging	Het
Notch2	A	G	3: 98,038,643 (GRCm39)	E1262G	possibly damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or4k48	A	G	2: 111,476,297 (GRCm39)	L15S	probably benign	Het
Or52d3	C	A	7: 104,229,645 (GRCm39)	S264*	probably null	Het
Or5an1	G	A	19: 12,261,180 (GRCm39)	G256D	possibly damaging	Het
Or5b120	T	A	19: 13,480,544 (GRCm39)	M279K	possibly damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or5m13	A	T	2: 85,748,718 (GRCm39)	I150F	probably benign	Het
Or6c5b	A	T	10: 129,245,654 (GRCm39)	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,381,782 (GRCm39)	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,522,953 (GRCm39)	Y104F	probably benign	Het
Plscr2	T	C	9: 92,173,193 (GRCm39)		probably null	Het
Ppfibp1	C	T	6: 146,879,551 (GRCm39)	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,541,034 (GRCm39)	G158D	probably benign	Het
Ptgs2	T	C	1: 149,978,446 (GRCm39)	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,564,956 (GRCm39)	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,368,673 (GRCm39)	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,085,122 (GRCm39)		probably null	Het
Sema3b	T	A	9: 107,478,141 (GRCm39)	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,073,216 (GRCm39)	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,055,887 (GRCm39)	R5C	possibly damaging	Het
Slmap	A	G	14: 26,181,227 (GRCm39)	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,361,894 (GRCm39)	N181S	possibly damaging	Het
Sqor	A	G	2: 122,641,730 (GRCm39)	T235A	probably benign	Het
St13	A	G	15: 81,273,854 (GRCm39)	L80P	probably damaging	Het
St3gal6	A	G	16: 58,314,074 (GRCm39)	Y20H	probably benign	Het
Sun1	T	G	5: 139,234,239 (GRCm39)	Y899D	probably damaging	Het
Synm	C	T	7: 67,385,128 (GRCm39)	E845K	possibly damaging	Het
Tg	A	T	15: 66,566,633 (GRCm39)	D1227V	possibly damaging	Het
Thbs1	A	G	2: 117,945,438 (GRCm39)	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,414,357 (GRCm39)	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,265,505 (GRCm39)	D856G	probably benign	Het
Vil1	G	A	1: 74,457,603 (GRCm39)	A79T	probably damaging	Het
Vmn1r119	T	A	7: 20,746,271 (GRCm39)	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,816,316 (GRCm39)	M69K	probably benign	Het
Ywhaq	A	G	12: 21,444,982 (GRCm39)	L221P	probably damaging	Het
Zfp142	G	A	1: 74,609,167 (GRCm39)	Q1543*	probably null	Het
Zfp384	T	A	6: 125,001,793 (GRCm39)	M146K	possibly damaging	Het

Other mutations in Gart

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Gart	APN	16	91,435,677 (GRCm39)	missense	possibly damaging	0.58
IGL00837:Gart	APN	16	91,435,608 (GRCm39)	unclassified	probably benign
IGL01010:Gart	APN	16	91,439,980 (GRCm39)	nonsense	probably null
IGL01064:Gart	APN	16	91,419,895 (GRCm39)	missense	probably damaging	1.00
IGL01451:Gart	APN	16	91,422,400 (GRCm39)	missense	probably benign
IGL02084:Gart	APN	16	91,418,488 (GRCm39)	missense	probably benign
IGL02301:Gart	APN	16	91,418,725 (GRCm39)	splice site	probably benign
IGL02814:Gart	APN	16	91,420,345 (GRCm39)	missense	possibly damaging	0.58
sylvester	UTSW	16	91,427,490 (GRCm39)	splice site	probably benign
PIT4453001:Gart	UTSW	16	91,433,426 (GRCm39)	missense	probably damaging	1.00
R0137:Gart	UTSW	16	91,422,282 (GRCm39)	missense	probably benign
R0197:Gart	UTSW	16	91,420,291 (GRCm39)	missense	possibly damaging	0.95
R0321:Gart	UTSW	16	91,419,925 (GRCm39)	unclassified	probably benign
R0322:Gart	UTSW	16	91,419,925 (GRCm39)	unclassified	probably benign
R0398:Gart	UTSW	16	91,436,337 (GRCm39)	missense	probably damaging	1.00
R0410:Gart	UTSW	16	91,438,215 (GRCm39)	missense	probably damaging	1.00
R0496:Gart	UTSW	16	91,419,925 (GRCm39)	unclassified	probably benign
R0620:Gart	UTSW	16	91,427,490 (GRCm39)	splice site	probably benign
R0628:Gart	UTSW	16	91,430,790 (GRCm39)	missense	probably benign	0.01
R0883:Gart	UTSW	16	91,420,291 (GRCm39)	missense	possibly damaging	0.95
R1346:Gart	UTSW	16	91,425,070 (GRCm39)	splice site	probably null
R1490:Gart	UTSW	16	91,421,232 (GRCm39)	missense	probably damaging	1.00
R1686:Gart	UTSW	16	91,422,237 (GRCm39)	missense	probably damaging	1.00
R1751:Gart	UTSW	16	91,439,837 (GRCm39)	splice site	probably benign
R1917:Gart	UTSW	16	91,425,037 (GRCm39)	missense	probably damaging	1.00
R2144:Gart	UTSW	16	91,426,969 (GRCm39)	missense	probably damaging	1.00
R2421:Gart	UTSW	16	91,439,928 (GRCm39)	splice site	probably null
R4305:Gart	UTSW	16	91,430,880 (GRCm39)	missense	possibly damaging	0.48
R4377:Gart	UTSW	16	91,430,982 (GRCm39)	missense	probably benign	0.31
R4599:Gart	UTSW	16	91,419,833 (GRCm39)	nonsense	probably null
R4619:Gart	UTSW	16	91,422,321 (GRCm39)	missense	probably damaging	1.00
R4620:Gart	UTSW	16	91,422,321 (GRCm39)	missense	probably damaging	1.00
R5112:Gart	UTSW	16	91,430,933 (GRCm39)	missense	probably benign	0.02
R5902:Gart	UTSW	16	91,425,415 (GRCm39)	missense	probably damaging	1.00
R5975:Gart	UTSW	16	91,421,224 (GRCm39)	missense	probably damaging	1.00
R6736:Gart	UTSW	16	91,432,995 (GRCm39)	missense	probably benign	0.21
R7041:Gart	UTSW	16	91,440,031 (GRCm39)	start gained	probably benign
R7150:Gart	UTSW	16	91,425,351 (GRCm39)	missense	possibly damaging	0.69
R7709:Gart	UTSW	16	91,419,853 (GRCm39)	missense	possibly damaging	0.92
R7748:Gart	UTSW	16	91,427,540 (GRCm39)	missense	possibly damaging	0.66
R7911:Gart	UTSW	16	91,435,672 (GRCm39)	missense	probably benign	0.23
R8066:Gart	UTSW	16	91,436,335 (GRCm39)	missense	probably benign
R8209:Gart	UTSW	16	91,425,041 (GRCm39)	missense	possibly damaging	0.78
R8824:Gart	UTSW	16	91,427,591 (GRCm39)	missense	possibly damaging	0.64
R8840:Gart	UTSW	16	91,433,010 (GRCm39)	missense	probably benign	0.02
R9046:Gart	UTSW	16	91,418,561 (GRCm39)	missense	probably damaging	1.00
R9178:Gart	UTSW	16	91,430,904 (GRCm39)	missense	possibly damaging	0.87
R9514:Gart	UTSW	16	91,427,596 (GRCm39)	missense	probably benign	0.03
R9753:Gart	UTSW	16	91,430,949 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGATGAAAAGGCACCCAG -3'
(R):5'- CTGGAGTCACAATCACTGGG -3'

Sequencing Primer
(F):5'- CACCCAGCAAGGCCCTG -3'
(R):5'- GAGTCACAATCACTGGGTGTACC -3'

Posted On

2019-06-26