Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Gart'

696858

Institutional Source

Beutler Lab

Gene Symbol

Gart

Ensembl Gene

ENSMUSG00000022962

Gene Name

phosphoribosylglycinamide formyltransferase

Synonyms

Prgs, Gaps

MMRRC Submission

068978-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91418074-91443840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91430904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 386 (V386D)

Ref Sequence

ENSEMBL: ENSMUSP00000023684 (fasta)

Gene Model

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

AlphaFold

Q64737

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023684
AA Change: V386D

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: V386D

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

possibly damaging
Transcript: ENSMUST00000120450
AA Change: V386D

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114034
Gene: ENSMUSG00000022962
AA Change: V386D

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

possibly damaging
Transcript: ENSMUST00000231380
AA Change: V386D

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232289
AA Change: V386D

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000232367

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,880,992 (GRCm39)	T146S	unknown	Het
Abca8b	A	T	11: 109,840,937 (GRCm39)	F1079I	probably benign	Het
Adcy10	A	T	1: 165,403,218 (GRCm39)	Q1572L	possibly damaging	Het
Akna	T	C	4: 63,312,846 (GRCm39)	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448 (GRCm39)		probably benign	Het
Apc2	G	A	10: 80,150,235 (GRCm39)	G1763E	probably benign	Het
Bmp1	G	T	14: 70,727,613 (GRCm39)	R657S	possibly damaging	Het
Calm1	G	A	12: 100,171,979 (GRCm39)		probably null	Het
Ccdc150	C	A	1: 54,311,644 (GRCm39)	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 179,958,401 (GRCm39)	I275T		Het
Cfap54	G	T	10: 92,830,579 (GRCm39)	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,659,169 (GRCm39)	V592A	probably benign	Het
Colec11	A	T	12: 28,644,854 (GRCm39)	N213K	possibly damaging	Het
Dennd2b	C	T	7: 109,156,291 (GRCm39)	G153D	probably benign	Het
Dennd5b	G	A	6: 148,934,844 (GRCm39)	R676*	probably null	Het
Dnaaf5	T	G	5: 139,138,652 (GRCm39)	Y278D	probably damaging	Het
Dop1a	T	A	9: 86,371,796 (GRCm39)	Y162*	probably null	Het
Dync1li2	A	G	8: 105,150,255 (GRCm39)	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,883,276 (GRCm39)	T505A	probably benign	Het
Ebf1	A	G	11: 44,895,548 (GRCm39)	I584M	probably benign	Het
Eif1ad17	A	G	12: 87,978,786 (GRCm39)	R57G	probably damaging	Het
Frmpd1	T	C	4: 45,285,367 (GRCm39)	L1396P	probably damaging	Het
Gprin1	C	T	13: 54,885,601 (GRCm39)	R891H	probably damaging	Het
Gsap	G	A	5: 21,422,471 (GRCm39)	V147I	probably damaging	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Hmcn2	T	C	2: 31,281,521 (GRCm39)	V1912A	possibly damaging	Het
Icos	G	T	1: 61,034,714 (GRCm39)	S179I	probably damaging	Het
Ifi209	T	C	1: 173,464,969 (GRCm39)	L33P	probably damaging	Het
Igsf10	A	G	3: 59,233,480 (GRCm39)	I1751T	possibly damaging	Het
Il31ra	T	C	13: 112,677,780 (GRCm39)	Y252C	probably damaging	Het
Ints6	A	T	14: 62,947,036 (GRCm39)	S310T	probably damaging	Het
Kcng1	A	T	2: 168,111,105 (GRCm39)	S20T	possibly damaging	Het
Klf15	T	C	6: 90,444,091 (GRCm39)	I222T	probably damaging	Het
Lmo7	A	T	14: 102,044,906 (GRCm39)	K53*	probably null	Het
Map10	C	A	8: 126,397,649 (GRCm39)	N347K	probably damaging	Het
Mrps11	C	A	7: 78,440,444 (GRCm39)	T111K	probably damaging	Het
Myom3	T	G	4: 135,506,710 (GRCm39)	D494E	probably benign	Het
Naalad2	T	A	9: 18,242,152 (GRCm39)	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,826,050 (GRCm39)	V9A	probably benign	Het
Nrcam	G	T	12: 44,615,329 (GRCm39)	V640F	possibly damaging	Het
Or10x4	C	T	1: 174,219,229 (GRCm39)	T198I	probably benign	Het
Or2t48	C	A	11: 58,420,473 (GRCm39)	G113V	probably damaging	Het
Or52d1	T	C	7: 103,755,720 (GRCm39)	M78T	probably benign	Het
Or5ak23	G	A	2: 85,244,848 (GRCm39)	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,860,892 (GRCm39)	H649Q	probably benign	Het
Pdk1	C	A	2: 71,730,402 (GRCm39)	H413Q	probably benign	Het
Pfkm	T	A	15: 98,027,161 (GRCm39)	H611Q	probably damaging	Het
Polr3g	T	C	13: 81,842,535 (GRCm39)	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,443,993 (GRCm39)	M406K	probably benign	Het
Ptf1a	C	T	2: 19,450,536 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,295,264 (GRCm39)	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,411,211 (GRCm39)	T166A	possibly damaging	Het
Sav1	A	T	12: 70,022,790 (GRCm39)	V254E	probably damaging	Het
Sel1l	T	C	12: 91,797,526 (GRCm39)	N234D	probably benign	Het
Setd1a	C	T	7: 127,385,590 (GRCm39)	P766S	possibly damaging	Het
Skida1	T	A	2: 18,050,489 (GRCm39)	K801*	probably null	Het
Slc22a5	G	A	11: 53,774,547 (GRCm39)	T146I	probably benign	Het
Slc25a24	G	T	3: 109,064,268 (GRCm39)	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,733,970 (GRCm39)	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,930,058 (GRCm39)	D46E	probably damaging	Het
Tekt4	C	T	17: 25,690,901 (GRCm39)	A69V	possibly damaging	Het
Tmigd1	T	A	11: 76,804,878 (GRCm39)	F239Y	probably benign	Het
Tpp1	T	A	7: 105,400,846 (GRCm39)	R60S	probably benign	Het
Trank1	A	T	9: 111,196,268 (GRCm39)	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,797,519 (GRCm39)	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,568,396 (GRCm39)	S300P	probably damaging	Het
Urah	T	A	7: 140,417,587 (GRCm39)	L119Q	unknown	Het
Uspl1	T	A	5: 149,141,148 (GRCm39)	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,975,574 (GRCm39)	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,640,933 (GRCm39)	V88I	probably benign	Het
Zfp444	T	C	7: 6,191,157 (GRCm39)	S113P	probably damaging	Het
Zfp580	T	G	7: 5,056,152 (GRCm39)	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,577,382 (GRCm39)	I151V	probably benign	Het
Zfp827	T	C	8: 79,818,564 (GRCm39)	F614S	probably damaging	Het
Zic4	A	T	9: 91,260,913 (GRCm39)	Q56L	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
R7320:Gart	UTSW	16	91,418,569 (GRCm39)	missense	probably benign	0.00
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
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'- GCAATGACTTAAAACGGAACTAGC -3'
(R):5'- GCCTGCTCTACATAGTAAAGACC -3'

Sequencing Primer
(F):5'- AACTAGCCGAGTTTCCTCCCAG -3'
(R):5'- TGCTCTACATAGTAAAGACCCTGTC -3'

Posted On

2022-02-07