Mutagenetix > Incidental Mutation

Incidental Mutation 'R3809:Pfas'

275118

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

MMRRC Submission

040766-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3809 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

68985697-69008460 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 68989953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021282] [ENSMUST00000021282] [ENSMUST00000021282]

AlphaFold

Q5SUR0

Predicted Effect

probably benign
Transcript: ENSMUST00000021282

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899

Domain	Start	End	E-Value	Type
Pfam:AIRS_C	444	603	1.7e-21	PFAM
low complexity region	615	632	N/A	INTRINSIC
low complexity region	786	798	N/A	INTRINSIC
Pfam:AIRS_C	853	988	3e-11	PFAM
GATase_5	1061	1332	8.38e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021282

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899

Domain	Start	End	E-Value	Type
Pfam:AIRS_C	444	603	1.7e-21	PFAM
low complexity region	615	632	N/A	INTRINSIC
low complexity region	786	798	N/A	INTRINSIC
Pfam:AIRS_C	853	988	3e-11	PFAM
GATase_5	1061	1332	8.38e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021282

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899

Domain	Start	End	E-Value	Type
Pfam:AIRS_C	444	603	1.7e-21	PFAM
low complexity region	615	632	N/A	INTRINSIC
low complexity region	786	798	N/A	INTRINSIC
Pfam:AIRS_C	853	988	3e-11	PFAM
GATase_5	1061	1332	8.38e-133	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146490

Predicted Effect

probably benign
Transcript: ENSMUST00000149703

SMART Domains

Protein: ENSMUSP00000133984
Gene: ENSMUSG00000020899

Domain	Start	End	E-Value	Type
Pfam:AIRS_C	3	110	4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152964

SMART Domains

Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899

Domain	Start	End	E-Value	Type
Pfam:AIRS_C	2	94	1.6e-12	PFAM
GATase_5	166	468	6.88e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152964

SMART Domains

Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899

Domain	Start	End	E-Value	Type
Pfam:AIRS_C	2	94	1.6e-12	PFAM
GATase_5	166	468	6.88e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152964

SMART Domains

Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899

Domain	Start	End	E-Value	Type
Pfam:AIRS_C	2	94	1.6e-12	PFAM
GATase_5	166	468	6.88e-120	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174986

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,663,693	Y105C	possibly damaging	Het
Apol7e	A	T	15: 77,718,062	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057	N561K	probably benign	Het
Armc3	G	T	2: 19,300,665	A757S	probably damaging	Het
Baz2b	A	T	2: 59,968,896	S295T	probably benign	Het
Brd4	T	A	17: 32,211,270	K686N	possibly damaging	Het
Btnl6	T	C	17: 34,508,228	T443A	probably benign	Het
Cacna1g	T	C	11: 94,416,096	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,403,239	T1509I	possibly damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Cog1	G	T	11: 113,655,010	M370I	probably benign	Het
Col6a6	C	G	9: 105,780,692	V774L	probably damaging	Het
Csf1r	T	A	18: 61,112,764	S264R	probably benign	Het
Ctnna2	A	T	6: 76,954,757	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,191,168	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,323,729	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,826,751	L161Q	probably damaging	Het
Hdac1	A	G	4: 129,524,320	F94S	probably damaging	Het
Hlf	T	C	11: 90,388,103	D45G	probably benign	Het
Hps3	A	T	3: 20,018,812	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,176,554	Y79H	probably damaging	Het
Ip6k1	T	A	9: 108,045,887	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,501,878	S29P	probably benign	Het
Itga11	A	G	9: 62,771,382	T944A	probably benign	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,409,138	R195G	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Neb	A	G	2: 52,256,789	I2821T	possibly damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573	V9A	probably benign	Het
Olfr447	A	T	6: 42,912,337	K271N	probably damaging	Het
Olfr657	A	T	7: 104,636,333	I220L	possibly damaging	Het
Olfr918	C	T	9: 38,672,863	V207I	probably benign	Het
Papd7	A	G	13: 69,512,996	V51A	probably damaging	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfdn1	C	T	18: 36,451,092	G63D	probably damaging	Het
Pgghg	T	C	7: 140,945,295	F405L	probably damaging	Het
Plcd3	T	C	11: 103,101,383	M50V	probably null	Het
Plekha8	C	A	6: 54,619,349	S198R	probably benign	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rnf217	T	A	10: 31,503,808	I473F	possibly damaging	Het
Sec16a	G	C	2: 26,441,813	N63K	possibly damaging	Het
Sik3	A	G	9: 46,219,486	D1240G	probably benign	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc2a3	A	G	6: 122,732,429	I337T	probably benign	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Tinag	C	T	9: 76,951,905	D474N	probably benign	Het
Ublcp1	A	G	11: 44,458,282	F242L	probably benign	Het
Ucp1	C	A	8: 83,290,641	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,095,382	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,481,795	D45G	probably damaging	Het
Zfp592	G	A	7: 81,024,532	A415T	probably benign	Het

Other mutations in Pfas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Pfas	APN	11	69003814	nonsense	probably null
IGL01287:Pfas	APN	11	69001260	missense	probably benign	0.09
IGL01712:Pfas	APN	11	68991060	missense	probably benign	0.34
IGL02019:Pfas	APN	11	68993463	unclassified	probably benign
IGL02053:Pfas	APN	11	68992953	missense	probably damaging	1.00
IGL02718:Pfas	APN	11	69000145	splice site	probably benign
IGL02801:Pfas	APN	11	68988277	unclassified	probably benign
Surf	UTSW	11	68988021	missense	probably damaging	1.00
PIT4812001:Pfas	UTSW	11	68990036	missense
R0037:Pfas	UTSW	11	69000036	missense	probably damaging	1.00
R0046:Pfas	UTSW	11	68990467	missense	probably benign
R0046:Pfas	UTSW	11	68990467	missense	probably benign
R0408:Pfas	UTSW	11	69001105	critical splice donor site	probably null
R0532:Pfas	UTSW	11	69002629	splice site	probably benign
R0707:Pfas	UTSW	11	68998037	missense	probably benign	0.00
R0783:Pfas	UTSW	11	69000521	missense	probably damaging	1.00
R0946:Pfas	UTSW	11	68993295	critical splice donor site	probably null
R0946:Pfas	UTSW	11	68990747	splice site	probably null
R1470:Pfas	UTSW	11	68991359	missense	probably benign
R1470:Pfas	UTSW	11	68991359	missense	probably benign
R1507:Pfas	UTSW	11	68990034	missense	probably benign	0.06
R1699:Pfas	UTSW	11	68998046	critical splice acceptor site	probably null
R1870:Pfas	UTSW	11	68991969	missense	probably damaging	1.00
R1871:Pfas	UTSW	11	68991969	missense	probably damaging	1.00
R1959:Pfas	UTSW	11	68994284	missense	probably damaging	1.00
R2026:Pfas	UTSW	11	68993957	missense	probably damaging	1.00
R2180:Pfas	UTSW	11	68992187	missense	possibly damaging	0.92
R3808:Pfas	UTSW	11	68989953	intron	probably benign
R3872:Pfas	UTSW	11	69000263	missense	probably damaging	1.00
R3906:Pfas	UTSW	11	68988286	unclassified	probably benign
R4092:Pfas	UTSW	11	68993949	missense	probably benign
R4437:Pfas	UTSW	11	68988417	missense	probably damaging	1.00
R4599:Pfas	UTSW	11	68991069	missense	probably benign	0.15
R4763:Pfas	UTSW	11	68990194	missense	possibly damaging	0.81
R5116:Pfas	UTSW	11	68990990	intron	probably benign
R5310:Pfas	UTSW	11	68988021	missense	probably damaging	1.00
R5328:Pfas	UTSW	11	68988592	missense	probably damaging	1.00
R5351:Pfas	UTSW	11	68991391	missense	probably damaging	1.00
R5427:Pfas	UTSW	11	69001153	missense	possibly damaging	0.90
R5533:Pfas	UTSW	11	68991470	missense	probably benign	0.02
R5602:Pfas	UTSW	11	68991045	missense	probably benign	0.05
R5637:Pfas	UTSW	11	68993323	missense	probably damaging	1.00
R5645:Pfas	UTSW	11	68991132	missense	probably damaging	1.00
R6149:Pfas	UTSW	11	68991945	missense	probably benign	0.07
R6295:Pfas	UTSW	11	68997999	missense	probably benign	0.36
R6305:Pfas	UTSW	11	69001197	missense	possibly damaging	0.51
R6387:Pfas	UTSW	11	69000465	missense	probably damaging	1.00
R6425:Pfas	UTSW	11	68991071	missense	probably benign	0.17
R6523:Pfas	UTSW	11	68990457	missense	probably benign
R6914:Pfas	UTSW	11	68992181	missense	probably benign	0.01
R6915:Pfas	UTSW	11	68992181	missense	probably benign	0.01
R6945:Pfas	UTSW	11	69000530	missense	probably benign
R6957:Pfas	UTSW	11	68993883	missense	probably benign	0.14
R7025:Pfas	UTSW	11	68990760	missense	probably benign	0.01
R7257:Pfas	UTSW	11	68992959	missense	probably damaging	1.00
R7386:Pfas	UTSW	11	69003774	missense	probably benign
R7424:Pfas	UTSW	11	69000092	missense	probably damaging	1.00
R7459:Pfas	UTSW	11	68988655	missense
R7593:Pfas	UTSW	11	68991095	missense
R7731:Pfas	UTSW	11	69000045	missense	probably damaging	1.00
R8103:Pfas	UTSW	11	68992293	missense	probably damaging	0.98
R8248:Pfas	UTSW	11	69000263	missense	probably damaging	1.00
R8804:Pfas	UTSW	11	68991082	missense
R8853:Pfas	UTSW	11	68992918	missense	probably damaging	1.00
R9032:Pfas	UTSW	11	68988595	missense
R9050:Pfas	UTSW	11	68991741	missense	probably benign	0.01
R9283:Pfas	UTSW	11	68993882	missense	probably damaging	1.00
R9644:Pfas	UTSW	11	68992716	missense	probably benign	0.23
Z1176:Pfas	UTSW	11	68990070	missense
Z1176:Pfas	UTSW	11	69002487	missense	probably damaging	1.00
Z1177:Pfas	UTSW	11	68990225	missense	probably damaging	1.00
Z1177:Pfas	UTSW	11	69002493	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTCAACTGTTCAGATGAGG -3'
(R):5'- GGTAAGCCTGGTACCTAACAGAG -3'

Sequencing Primer
(F):5'- TCAACTGTTCAGATGAGGCATGC -3'
(R):5'- CCTAACAGAGCTGGAGATCTTGATC -3'

Posted On

2015-04-02