Mutagenetix > Incidental Mutation

Incidental Mutation 'R0946:Pfas'

262378

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

MMRRC Submission

039085-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68985697-69008460 bp(-) (GRCm38)

Type of Mutation

splice site (2235 bp from exon)

DNA Base Change (assembly)

G to T at 68990747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

silent
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

silent
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 null
Transcript: ENSMUST00000149703

SMART Domains

Protein: ENSMUSP00000133984
Gene: ENSMUSG00000020899

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

Predicted Effect

silent
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

silent
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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,165,696	N122K	possibly damaging	Het
9230112D13Rik	A	G	14: 34,512,142	M64T	unknown	Het
Adamts15	C	T	9: 30,902,197	G891R	probably damaging	Het
Adck5	G	A	15: 76,593,286	V107I	possibly damaging	Het
Aoc3	G	A	11: 101,332,305	V456M	possibly damaging	Het
Apbb1	A	T	7: 105,573,855	L183Q	probably benign	Het
BC049730	A	G	7: 24,713,742	K162R	probably benign	Het
Camsap3	A	G	8: 3,604,442	H693R	probably benign	Het
Ccdc88a	A	G	11: 29,456,509	T414A	probably benign	Het
Cdh17	T	C	4: 11,795,581	V387A	probably benign	Het
Coasy	G	T	11: 101,085,870	V489F	probably damaging	Het
Ercc6	A	T	14: 32,552,621	M574L	probably benign	Het
Esrrb	T	C	12: 86,505,824	L180P	probably damaging	Het
Fam83b	A	T	9: 76,491,397	V808D	probably damaging	Het
Fat3	C	T	9: 15,997,804	V2301I	possibly damaging	Het
Gm813	C	A	16: 58,614,712	R83S	probably damaging	Het
Gm9573	A	C	17: 35,618,213	S1581A	probably benign	Het
Hyal4	T	A	6: 24,755,913	Y43*	probably null	Het
Hydin	C	A	8: 110,531,053	L2372M	probably benign	Het
Lrrc4c	T	C	2: 97,629,464	V145A	probably benign	Het
Myh4	A	G	11: 67,251,751	I913V	possibly damaging	Het
Nat10	C	T	2: 103,731,374	G654D	probably damaging	Het
Nbn	A	T	4: 15,970,719		probably null	Het
Oas3	T	C	5: 120,769,063	Y503C	unknown	Het
Olfr740	C	A	14: 50,453,673	T207K	probably benign	Het
Pappa	G	T	4: 65,314,792		probably null	Het
Pign	A	T	1: 105,591,697	M500K	probably benign	Het
Pkhd1	T	C	1: 20,199,381	K3313R	probably benign	Het
Ptk2b	A	G	14: 66,158,598	V807A	probably benign	Het
Ptpdc1	C	T	13: 48,586,810	E382K	probably damaging	Het
Rfpl4b	A	T	10: 38,820,837	I256N	probably benign	Het
Skap1	C	G	11: 96,541,469	S88*	probably null	Het
Slc4a2	T	C	5: 24,435,886	S742P	probably damaging	Het
Supv3l1	T	C	10: 62,429,820	D647G	probably damaging	Het
Tmem184c	A	C	8: 77,604,757	V121G	probably damaging	Het
Tonsl	T	C	15: 76,623,221	I118V	probably benign	Het
Top1	T	A	2: 160,712,668	Y446*	probably null	Het
Trim37	A	G	11: 87,146,955	R172G	probably damaging	Het
Vgll4	C	A	6: 114,890,807		probably null	Het
Vgll4	T	A	6: 114,890,808		probably null	Het
Vmn1r5	T	G	6: 56,986,165	I275S	possibly damaging	Het
Vwde	A	T	6: 13,187,875	H584Q	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp282	T	A	6: 47,880,009	W59R	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zswim2	T	A	2: 83,923,759	T186S	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
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
R3809: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

Posted On

2015-02-04