Mutagenetix > Incidental Mutations

Incidental Mutation 'R1870:Pfas'

210672

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

MMRRC Submission

039892-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1870 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

68985697-69008460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68991969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 782 (D782G)

Ref Sequence

ENSEMBL: ENSMUSP00000021282 (fasta)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021282
AA Change: D782G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: D782G

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: ENSMUST00000122573

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

noncoding transcript
Transcript: ENSMUST00000172915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174986

Meta Mutation Damage Score

0.5892

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,418,007	E225G	probably damaging	Het
Abca13	A	T	11: 9,292,134	E1332D	probably benign	Het
Abca5	C	A	11: 110,329,217	V8L	probably benign	Het
Abcc8	C	T	7: 46,123,915	E797K	probably benign	Het
Acd	C	A	8: 105,698,407		probably null	Het
Adamts12	T	C	15: 11,311,154	S1166P	probably benign	Het
AI481877	G	A	4: 59,054,142		probably benign	Het
Alox12b	T	C	11: 69,158,373	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,030,438	S38T	probably damaging	Het
Aox1	A	G	1: 58,076,103	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,107,091	C344S	possibly damaging	Het
BC055324	G	A	1: 163,964,794	L545F	probably damaging	Het
Bcan	T	C	3: 87,995,601	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,833,675	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,805,748	D224A	probably damaging	Het
Ccar2	A	G	14: 70,140,497	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,220,837	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,259,904	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,683,470	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,778,199	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 87,040,409	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,302,702	I253N	probably benign	Het
Dennd4a	C	T	9: 64,897,234	A1285V	probably benign	Het
Dlat	A	G	9: 50,637,574	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,773,347	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,713	Y2148*	probably null	Het
Dnase2a	T	C	8: 84,908,763		probably benign	Het
Fam83f	T	C	15: 80,689,912		probably benign	Het
Foxi1	A	T	11: 34,207,937	N29K	possibly damaging	Het
Galk2	T	C	2: 125,975,263	L324P	probably benign	Het
Gdpd4	G	A	7: 97,972,955	V214I	probably benign	Het
Gfra3	C	T	18: 34,711,320	A56T	probably damaging	Het
Glyctk	A	G	9: 106,155,348	S489P	probably damaging	Het
Gm5346	A	T	8: 43,625,095	Y697*	probably null	Het
Gm884	T	C	11: 103,620,605	D179G	unknown	Het
Izumo4	A	T	10: 80,703,735	I135F	probably damaging	Het
Krt83	T	A	15: 101,487,190	T342S	probably benign	Het
L1td1	T	A	4: 98,737,477	D636E	possibly damaging	Het
Letm2	A	G	8: 25,596,444		probably benign	Het
Lpin1	A	G	12: 16,541,743	F828L	probably damaging	Het
Mdn1	T	A	4: 32,763,339	D5146E	probably damaging	Het
Megf10	T	A	18: 57,191,185	Y99*	probably null	Het
Men1	A	G	19: 6,337,630	D285G	probably damaging	Het
Mertk	T	G	2: 128,801,196	D838E	probably benign	Het
Mta1	T	C	12: 113,128,074	S266P	possibly damaging	Het
Mta3	G	A	17: 83,781,968	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,384,820	Q445*	probably null	Het
Olfr164	A	T	16: 19,286,607	N45K	probably damaging	Het
Olfr558	T	C	7: 102,709,754	I165T	possibly damaging	Het
Olfr885	A	T	9: 38,061,350	K10I	probably benign	Het
Olfr974	T	G	9: 39,942,821	I187R	probably damaging	Het
Pbrm1	T	A	14: 31,106,175	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,886	T297K	probably damaging	Het
Pik3c3	T	C	18: 30,293,132		probably null	Het
Pira2	T	C	7: 3,844,453	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,816,431	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,962,985	I439V	probably benign	Het
Pold4	T	A	19: 4,232,539	Y58*	probably null	Het
Ppef2	T	G	5: 92,250,512	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,677,032	I2026F	possibly damaging	Het
Rest	T	A	5: 77,268,362	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,899,353	V409A	probably benign	Het
Rnpc3	T	C	3: 113,611,055		probably benign	Het
S100a10	A	T	3: 93,561,070	E36V	probably benign	Het
S1pr3	A	C	13: 51,419,916	K378Q	probably benign	Het
Scaper	T	A	9: 55,685,938	I472F	probably damaging	Het
Sgcg	G	A	14: 61,240,447		probably benign	Het
Shank1	A	T	7: 44,342,115	R69*	probably null	Het
Siglecf	A	G	7: 43,355,543	N399S	probably benign	Het
Slc25a54	T	A	3: 109,080,616	Y24*	probably null	Het
Slc29a4	T	C	5: 142,721,488	*529R	probably null	Het
Slc41a2	G	A	10: 83,301,165	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509		probably null	Het
Slfn9	G	T	11: 82,981,576	T778N	probably benign	Het
Ssr2	T	C	3: 88,576,642		probably benign	Het
Tecrl	T	A	5: 83,354,859	T33S	probably benign	Het
Tnfrsf9	T	A	4: 150,934,347	C158*	probably null	Het
Tradd	T	C	8: 105,259,160	E253G	possibly damaging	Het
Usp34	A	G	11: 23,364,479	H807R	probably benign	Het
Vmn2r27	T	C	6: 124,224,211	I262M	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Vps13a	A	G	19: 16,759,952	V91A	probably damaging	Het
Vwf	C	T	6: 125,642,939	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,861,945	G763D	probably damaging	Het
Zfp526	T	G	7: 25,225,169	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,883,849	F1733L	possibly damaging	Het
Zfp90	A	G	8: 106,419,123	H29R	probably benign	Het
Zkscan4	A	G	13: 21,483,934	E185G	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
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
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'- AGTGACCCTACCGAGCAAAG -3'
(R):5'- TGTTTGCTCTGGTCACCGAC -3'

Sequencing Primer
(F):5'- TAAGACCAAGTGAGGTAGCAGCC -3'
(R):5'- ACCTCCGAGTGAGTCCTC -3'

Posted On

2014-06-30