Mutagenetix > Incidental Mutation

Incidental Mutation 'R8103:Pfas'

630594

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68985697-69008460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68992293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 722 (T722A)

Ref Sequence

ENSEMBL: ENSMUSP00000021282 (fasta)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021282
AA Change: T722A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: T722A

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: 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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.4%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,834	D216G	probably benign	Het
4930430F08Rik	C	A	10: 100,577,248	V178F	probably benign	Het
9030624J02Rik	T	C	7: 118,743,632	S47P	probably benign	Het
Abcg5	A	T	17: 84,658,528	I640K	possibly damaging	Het
Acadvl	T	C	11: 70,014,342	K128R	probably benign	Het
Angptl7	T	A	4: 148,496,561	N259I	probably damaging	Het
Ankrd35	A	G	3: 96,679,681	K104R	possibly damaging	Het
Antxr1	T	C	6: 87,188,216	N413S	probably damaging	Het
Arhgap26	A	G	18: 39,371,124	T376A		Het
Atf6b	T	G	17: 34,653,975	S622A	probably damaging	Het
Atp5h	T	A	11: 115,416,025	Y115F	possibly damaging	Het
Axin2	T	C	11: 108,931,543	L307P	probably damaging	Het
B4galnt4	C	T	7: 141,064,651	T153M	possibly damaging	Het
Brd8	A	G	18: 34,607,178	V604A	probably benign	Het
Ccser2	T	C	14: 36,896,283	Y765C	probably damaging	Het
Cdh26	A	G	2: 178,468,213	D433G	probably damaging	Het
Cep85l	T	G	10: 53,299,324		probably null	Het
Col23a1	T	A	11: 51,570,187		probably null	Het
Col7a1	A	G	9: 108,975,384	D2261G	unknown	Het
Comp	C	A	8: 70,381,286	N650K	probably damaging	Het
Copb1	A	G	7: 114,234,967	M476T	possibly damaging	Het
Dapk1	T	A	13: 60,749,195	S743T	probably damaging	Het
Ddx39	A	G	8: 83,724,476		probably null	Het
Dgkb	A	G	12: 38,136,581	H243R	probably damaging	Het
Dsg1c	T	G	18: 20,283,114	Y691D	probably damaging	Het
Duox2	C	T	2: 122,287,054	S933N	probably benign	Het
Ece1	T	C	4: 137,913,822	S19P	probably benign	Het
Edem1	G	A	6: 108,852,563	E548K	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,577	V174A	possibly damaging	Het
Fyco1	A	T	9: 123,829,388	N574K	probably benign	Het
Glb1l2	T	A	9: 26,765,684	M551L	probably benign	Het
Gm3376	C	T	Y: 3,776,675	T104I	possibly damaging	Het
Gm5580	C	T	6: 116,551,507	T115I	probably damaging	Het
Gm7694	G	T	1: 170,302,715	P38Q	probably damaging	Het
Grip1	A	G	10: 119,978,535	T324A	probably benign	Het
Htr3b	A	G	9: 48,946,549	V131A	possibly damaging	Het
Igfbp1	T	C	11: 7,198,106	C50R	probably damaging	Het
Il5ra	A	G	6: 106,715,650	I378T	possibly damaging	Het
Ints11	T	C	4: 155,888,230	L504P	possibly damaging	Het
Iqca	A	T	1: 90,059,608	I74N		Het
Kbtbd12	C	T	6: 88,618,681	A56T	probably damaging	Het
Kcnq5	T	C	1: 21,479,396	N369S	possibly damaging	Het
Kmt5b	A	G	19: 3,815,381	D815G	probably benign	Het
Lnpk	T	C	2: 74,522,255	Q361R	probably benign	Het
Mep1b	T	C	18: 21,089,385	I277T	possibly damaging	Het
Naip6	G	A	13: 100,301,343	T385I	probably benign	Het
Narfl	A	G	17: 25,777,421	T135A	probably benign	Het
Npepl1	A	T	2: 174,111,209	I95F	probably benign	Het
Nxpe4	T	C	9: 48,392,720	F36L	probably benign	Het
Olfr129	A	T	17: 38,055,012	C185S	probably damaging	Het
Olfr393	C	T	11: 73,847,909	C72Y	probably damaging	Het
Optn	C	A	2: 5,040,202	C243F	probably damaging	Het
Paqr7	T	C	4: 134,507,510	V226A	probably benign	Het
Pcdh12	T	A	18: 38,282,159	I638F	probably damaging	Het
Pkhd1	T	A	1: 20,200,757	I3191F	probably damaging	Het
Plxnc1	T	A	10: 94,871,082	H531L	probably benign	Het
Pom121l2	A	G	13: 21,982,374	T272A	probably benign	Het
Pparg	T	C	6: 115,473,141	V367A	possibly damaging	Het
Psen2	A	T	1: 180,240,791	M99K	probably damaging	Het
Ranbp10	T	C	8: 105,772,547	T536A	probably benign	Het
Rbfox2	G	T	15: 77,099,454	P284T	probably damaging	Het
Rere	G	A	4: 150,617,339	R25H	probably damaging	Het
Rhpn1	T	A	15: 75,709,266	L119Q	probably null	Het
Rreb1	A	G	13: 37,941,701	T1328A	probably benign	Het
Sept11	A	T	5: 93,161,148		probably null	Het
Skida1	T	A	2: 18,047,738	Q201L	probably benign	Het
Sptan1	T	A	2: 30,020,043	I1805N	probably damaging	Het
Stard13	T	A	5: 151,046,970	Q853L	possibly damaging	Het
Susd1	T	A	4: 59,365,916		probably null	Het
Szt2	T	A	4: 118,387,864	Q1158H	possibly damaging	Het
Tbcc	A	C	17: 46,891,120	D144A	probably benign	Het
Tsn	A	G	1: 118,304,707	I146T	probably benign	Het
Umad1	A	T	6: 8,427,121	T99S	probably damaging	Het
Vcan	T	A	13: 89,657,658	E3261V	probably damaging	Het
Vcan	C	A	13: 89,703,320	E1174*	probably null	Het
Vmn2r100	C	A	17: 19,531,153		probably null	Het
Vmn2r65	A	G	7: 84,946,711	I255T	probably damaging	Het
Wdr70	A	G	15: 7,977,131	L313P	possibly damaging	Het
Ythdf2	C	A	4: 132,204,778	R357L	probably damaging	Het
Zfp523	T	C	17: 28,201,293	C262R	probably damaging	Het
Zfp553	T	C	7: 127,236,764	V497A	probably benign	Het
Zhx1	A	G	15: 58,053,266	L528S	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
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
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'- GGAGCTTATGTGCCAAAAGC -3'
(R):5'- TTCAGTTCAGAGGATACCCACC -3'

Sequencing Primer
(F):5'- GCCAAAAGCAATGGGAAAGAG -3'
(R):5'- TTCAGAGGATACCCACCCCTCTG -3'

Posted On

2020-06-30