Mutagenetix > Incidental Mutation

Incidental Mutation 'R1959:Pfas'

218188

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

MMRRC Submission

039973-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1959 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

68876527-68899286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68885110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 16 (G16R)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021282
AA Change: G462R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: G462R

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 damaging
Transcript: ENSMUST00000149703
AA Change: G16R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133984
Gene: ENSMUSG00000020899
AA Change: G16R

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Aco1	T	C	4: 40,167,193 (GRCm39)		probably null	Het
Adap1	A	G	5: 139,259,096 (GRCm39)	Y364H	probably benign	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgb	A	T	10: 10,270,993 (GRCm39)	D883E	probably benign	Het
Anapc1	C	A	2: 128,475,335 (GRCm39)	R1381S	probably benign	Het
Aoah	A	G	13: 20,978,564 (GRCm39)	M1V	probably null	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arhgap10	A	G	8: 78,136,255 (GRCm39)	F319S	possibly damaging	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cabin1	A	T	10: 75,570,924 (GRCm39)	V784E	possibly damaging	Het
Card9	T	A	2: 26,244,885 (GRCm39)		probably null	Het
Cdk18	A	G	1: 132,045,559 (GRCm39)	I238T	possibly damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Commd3	A	T	2: 18,678,774 (GRCm39)	I70F	probably benign	Het
Cspg5	G	A	9: 110,080,094 (GRCm39)	V340M	probably damaging	Het
Cyb5r4	G	A	9: 86,937,902 (GRCm39)	S307N	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Ddx11	A	G	17: 66,437,723 (GRCm39)	M150V	probably benign	Het
Dennd4b	A	G	3: 90,176,080 (GRCm39)	Y190C	probably damaging	Het
Det1	A	G	7: 78,493,191 (GRCm39)	V271A	probably benign	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dhx36	T	C	3: 62,386,806 (GRCm39)	S649G	probably benign	Het
Dlgap5	A	G	14: 47,653,843 (GRCm39)	I62T	possibly damaging	Het
Dmgdh	A	G	13: 93,857,067 (GRCm39)	M724V	probably benign	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dock4	A	T	12: 40,760,797 (GRCm39)	K495M	probably damaging	Het
Dse	A	G	10: 34,036,202 (GRCm39)	Y225H	probably damaging	Het
Emx1	G	A	6: 85,180,916 (GRCm39)	R211K	probably damaging	Het
Ergic2	A	G	6: 148,100,852 (GRCm39)		probably null	Het
Fbxo27	G	A	7: 28,397,797 (GRCm39)	C277Y	possibly damaging	Het
Fcrl1	T	C	3: 87,283,827 (GRCm39)	I9T	possibly damaging	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Flnb	C	T	14: 7,884,735 (GRCm38)	Q445*	probably null	Het
Flrt2	G	A	12: 95,747,074 (GRCm39)	V471I	probably benign	Het
Frmd4a	G	A	2: 4,539,997 (GRCm39)	V210M	probably damaging	Het
Fsip2	A	G	2: 82,821,894 (GRCm39)	K5876E	probably benign	Het
Galnt10	T	C	11: 57,656,443 (GRCm39)	L209P	probably damaging	Het
Gata5	A	T	2: 179,968,729 (GRCm39)	S382T	possibly damaging	Het
Glt6d1	C	A	2: 25,684,425 (GRCm39)	V194L	probably damaging	Het
Gm10803	T	G	2: 93,394,288 (GRCm39)	V20G	unknown	Het
Gm44511	T	G	6: 128,797,234 (GRCm39)	T52P	probably damaging	Het
Gpat4	A	T	8: 23,672,952 (GRCm39)	L88Q	possibly damaging	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Hivep2	A	T	10: 14,008,453 (GRCm39)	I1684F	probably benign	Het
Hmcn1	T	C	1: 150,525,427 (GRCm39)	T3366A	probably benign	Het
Hnmt	A	G	2: 23,893,894 (GRCm39)	V200A	possibly damaging	Het
Hps6	A	T	19: 45,992,774 (GRCm39)	H237L	probably benign	Het
Hspg2	C	T	4: 137,292,206 (GRCm39)	P4033S	probably damaging	Het
Ift70b	C	T	2: 75,767,443 (GRCm39)	E437K	probably benign	Het
Irf9	T	A	14: 55,845,174 (GRCm39)	S297T	possibly damaging	Het
Kdm3b	T	C	18: 34,945,448 (GRCm39)	V753A	possibly damaging	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Krtap4-16	A	G	11: 99,742,373 (GRCm39)	V9A	unknown	Het
Lama2	G	T	10: 27,298,614 (GRCm39)	P161T	probably damaging	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Lvrn	T	A	18: 47,027,784 (GRCm39)	S866R	probably damaging	Het
Med13	A	G	11: 86,189,805 (GRCm39)	Y1035H	probably damaging	Het
Mertk	T	A	2: 128,601,010 (GRCm39)	N331K	probably damaging	Het
Mios	T	A	6: 8,215,437 (GRCm39)	F211Y	probably benign	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mphosph9	A	T	5: 124,453,764 (GRCm39)	S183T	possibly damaging	Het
Mrto4	A	T	4: 139,076,949 (GRCm39)	I56N	probably damaging	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Ncoa2	A	G	1: 13,230,476 (GRCm39)	Y1023H	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,504,026 (GRCm39)		probably benign	Het
Nr2f1	T	C	13: 78,337,935 (GRCm39)	T237A	probably damaging	Het
Nup205	C	A	6: 35,210,301 (GRCm39)	Q1621K	probably benign	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Nxpe2	T	A	9: 48,231,026 (GRCm39)	S448C	probably benign	Het
Ogdh	T	A	11: 6,296,638 (GRCm39)	C498S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or14a256	A	T	7: 86,265,639 (GRCm39)	F71L	probably benign	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or2d2	A	T	7: 106,727,717 (GRCm39)	D294E	possibly damaging	Het
Or5ak24	T	C	2: 85,260,963 (GRCm39)	D70G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6p1	A	T	1: 174,258,471 (GRCm39)	K159M	probably damaging	Het
Or8s8	T	C	15: 98,354,634 (GRCm39)	S148P	probably damaging	Het
Pcdhb9	T	A	18: 37,536,369 (GRCm39)	Y788N	probably damaging	Het
Pcsk5	T	C	19: 17,410,782 (GRCm39)	D1870G	unknown	Het
Pde6g	A	G	11: 120,338,962 (GRCm39)	L76P	probably damaging	Het
Peak1	A	T	9: 56,114,073 (GRCm39)	Y593N	probably damaging	Het
Pkd1l2	A	T	8: 117,769,970 (GRCm39)		probably null	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Ptpru	T	A	4: 131,530,788 (GRCm39)	I489F	probably damaging	Het
Rere	T	G	4: 150,553,247 (GRCm39)	H146Q	probably benign	Het
Rundc1	A	T	11: 101,322,322 (GRCm39)	Q272L	probably damaging	Het
Scml4	T	C	10: 42,832,017 (GRCm39)	L305P	probably damaging	Het
Sec16a	A	T	2: 26,320,144 (GRCm39)	H1431Q	probably benign	Het
Serpina1a	G	A	12: 103,820,059 (GRCm39)	Q373*	probably null	Het
Shank1	A	T	7: 43,974,801 (GRCm39)	N377I	unknown	Het
Shc2	T	C	10: 79,462,625 (GRCm39)		probably null	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc7a2	A	T	8: 41,368,002 (GRCm39)	I589F	probably damaging	Het
Smim8	C	T	4: 34,771,316 (GRCm39)	R26Q	probably damaging	Het
Smox	C	A	2: 131,362,384 (GRCm39)	A221D	probably damaging	Het
Sox5	A	G	6: 143,819,831 (GRCm39)	S62P	possibly damaging	Het
Spg21	A	C	9: 65,391,774 (GRCm39)	K240N	probably damaging	Het
Sv2c	C	T	13: 96,113,153 (GRCm39)	V599M	probably damaging	Het
Tanc2	T	A	11: 105,801,121 (GRCm39)	H1112Q	probably damaging	Het
Tbata	T	C	10: 61,011,623 (GRCm39)	I58T	possibly damaging	Het
Tbc1d2	T	G	4: 46,606,419 (GRCm39)	Y842S	probably benign	Het
Tctn1	A	T	5: 122,379,903 (GRCm39)		probably null	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Tfcp2l1	T	C	1: 118,597,119 (GRCm39)	V400A	probably benign	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Top2a	T	C	11: 98,886,803 (GRCm39)		probably null	Het
Traf7	C	A	17: 24,732,255 (GRCm39)	G191C	probably damaging	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttn	T	C	2: 76,580,967 (GRCm39)	I23309V	probably benign	Het
Usp50	T	C	2: 126,619,881 (GRCm39)	K199E	possibly damaging	Het
Vmn1r218	T	C	13: 23,320,683 (GRCm39)	F10S	probably damaging	Het
Vmn2r89	C	A	14: 51,694,897 (GRCm39)	T459K	probably benign	Het
Vps13a	T	G	19: 16,655,302 (GRCm39)	S1909R	possibly damaging	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Vwa8	A	G	14: 79,219,800 (GRCm39)	H516R	possibly damaging	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	probably damaging	Het
Zfat	G	C	15: 68,018,392 (GRCm39)	P974R	probably benign	Het
Zfc3h1	T	A	10: 115,259,158 (GRCm39)	I1601K	probably benign	Het
Zfp239	A	G	6: 117,848,778 (GRCm39)	K172R	probably benign	Het
Zfp335	C	T	2: 164,736,722 (GRCm39)	G971D	probably damaging	Het
Zfp532	A	T	18: 65,757,563 (GRCm39)	I499F	probably damaging	Het
Zfp647	T	C	15: 76,795,314 (GRCm39)	T449A	possibly damaging	Het
Zfp938	C	T	10: 82,061,465 (GRCm39)	G385D	probably damaging	Het
Zfp959	T	G	17: 56,204,404 (GRCm39)	V147G	probably damaging	Het
Znfx1	A	T	2: 166,892,270 (GRCm39)	C649S	probably damaging	Het

Other mutations in Pfas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Pfas	APN	11	68,894,640 (GRCm39)	nonsense	probably null
IGL01287:Pfas	APN	11	68,892,086 (GRCm39)	missense	probably benign	0.09
IGL01712:Pfas	APN	11	68,881,886 (GRCm39)	missense	probably benign	0.34
IGL02019:Pfas	APN	11	68,884,289 (GRCm39)	unclassified	probably benign
IGL02053:Pfas	APN	11	68,883,779 (GRCm39)	missense	probably damaging	1.00
IGL02718:Pfas	APN	11	68,890,971 (GRCm39)	splice site	probably benign
IGL02801:Pfas	APN	11	68,879,103 (GRCm39)	unclassified	probably benign
Surf	UTSW	11	68,878,847 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Pfas	UTSW	11	68,880,862 (GRCm39)	missense
R0037:Pfas	UTSW	11	68,890,862 (GRCm39)	missense	probably damaging	1.00
R0046:Pfas	UTSW	11	68,881,293 (GRCm39)	missense	probably benign
R0046:Pfas	UTSW	11	68,881,293 (GRCm39)	missense	probably benign
R0408:Pfas	UTSW	11	68,891,931 (GRCm39)	critical splice donor site	probably null
R0532:Pfas	UTSW	11	68,893,455 (GRCm39)	splice site	probably benign
R0707:Pfas	UTSW	11	68,888,863 (GRCm39)	missense	probably benign	0.00
R0783:Pfas	UTSW	11	68,891,347 (GRCm39)	missense	probably damaging	1.00
R0946:Pfas	UTSW	11	68,881,573 (GRCm39)	splice site	probably null
R0946:Pfas	UTSW	11	68,884,121 (GRCm39)	critical splice donor site	probably null
R1470:Pfas	UTSW	11	68,882,185 (GRCm39)	missense	probably benign
R1470:Pfas	UTSW	11	68,882,185 (GRCm39)	missense	probably benign
R1507:Pfas	UTSW	11	68,880,860 (GRCm39)	missense	probably benign	0.06
R1699:Pfas	UTSW	11	68,888,872 (GRCm39)	critical splice acceptor site	probably null
R1870:Pfas	UTSW	11	68,882,795 (GRCm39)	missense	probably damaging	1.00
R1871:Pfas	UTSW	11	68,882,795 (GRCm39)	missense	probably damaging	1.00
R2026:Pfas	UTSW	11	68,884,783 (GRCm39)	missense	probably damaging	1.00
R2180:Pfas	UTSW	11	68,883,013 (GRCm39)	missense	possibly damaging	0.92
R3808:Pfas	UTSW	11	68,880,779 (GRCm39)	intron	probably benign
R3809:Pfas	UTSW	11	68,880,779 (GRCm39)	intron	probably benign
R3872:Pfas	UTSW	11	68,891,089 (GRCm39)	missense	probably damaging	1.00
R3906:Pfas	UTSW	11	68,879,112 (GRCm39)	unclassified	probably benign
R4092:Pfas	UTSW	11	68,884,775 (GRCm39)	missense	probably benign
R4437:Pfas	UTSW	11	68,879,243 (GRCm39)	missense	probably damaging	1.00
R4599:Pfas	UTSW	11	68,881,895 (GRCm39)	missense	probably benign	0.15
R4763:Pfas	UTSW	11	68,881,020 (GRCm39)	missense	possibly damaging	0.81
R5116:Pfas	UTSW	11	68,881,816 (GRCm39)	intron	probably benign
R5310:Pfas	UTSW	11	68,878,847 (GRCm39)	missense	probably damaging	1.00
R5328:Pfas	UTSW	11	68,879,418 (GRCm39)	missense	probably damaging	1.00
R5351:Pfas	UTSW	11	68,882,217 (GRCm39)	missense	probably damaging	1.00
R5427:Pfas	UTSW	11	68,891,979 (GRCm39)	missense	possibly damaging	0.90
R5533:Pfas	UTSW	11	68,882,296 (GRCm39)	missense	probably benign	0.02
R5602:Pfas	UTSW	11	68,881,871 (GRCm39)	missense	probably benign	0.05
R5637:Pfas	UTSW	11	68,884,149 (GRCm39)	missense	probably damaging	1.00
R5645:Pfas	UTSW	11	68,881,958 (GRCm39)	missense	probably damaging	1.00
R6149:Pfas	UTSW	11	68,882,771 (GRCm39)	missense	probably benign	0.07
R6295:Pfas	UTSW	11	68,888,825 (GRCm39)	missense	probably benign	0.36
R6305:Pfas	UTSW	11	68,892,023 (GRCm39)	missense	possibly damaging	0.51
R6387:Pfas	UTSW	11	68,891,291 (GRCm39)	missense	probably damaging	1.00
R6425:Pfas	UTSW	11	68,881,897 (GRCm39)	missense	probably benign	0.17
R6523:Pfas	UTSW	11	68,881,283 (GRCm39)	missense	probably benign
R6914:Pfas	UTSW	11	68,883,007 (GRCm39)	missense	probably benign	0.01
R6915:Pfas	UTSW	11	68,883,007 (GRCm39)	missense	probably benign	0.01
R6945:Pfas	UTSW	11	68,891,356 (GRCm39)	missense	probably benign
R6957:Pfas	UTSW	11	68,884,709 (GRCm39)	missense	probably benign	0.14
R7025:Pfas	UTSW	11	68,881,586 (GRCm39)	missense	probably benign	0.01
R7257:Pfas	UTSW	11	68,883,785 (GRCm39)	missense	probably damaging	1.00
R7386:Pfas	UTSW	11	68,894,600 (GRCm39)	missense	probably benign
R7424:Pfas	UTSW	11	68,890,918 (GRCm39)	missense	probably damaging	1.00
R7459:Pfas	UTSW	11	68,879,481 (GRCm39)	missense
R7593:Pfas	UTSW	11	68,881,921 (GRCm39)	missense
R7731:Pfas	UTSW	11	68,890,871 (GRCm39)	missense	probably damaging	1.00
R8103:Pfas	UTSW	11	68,883,119 (GRCm39)	missense	probably damaging	0.98
R8248:Pfas	UTSW	11	68,891,089 (GRCm39)	missense	probably damaging	1.00
R8804:Pfas	UTSW	11	68,881,908 (GRCm39)	missense
R8853:Pfas	UTSW	11	68,883,744 (GRCm39)	missense	probably damaging	1.00
R9032:Pfas	UTSW	11	68,879,421 (GRCm39)	missense
R9050:Pfas	UTSW	11	68,882,567 (GRCm39)	missense	probably benign	0.01
R9283:Pfas	UTSW	11	68,884,708 (GRCm39)	missense	probably damaging	1.00
R9644:Pfas	UTSW	11	68,883,542 (GRCm39)	missense	probably benign	0.23
Z1176:Pfas	UTSW	11	68,893,313 (GRCm39)	missense	probably damaging	1.00
Z1176:Pfas	UTSW	11	68,880,896 (GRCm39)	missense
Z1177:Pfas	UTSW	11	68,893,319 (GRCm39)	nonsense	probably null
Z1177:Pfas	UTSW	11	68,881,051 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTCATAGGAAAGGTGGCTG -3'
(R):5'- TCCCCATTAGAGAATAGATGTGTTG -3'

Sequencing Primer
(F):5'- TATTTCATGTGAGTACATTGTCACTC -3'
(R):5'- AGCAGCCAGTGTTCTTAAGC -3'

Posted On

2014-08-01