Mutagenetix > Incidental Mutation

Incidental Mutation 'R7593:Pfas'

587557

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68876527-68899286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68881921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 25 (M25I)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021282
AA Change: M921I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: M921I

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

SMART Domains

Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899
AA Change: M25I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,774 (GRCm39)	A170V	probably damaging	Het
Acp6	A	T	3: 97,073,266 (GRCm39)	E102D	probably benign	Het
Acss1	T	A	2: 150,461,688 (GRCm39)	R632*	probably null	Het
Adamtsl1	G	T	4: 86,259,450 (GRCm39)	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,487,095 (GRCm39)	Y91*	probably null	Het
Arhgap35	A	T	7: 16,298,786 (GRCm39)	I93N	probably damaging	Het
Asic2	A	T	11: 81,858,657 (GRCm39)	D118E	probably benign	Het
Asprv1	G	T	6: 86,605,762 (GRCm39)	V203L	probably damaging	Het
Atad2b	G	A	12: 5,081,726 (GRCm39)	D1212N	probably benign	Het
Atp4a	A	G	7: 30,424,105 (GRCm39)	I960V	probably benign	Het
Bin1	G	T	18: 32,552,932 (GRCm39)	E186*	probably null	Het
Bmp10	A	G	6: 87,410,651 (GRCm39)	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,310,137 (GRCm39)	D246V	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,261 (GRCm39)	D81V	probably damaging	Het
Cep162	A	T	9: 87,086,250 (GRCm39)	S1025T	probably benign	Het
Cidea	A	G	18: 67,493,283 (GRCm39)	I101V	probably benign	Het
Clock	G	A	5: 76,384,145 (GRCm39)	S478L	possibly damaging	Het
Cp	T	A	3: 20,020,494 (GRCm39)	N162K	probably benign	Het
Crb1	C	T	1: 139,164,978 (GRCm39)	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 25,780,416 (GRCm39)	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,172,429 (GRCm39)	S580P	possibly damaging	Het
Dars2	T	C	1: 160,885,113 (GRCm39)	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,244,941 (GRCm39)	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,433,193 (GRCm39)	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,407,244 (GRCm39)	F432L	probably damaging	Het
Dnah10	T	C	5: 124,823,608 (GRCm39)	V543A	probably benign	Het
Eef2k	G	A	7: 120,488,491 (GRCm39)		probably null	Het
Elmo1	A	G	13: 20,474,610 (GRCm39)	M345V	probably benign	Het
Ephb4	A	G	5: 137,359,560 (GRCm39)	M377V	probably benign	Het
Erbb4	C	A	1: 68,293,758 (GRCm39)	R711L	probably damaging	Het
Fads1	A	G	19: 10,162,361 (GRCm39)	E95G	probably damaging	Het
Farsa	G	A	8: 85,594,278 (GRCm39)		probably null	Het
Galntl6	A	G	8: 58,230,293 (GRCm39)	S42P	probably damaging	Het
Gga2	G	A	7: 121,589,672 (GRCm39)	T559M	probably benign	Het
Glipr1l2	G	A	10: 111,928,465 (GRCm39)	G120D	probably damaging	Het
Gm14226	A	T	2: 154,866,114 (GRCm39)	I24L	unknown	Het
Gprc5b	G	T	7: 118,583,492 (GRCm39)	R126S	probably damaging	Het
Gys1	A	G	7: 45,092,360 (GRCm39)	D321G	probably damaging	Het
Hdlbp	C	T	1: 93,358,005 (GRCm39)	A299T	probably benign	Het
Hic2	A	G	16: 17,076,979 (GRCm39)	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,220,524 (GRCm39)	I253N	probably damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Inpp5d	T	A	1: 87,645,500 (GRCm39)	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,828,064 (GRCm39)	A1233T	probably benign	Het
Kif9	A	T	9: 110,350,421 (GRCm39)	T771S	possibly damaging	Het
Klre1	T	A	6: 129,560,150 (GRCm39)	C141S	probably damaging	Het
Lats1	A	G	10: 7,577,476 (GRCm39)	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,829,801 (GRCm39)	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,391,778 (GRCm39)	K1216E	probably benign	Het
Lrrc41	G	A	4: 115,950,141 (GRCm39)	R518H	possibly damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Mcm9	C	T	10: 53,506,088 (GRCm39)	R62H	probably benign	Het
Mmp10	T	G	9: 7,503,154 (GRCm39)	L38R	probably damaging	Het
Mroh8	A	G	2: 157,071,867 (GRCm39)	L546P	probably damaging	Het
Mtcl2	A	T	2: 156,882,776 (GRCm39)	D425E	probably benign	Het
Myt1	T	A	2: 181,439,532 (GRCm39)	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,780,901 (GRCm39)	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955 (GRCm38)	D51G	probably benign	Het
Nme5	A	G	18: 34,700,201 (GRCm39)	I148T	probably benign	Het
Nr2e1	G	A	10: 42,439,475 (GRCm39)	P348L	probably damaging	Het
Nrp2	A	G	1: 62,758,203 (GRCm39)	E63G	probably damaging	Het
Or2d2	A	T	7: 106,727,782 (GRCm39)	S273T	probably damaging	Het
Or51ab3	A	T	7: 103,200,956 (GRCm39)		probably benign	Het
Or52e3	A	G	7: 102,869,471 (GRCm39)	E182G	probably damaging	Het
Or52e5	A	G	7: 104,718,704 (GRCm39)	H10R	probably benign	Het
Or56a3	A	G	7: 104,735,372 (GRCm39)	T150A	probably benign	Het
Pak5	A	G	2: 135,942,884 (GRCm39)	S419P	probably benign	Het
Prdm9	A	G	17: 15,764,867 (GRCm39)	S638P	possibly damaging	Het
Psd	G	A	19: 46,301,352 (GRCm39)	T954I	possibly damaging	Het
Psph	T	C	5: 129,864,337 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,069,593 (GRCm39)	I1517T	probably benign	Het
Rassf8	A	G	6: 145,761,129 (GRCm39)	R152G	probably benign	Het
Rfx3	G	A	19: 27,827,139 (GRCm39)	T149I	probably benign	Het
Rfx8	A	T	1: 39,722,838 (GRCm39)	F260I	probably damaging	Het
Rnft1	C	T	11: 86,384,023 (GRCm39)	Q308*	probably null	Het
Rock2	A	G	12: 17,008,241 (GRCm39)	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305 (GRCm39)	R157G	unknown	Het
Ryr1	A	T	7: 28,735,528 (GRCm39)	N4083K	probably damaging	Het
Scd1	G	T	19: 44,388,739 (GRCm39)	T237N	probably benign	Het
Sema3d	T	C	5: 12,558,112 (GRCm39)	F215L	probably benign	Het
Sema7a	C	T	9: 57,867,858 (GRCm39)	T478I	probably benign	Het
Sftpc	T	C	14: 70,759,623 (GRCm39)	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,662,241 (GRCm39)	T139I	probably damaging	Het
Snx27	T	C	3: 94,410,272 (GRCm39)	E468G	possibly damaging	Het
Snx33	T	C	9: 56,834,058 (GRCm39)	K4E	possibly damaging	Het
Soat1	A	T	1: 156,268,148 (GRCm39)	L253*	probably null	Het
Sycp2l	A	T	13: 41,326,192 (GRCm39)	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,557,664 (GRCm39)	I47N	probably damaging	Het
Tmem82	T	A	4: 141,343,605 (GRCm39)	I222F	probably damaging	Het
Ube2o	A	T	11: 116,471,905 (GRCm39)	L112Q	possibly damaging	Het
Vmn1r204	G	A	13: 22,740,754 (GRCm39)	W128*	probably null	Het
Vmn2r114	A	T	17: 23,510,817 (GRCm39)	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,437,213 (GRCm39)	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,215,312 (GRCm39)	L74*	probably null	Het
Vmp1	T	A	11: 86,477,377 (GRCm39)	Y341F	probably benign	Het
Vps13a	A	T	19: 16,703,027 (GRCm39)	V642D	probably damaging	Het
Vps33a	T	C	5: 123,674,619 (GRCm39)	M383V	probably benign	Het
Vwf	G	A	6: 125,624,731 (GRCm39)	V1827I		Het
Zc3hav1	A	G	6: 38,306,121 (GRCm39)	Y644H	probably benign	Het
Zfp429	A	C	13: 67,538,410 (GRCm39)	C345G	probably damaging	Het
Zfp595	T	C	13: 67,464,823 (GRCm39)	H483R	probably benign	Het
Zfp748	G	T	13: 67,690,638 (GRCm39)	H207Q	probably benign	Het
Zfp758	T	C	17: 22,593,939 (GRCm39)	S142P	probably damaging	Het
Znfx1	A	C	2: 166,898,145 (GRCm39)	S260A	probably benign	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
R1959:Pfas	UTSW	11	68,885,110 (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
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'- TGCACCAGGGACTATGAGAG -3'
(R):5'- AGTGAGTGATGTGCCTTCAG -3'

Sequencing Primer
(F):5'- TCGTAGACGGCCAAAGTTC -3'
(R):5'- AGGCCAAACCCTTCTCTCC -3'

Posted On

2019-10-24