Mutagenetix > Incidental Mutation

Incidental Mutation 'R6387:Pfas'

514667

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

MMRRC Submission

044536-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6387 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68876527-68899286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68891291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 269 (F269L)

Ref Sequence

ENSEMBL: ENSMUSP00000021282 (fasta)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021282
AA Change: F269L

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

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: F269L

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: ENSMUST00000172987

Meta Mutation Damage Score

0.8225

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (42/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,881 (GRCm39)	K326E	possibly damaging	Het
Acot1	A	G	12: 84,056,627 (GRCm39)	D115G	probably benign	Het
Adm	T	C	7: 110,227,502 (GRCm39)	I6T	possibly damaging	Het
Ahi1	A	G	10: 20,844,942 (GRCm39)	Y349C	probably damaging	Het
Aldh1a1	A	G	19: 20,595,323 (GRCm39)	E84G	probably damaging	Het
Ankrd31	A	G	13: 96,967,081 (GRCm39)	D520G	probably damaging	Het
Ano4	A	T	10: 88,807,267 (GRCm39)	Y736*	probably null	Het
Atp6v1a	A	G	16: 43,907,806 (GRCm39)	F612S	possibly damaging	Het
Bltp3b	C	T	10: 89,638,919 (GRCm39)	Q442*	probably null	Het
Calcb	G	A	7: 114,319,025 (GRCm39)	V17I	possibly damaging	Het
Cfap70	C	T	14: 20,498,643 (GRCm39)	V15M	probably damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Csgalnact1	C	T	8: 68,811,365 (GRCm39)	G435D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eprs1	T	A	1: 185,119,281 (GRCm39)	M487K	possibly damaging	Het
Fat4	A	G	3: 39,037,934 (GRCm39)	E3862G	probably damaging	Het
Gdf10	T	A	14: 33,645,961 (GRCm39)	S37T	probably benign	Het
Hhatl	T	A	9: 121,619,467 (GRCm39)	H39L	probably benign	Het
Icam4	A	C	9: 20,941,505 (GRCm39)	S215R	possibly damaging	Het
Ighv1-18	T	C	12: 114,646,280 (GRCm39)	E108G	probably damaging	Het
Iqcd	T	C	5: 120,744,920 (GRCm39)	I416T	probably benign	Het
Marf1	T	A	16: 13,959,504 (GRCm39)	*577L	probably null	Het
Mark2	A	G	19: 7,263,267 (GRCm39)	F167L	probably damaging	Het
Mpdz	T	C	4: 81,299,946 (GRCm39)	T351A	possibly damaging	Het
Mrps27	A	G	13: 99,536,825 (GRCm39)	I113V	possibly damaging	Het
Numbl	C	T	7: 26,976,115 (GRCm39)	T265I	probably damaging	Het
Obsl1	C	T	1: 75,468,006 (GRCm39)	A1296T	probably benign	Het
Or10g9	A	G	9: 39,912,148 (GRCm39)	I125T	probably damaging	Het
Pcdhb21	A	G	18: 37,648,385 (GRCm39)	I505V	probably benign	Het
Prkdc	G	A	16: 15,516,679 (GRCm39)	V1018I	probably benign	Het
Prl4a1	T	A	13: 28,202,482 (GRCm39)	V19E	possibly damaging	Het
Ptpn22	A	G	3: 103,792,702 (GRCm39)	D327G	probably benign	Het
Smad3	G	T	9: 63,562,047 (GRCm39)	D310E	probably benign	Het
Sparcl1	T	A	5: 104,232,926 (GRCm39)	D625V	probably damaging	Het
Spta1	G	A	1: 174,058,899 (GRCm39)	A1945T	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sympk	T	C	7: 18,786,423 (GRCm39)	Y1009H	possibly damaging	Het
Trio	A	G	15: 27,752,825 (GRCm39)	F1026L	probably damaging	Het
Unc5d	T	A	8: 29,365,554 (GRCm39)	K144*	probably null	Het
Unk	A	G	11: 115,945,766 (GRCm39)	N479S	possibly damaging	Het
Zfp710	T	C	7: 79,735,775 (GRCm39)	I514T	probably damaging	Het
Zfp993	A	G	4: 146,741,975 (GRCm39)	T100A	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
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
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'- CTCACCTGTGGGGAAGTTATG -3'
(R):5'- GTTGGGAAGATGCAGCACTG -3'

Sequencing Primer
(F):5'- GTCTCTGCTGTGAAGACAACATG -3'
(R):5'- ACTGAGGTGACCATGTACCTC -3'

Posted On

2018-05-04