Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Pfas'

192544

Institutional Source

Beutler Lab

Gene Symbol

Pfas

Ensembl Gene

ENSMUSG00000020899

Gene Name

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms

4432409B16Rik, Sofa

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68876527-68899286 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 68888872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021282 (fasta)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably null
Transcript: ENSMUST00000021282

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899

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 null
Transcript: ENSMUST00000021282

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899

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

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

noncoding transcript
Transcript: ENSMUST00000172915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172987

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,337,363 (GRCm39)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,454,205 (GRCm39)	F341I	probably benign	Het
Adam8	A	T	7: 139,563,224 (GRCm39)	N767K	possibly damaging	Het
Aig1	T	C	10: 13,744,366 (GRCm39)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,599,862 (GRCm39)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,789,204 (GRCm39)	I264V	probably benign	Het
Areg	T	G	5: 91,291,357 (GRCm39)	V100G	probably damaging	Het
Bcan	A	G	3: 87,896,543 (GRCm39)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,539,200 (GRCm39)	I188N	probably damaging	Het
Cdt1	T	C	8: 123,296,722 (GRCm39)	Y203H	probably damaging	Het
Cfap119	A	T	7: 127,186,028 (GRCm39)		probably null	Het
Chil3	A	C	3: 106,067,682 (GRCm39)		probably null	Het
Ciao2b	A	G	8: 105,366,718 (GRCm39)	V132A	probably damaging	Het
Cimip2c	A	G	5: 30,641,210 (GRCm39)		probably null	Het
Cth	A	G	3: 157,613,073 (GRCm39)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,712,666 (GRCm39)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,154,603 (GRCm39)	S226P	probably damaging	Het
Egfr	A	T	11: 16,809,019 (GRCm39)	Q71L	probably benign	Het
Eml6	T	A	11: 29,696,282 (GRCm39)	K1940*	probably null	Het
Epn2	T	A	11: 61,414,014 (GRCm39)	K391*	probably null	Het
Erich1	A	T	8: 14,140,259 (GRCm39)	S2T	possibly damaging	Het
Evi5	A	C	5: 107,966,786 (GRCm39)	L245R	probably damaging	Het
Evpl	T	C	11: 116,118,414 (GRCm39)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 106,021,645 (GRCm39)	H128Y	probably benign	Het
Extl1	G	A	4: 134,091,894 (GRCm39)	Q320*	probably null	Het
Fam91a1	T	A	15: 58,304,797 (GRCm39)	S416T	probably benign	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 155,871,605 (GRCm39)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,059,005 (GRCm39)	I488T	possibly damaging	Het
Gak	A	T	5: 108,752,243 (GRCm39)	Y338*	probably null	Het
Garin4	T	A	1: 190,896,018 (GRCm39)	E208D	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Glrb	G	A	3: 80,769,081 (GRCm39)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,762,671 (GRCm39)		probably benign	Het
Gpr19	A	T	6: 134,847,192 (GRCm39)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,811,716 (GRCm39)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,223,535 (GRCm39)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,594,626 (GRCm39)	A294T	probably benign	Het
Hspg2	T	A	4: 137,275,323 (GRCm39)		probably null	Het
Ift74	A	T	4: 94,573,940 (GRCm39)	N472I	probably benign	Het
Il1a	C	T	2: 129,144,813 (GRCm39)	D202N	probably damaging	Het
Islr	T	C	9: 58,064,778 (GRCm39)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,843,946 (GRCm39)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,876,852 (GRCm39)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,075,974 (GRCm39)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,297,416 (GRCm39)	*247Q	probably null	Het
Megf10	T	C	18: 57,410,802 (GRCm39)		probably null	Het
Mettl2	T	A	11: 105,030,544 (GRCm39)	H373Q	probably benign	Het
Mocos	A	G	18: 24,816,273 (GRCm39)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,053,761 (GRCm39)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,828,580 (GRCm39)	Y658C	probably damaging	Het
Nin	G	A	12: 70,077,712 (GRCm39)	A1031V	probably benign	Het
Nin	C	A	12: 70,092,337 (GRCm39)	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,797,713 (GRCm39)	R344*	probably null	Het
Notch2	T	C	3: 98,052,443 (GRCm39)	S1980P	probably damaging	Het
Npat	C	T	9: 53,473,960 (GRCm39)	S584L	probably benign	Het
Nphp4	A	G	4: 152,581,121 (GRCm39)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,472,642 (GRCm39)	N51S	possibly damaging	Het
Or2n1e	A	G	17: 38,585,932 (GRCm39)	K90R	probably benign	Het
Or2y16	T	A	11: 49,335,116 (GRCm39)	I146N	possibly damaging	Het
Or5al1	T	C	2: 85,990,280 (GRCm39)	I145V	probably benign	Het
Or5w22	A	G	2: 87,362,427 (GRCm39)	T17A	probably benign	Het
Pced1b	T	A	15: 97,282,758 (GRCm39)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,507,422 (GRCm39)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,169,374 (GRCm39)	K683N	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,587,394 (GRCm39)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,884,612 (GRCm39)	Y775*	probably null	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,163,765 (GRCm39)	T47I	possibly damaging	Het
Pter	A	T	2: 12,999,572 (GRCm39)	D169V	probably damaging	Het
Ptpn12	A	G	5: 21,203,168 (GRCm39)	S537P	probably benign	Het
Ptpru	T	A	4: 131,506,361 (GRCm39)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,229,350 (GRCm39)	D67E	probably damaging	Het
Rfc4	T	C	16: 22,932,983 (GRCm39)	E318G	probably benign	Het
Samd13	C	A	3: 146,368,469 (GRCm39)	R41L	probably benign	Het
Shoc1	T	C	4: 59,113,926 (GRCm39)	K13R	unknown	Het
Slc6a2	T	C	8: 93,699,440 (GRCm39)	I156T	possibly damaging	Het
Spag16	T	C	1: 70,036,015 (GRCm39)	F348L	probably benign	Het
Spag4	T	C	2: 155,907,342 (GRCm39)	Y21H	probably damaging	Het
Stam2	G	A	2: 52,593,187 (GRCm39)	A368V	possibly damaging	Het
Stc1	A	T	14: 69,275,776 (GRCm39)	M190L	probably benign	Het
Stxbp1	A	G	2: 32,690,629 (GRCm39)	L475P	probably damaging	Het
Syn3	A	T	10: 85,916,075 (GRCm39)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,056,219 (GRCm39)	T251K	probably benign	Het
Tbpl2	A	T	2: 23,985,057 (GRCm39)	M29K	probably benign	Het
Tead3	T	G	17: 28,553,698 (GRCm39)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 61,049,977 (GRCm39)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm39)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,122,695 (GRCm39)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,374 (GRCm39)	W449*	probably null	Het
Txndc11	A	G	16: 10,905,639 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,296,024 (GRCm39)	D2615E	probably damaging	Het
Vars1	A	G	17: 35,233,734 (GRCm39)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,509,951 (GRCm39)	I542T	probably benign	Het
Vwf	A	G	6: 125,620,032 (GRCm39)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,662,863 (GRCm39)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,406,115 (GRCm39)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,268,879 (GRCm39)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,161,700 (GRCm39)	Y155C	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
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
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'- AACATGATGGGCTTGATCCACTCAC -3'
(R):5'- TGAAGATGTGTCCTCCAGCTTCCG -3'

Sequencing Primer
(F):5'- ACGTCTCTGACCATCTGGAAG -3'
(R):5'- AGCTTCCGCTTTTTTTCCTCTTAG -3'

Posted On

2014-05-14