Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02019:Pfas'

183917

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02019

Quality Score

Status

Chromosome

Chromosomal Location

68985697-69008460 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 68993463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000146490

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

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	C	T	5: 114,879,584	A178V	possibly damaging	Het
9930021J03Rik	A	T	19: 29,717,063	S976T	probably benign	Het
Acad11	A	G	9: 104,115,345	I495M	probably damaging	Het
Adgrd1	T	C	5: 129,115,138	S91P	probably benign	Het
Agk	A	G	6: 40,376,226	I175V	probably damaging	Het
Ascc3	A	T	10: 50,690,139	N727Y	probably damaging	Het
Atrnl1	A	T	19: 57,691,763		probably benign	Het
B4galt3	G	A	1: 171,271,792	G42D	probably damaging	Het
Brip1	C	T	11: 86,197,949	C42Y	possibly damaging	Het
Camkk1	T	C	11: 73,037,201	F233L	probably damaging	Het
Cd300ld	A	T	11: 114,987,401	M95K	probably damaging	Het
Cdv3	A	G	9: 103,360,025		probably benign	Het
Cog3	G	T	14: 75,730,604	Q430K	possibly damaging	Het
D6Wsu163e	G	A	6: 126,955,221	G308S	probably damaging	Het
Dnah2	A	G	11: 69,474,285	M1951T	probably damaging	Het
Elavl3	G	A	9: 22,036,718	T51I	probably damaging	Het
Eri2	A	T	7: 119,786,080	C399*	probably null	Het
Ezh2	A	T	6: 47,551,901		probably null	Het
Fgd6	C	A	10: 94,133,354	T1161K	probably damaging	Het
Gbf1	A	T	19: 46,279,292	H1193L	possibly damaging	Het
Gbp2b	T	A	3: 142,606,990	F378Y	possibly damaging	Het
Hectd2	G	A	19: 36,615,516	V694M	possibly damaging	Het
Hook1	T	A	4: 96,022,197	S683T	probably benign	Het
Ifi202b	G	A	1: 173,974,984	R95C	possibly damaging	Het
Kdm8	G	T	7: 125,452,486	V84L	probably damaging	Het
Kifc3	G	A	8: 95,107,540		probably benign	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Lrig1	G	T	6: 94,616,429	Q424K	probably damaging	Het
Lrriq1	A	T	10: 103,178,800	M1049K	probably benign	Het
Mcidas	A	G	13: 112,996,843	N103D	probably benign	Het
Mdn1	T	C	4: 32,749,948	L4377S	possibly damaging	Het
Mrpl41	T	C	2: 24,974,417	D81G	possibly damaging	Het
Mug2	G	A	6: 122,047,435	V489I	probably benign	Het
P2rx5	G	T	11: 73,167,977		probably benign	Het
Pknox2	A	G	9: 36,923,633	L180P	probably damaging	Het
Psmd5	C	A	2: 34,854,274	C412F	probably benign	Het
Rbks	T	A	5: 31,660,017	D136V	probably damaging	Het
Rgl1	A	G	1: 152,528,469		probably benign	Het
Scube3	A	G	17: 28,167,684	D721G	probably damaging	Het
Snrnp200	T	A	2: 127,232,905	V1466D	possibly damaging	Het
Stambp	A	T	6: 83,552,031	L344Q	probably damaging	Het
Tctn1	A	T	5: 122,258,849	I157N	probably damaging	Het
Top2b	T	A	14: 16,409,965	D877E	probably benign	Het
Vmn1r78	G	A	7: 12,152,707	G82S	probably damaging	Het
Vnn1	T	C	10: 23,903,551	F453L	possibly damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	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
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
R8103:Pfas	UTSW	11	68992293	missense	probably damaging	0.98
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

Posted On

2014-05-07