Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02801:Pfas'

360221

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

68985697-69008460 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 68988277 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: 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

unknown
Transcript: ENSMUST00000152964
AA Change: P369S

SMART Domains

Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899
AA Change: P369S

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: 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	A	T	12: 76,328,995	K400N	probably benign	Het
Aox2	A	T	1: 58,354,177	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,291,507	L10Q	probably damaging	Het
Arl10	T	C	13: 54,575,883	V106A	probably benign	Het
Bmi1	T	C	2: 18,681,881	Y24H	probably damaging	Het
Cd163	T	A	6: 124,320,529	I878K	probably benign	Het
Col12a1	A	G	9: 79,608,414		probably null	Het
Csmd2	T	C	4: 128,552,075		probably null	Het
Dcp2	G	T	18: 44,417,711	M417I	probably damaging	Het
Ddx11	T	A	17: 66,148,033	C662S	probably benign	Het
Dhx29	G	A	13: 112,964,646	C1241Y	probably damaging	Het
Dnajc6	C	T	4: 101,597,813	P37L	probably benign	Het
Dqx1	A	G	6: 83,060,495		probably null	Het
Dzip1	T	A	14: 118,885,655	K643*	probably null	Het
Ecel1	A	G	1: 87,152,003	S463P	probably damaging	Het
Eml5	A	G	12: 98,817,845	V1361A	possibly damaging	Het
Fads2	C	A	19: 10,082,645	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,593,317	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,441,076	F199S	possibly damaging	Het
Frem2	A	G	3: 53,652,175	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,912,393	S442P	probably damaging	Het
Gprin3	T	C	6: 59,354,981	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,706,568	E27G	probably damaging	Het
Isl2	A	G	9: 55,545,532		probably null	Het
Lamc2	T	A	1: 153,136,783	H715L	probably benign	Het
Lrif1	T	C	3: 106,734,614	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,578,346	N254S	possibly damaging	Het
Med13l	T	C	5: 118,745,113	W1346R	probably damaging	Het
Melk	T	C	4: 44,360,930	I570T	probably damaging	Het
Mlkl	G	A	8: 111,316,432	T361M	probably benign	Het
Myo1f	T	A	17: 33,578,137	M94K	probably damaging	Het
Naip1	A	G	13: 100,444,368	C124R	probably damaging	Het
Nek1	G	A	8: 61,121,061		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Pde1c	G	T	6: 56,173,666	N289K	probably damaging	Het
Pms2	A	T	5: 143,925,835	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,307,684	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,878,827	I435V	probably benign	Het
Psip1	C	T	4: 83,458,120	S494N	probably benign	Het
Ranbp3	T	C	17: 56,710,766	V474A	probably benign	Het
Rnf220	C	T	4: 117,273,251	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603	I99V	probably benign	Het
Slc36a1	A	T	11: 55,226,053	I303F	probably benign	Het
Slc4a1	C	T	11: 102,359,146		probably null	Het
Syncrip	A	T	9: 88,479,809	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,830	Y593H	probably damaging	Het
Tenm2	G	T	11: 36,047,030	Y1605*	probably null	Het
Tmem135	T	A	7: 89,154,125	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,122	Q211L	probably benign	Het
Txlna	T	C	4: 129,640,408	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,448,632	I4V	probably benign	Het
Wdfy3	A	G	5: 101,907,587	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,726,819		probably null	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
IGL02019:Pfas	APN	11	68993463	unclassified	probably benign
IGL02053:Pfas	APN	11	68992953	missense	probably damaging	1.00
IGL02718:Pfas	APN	11	69000145	splice site	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
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

2015-12-18