Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00909:Pfas'

28500

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 #

IGL00909

Quality Score

Status

Chromosome

Chromosomal Location

68985697-69008460 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69003814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 8 (Y8*)

Ref Sequence

ENSEMBL: ENSMUSP00000021282 (fasta)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably null
Transcript: ENSMUST00000021282
AA Change: Y8*

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: Y8*

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: ENSMUST00000172987

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,952 (GRCm38)	D94V	possibly damaging	Het
9330182L06Rik	A	T	5: 9,380,282 (GRCm38)	D64V	probably damaging	Het
Adamts20	T	C	15: 94,379,813 (GRCm38)	Y256C	probably damaging	Het
Ampd1	A	C	3: 103,088,428 (GRCm38)	D218A	probably benign	Het
Arcn1	T	C	9: 44,751,354 (GRCm38)	N332D	probably damaging	Het
Arpp21	T	A	9: 112,176,123 (GRCm38)	I219F	probably damaging	Het
Bicra	A	T	7: 15,996,577 (GRCm38)	D5E	possibly damaging	Het
Birc2	A	C	9: 7,833,665 (GRCm38)	W272G	probably damaging	Het
Cd2ap	A	T	17: 42,830,114 (GRCm38)		probably benign	Het
Celsr1	G	A	15: 85,922,235 (GRCm38)	R974W	probably damaging	Het
Col4a2	A	C	8: 11,448,167 (GRCm38)	T1659P	possibly damaging	Het
Coq9	C	T	8: 94,851,902 (GRCm38)	L215F	possibly damaging	Het
Cped1	A	G	6: 22,122,427 (GRCm38)		probably benign	Het
Gga3	T	A	11: 115,591,741 (GRCm38)	R105W	probably damaging	Het
Gm996	A	G	2: 25,579,407 (GRCm38)	L164P	probably damaging	Het
Hmcn1	C	T	1: 150,638,869 (GRCm38)	R3584Q	probably benign	Het
Hs6st3	T	A	14: 119,139,034 (GRCm38)	L207Q	probably damaging	Het
Ift43	A	G	12: 86,162,033 (GRCm38)	E141G	probably damaging	Het
Mrps31	T	G	8: 22,427,825 (GRCm38)	F287V	probably damaging	Het
Naca	A	G	10: 128,041,682 (GRCm38)		probably benign	Het
Nrf1	C	T	6: 30,098,478 (GRCm38)	T135M	probably damaging	Het
Olfr510	A	G	7: 108,667,700 (GRCm38)	I95V	possibly damaging	Het
Ppip5k1	G	A	2: 121,347,358 (GRCm38)	R323W	probably damaging	Het
Rasal1	A	G	5: 120,664,807 (GRCm38)	E376G	probably damaging	Het
Rfc1	A	G	5: 65,279,699 (GRCm38)	L546P	probably benign	Het
Rheb	A	T	5: 24,807,075 (GRCm38)	I129N	probably damaging	Het
Scpep1	A	T	11: 88,952,477 (GRCm38)	F52I	probably damaging	Het
Six2	A	T	17: 85,687,891 (GRCm38)	L21Q	probably damaging	Het
Slit1	G	T	19: 41,602,255 (GRCm38)	T1326K	possibly damaging	Het
Spata2l	T	C	8: 123,233,977 (GRCm38)	D191G	possibly damaging	Het
Susd4	C	A	1: 182,891,987 (GRCm38)	A389D	probably damaging	Het
Tcaf2	A	T	6: 42,624,576 (GRCm38)	F850I	probably damaging	Het
Teddm1b	T	C	1: 153,874,645 (GRCm38)	S67P	probably damaging	Het
Tiparp	T	A	3: 65,532,109 (GRCm38)	V100D	probably damaging	Het
Zdhhc14	A	G	17: 5,752,792 (GRCm38)	H390R	probably benign	Het

Other mutations in Pfas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Pfas	APN	11	69,001,260 (GRCm38)	missense	probably benign	0.09
IGL01712:Pfas	APN	11	68,991,060 (GRCm38)	missense	probably benign	0.34
IGL02019:Pfas	APN	11	68,993,463 (GRCm38)	unclassified	probably benign
IGL02053:Pfas	APN	11	68,992,953 (GRCm38)	missense	probably damaging	1.00
IGL02718:Pfas	APN	11	69,000,145 (GRCm38)	splice site	probably benign
IGL02801:Pfas	APN	11	68,988,277 (GRCm38)	unclassified	probably benign
Surf	UTSW	11	68,988,021 (GRCm38)	missense	probably damaging	1.00
PIT4812001:Pfas	UTSW	11	68,990,036 (GRCm38)	missense
R0037:Pfas	UTSW	11	69,000,036 (GRCm38)	missense	probably damaging	1.00
R0046:Pfas	UTSW	11	68,990,467 (GRCm38)	missense	probably benign
R0046:Pfas	UTSW	11	68,990,467 (GRCm38)	missense	probably benign
R0408:Pfas	UTSW	11	69,001,105 (GRCm38)	critical splice donor site	probably null
R0532:Pfas	UTSW	11	69,002,629 (GRCm38)	splice site	probably benign
R0707:Pfas	UTSW	11	68,998,037 (GRCm38)	missense	probably benign	0.00
R0783:Pfas	UTSW	11	69,000,521 (GRCm38)	missense	probably damaging	1.00
R0946:Pfas	UTSW	11	68,990,747 (GRCm38)	splice site	probably null
R0946:Pfas	UTSW	11	68,993,295 (GRCm38)	critical splice donor site	probably null
R1470:Pfas	UTSW	11	68,991,359 (GRCm38)	missense	probably benign
R1470:Pfas	UTSW	11	68,991,359 (GRCm38)	missense	probably benign
R1507:Pfas	UTSW	11	68,990,034 (GRCm38)	missense	probably benign	0.06
R1699:Pfas	UTSW	11	68,998,046 (GRCm38)	critical splice acceptor site	probably null
R1870:Pfas	UTSW	11	68,991,969 (GRCm38)	missense	probably damaging	1.00
R1871:Pfas	UTSW	11	68,991,969 (GRCm38)	missense	probably damaging	1.00
R1959:Pfas	UTSW	11	68,994,284 (GRCm38)	missense	probably damaging	1.00
R2026:Pfas	UTSW	11	68,993,957 (GRCm38)	missense	probably damaging	1.00
R2180:Pfas	UTSW	11	68,992,187 (GRCm38)	missense	possibly damaging	0.92
R3808:Pfas	UTSW	11	68,989,953 (GRCm38)	intron	probably benign
R3809:Pfas	UTSW	11	68,989,953 (GRCm38)	intron	probably benign
R3872:Pfas	UTSW	11	69,000,263 (GRCm38)	missense	probably damaging	1.00
R3906:Pfas	UTSW	11	68,988,286 (GRCm38)	unclassified	probably benign
R4092:Pfas	UTSW	11	68,993,949 (GRCm38)	missense	probably benign
R4437:Pfas	UTSW	11	68,988,417 (GRCm38)	missense	probably damaging	1.00
R4599:Pfas	UTSW	11	68,991,069 (GRCm38)	missense	probably benign	0.15
R4763:Pfas	UTSW	11	68,990,194 (GRCm38)	missense	possibly damaging	0.81
R5116:Pfas	UTSW	11	68,990,990 (GRCm38)	intron	probably benign
R5310:Pfas	UTSW	11	68,988,021 (GRCm38)	missense	probably damaging	1.00
R5328:Pfas	UTSW	11	68,988,592 (GRCm38)	missense	probably damaging	1.00
R5351:Pfas	UTSW	11	68,991,391 (GRCm38)	missense	probably damaging	1.00
R5427:Pfas	UTSW	11	69,001,153 (GRCm38)	missense	possibly damaging	0.90
R5533:Pfas	UTSW	11	68,991,470 (GRCm38)	missense	probably benign	0.02
R5602:Pfas	UTSW	11	68,991,045 (GRCm38)	missense	probably benign	0.05
R5637:Pfas	UTSW	11	68,993,323 (GRCm38)	missense	probably damaging	1.00
R5645:Pfas	UTSW	11	68,991,132 (GRCm38)	missense	probably damaging	1.00
R6149:Pfas	UTSW	11	68,991,945 (GRCm38)	missense	probably benign	0.07
R6295:Pfas	UTSW	11	68,997,999 (GRCm38)	missense	probably benign	0.36
R6305:Pfas	UTSW	11	69,001,197 (GRCm38)	missense	possibly damaging	0.51
R6387:Pfas	UTSW	11	69,000,465 (GRCm38)	missense	probably damaging	1.00
R6425:Pfas	UTSW	11	68,991,071 (GRCm38)	missense	probably benign	0.17
R6523:Pfas	UTSW	11	68,990,457 (GRCm38)	missense	probably benign
R6914:Pfas	UTSW	11	68,992,181 (GRCm38)	missense	probably benign	0.01
R6915:Pfas	UTSW	11	68,992,181 (GRCm38)	missense	probably benign	0.01
R6945:Pfas	UTSW	11	69,000,530 (GRCm38)	missense	probably benign
R6957:Pfas	UTSW	11	68,993,883 (GRCm38)	missense	probably benign	0.14
R7025:Pfas	UTSW	11	68,990,760 (GRCm38)	missense	probably benign	0.01
R7257:Pfas	UTSW	11	68,992,959 (GRCm38)	missense	probably damaging	1.00
R7386:Pfas	UTSW	11	69,003,774 (GRCm38)	missense	probably benign
R7424:Pfas	UTSW	11	69,000,092 (GRCm38)	missense	probably damaging	1.00
R7459:Pfas	UTSW	11	68,988,655 (GRCm38)	missense
R7593:Pfas	UTSW	11	68,991,095 (GRCm38)	missense
R7731:Pfas	UTSW	11	69,000,045 (GRCm38)	missense	probably damaging	1.00
R8103:Pfas	UTSW	11	68,992,293 (GRCm38)	missense	probably damaging	0.98
R8248:Pfas	UTSW	11	69,000,263 (GRCm38)	missense	probably damaging	1.00
R8804:Pfas	UTSW	11	68,991,082 (GRCm38)	missense
R8853:Pfas	UTSW	11	68,992,918 (GRCm38)	missense	probably damaging	1.00
R9032:Pfas	UTSW	11	68,988,595 (GRCm38)	missense
R9050:Pfas	UTSW	11	68,991,741 (GRCm38)	missense	probably benign	0.01
R9283:Pfas	UTSW	11	68,993,882 (GRCm38)	missense	probably damaging	1.00
R9644:Pfas	UTSW	11	68,992,716 (GRCm38)	missense	probably benign	0.23
Z1176:Pfas	UTSW	11	69,002,487 (GRCm38)	missense	probably damaging	1.00
Z1176:Pfas	UTSW	11	68,990,070 (GRCm38)	missense
Z1177:Pfas	UTSW	11	69,002,493 (GRCm38)	nonsense	probably null
Z1177:Pfas	UTSW	11	68,990,225 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-04-17