Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02053:Pfas'

185136

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 #

IGL02053

Quality Score

Status

Chromosome

Chromosomal Location

68876527-68899286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68883779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 626 (L626Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021282 (fasta)

Gene Model

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

AlphaFold

Q5SUR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021282
AA Change: L626Q

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

SMART Domains

Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: L626Q

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,761,058 (GRCm39)	S918P	possibly damaging	Het
AY358078	G	T	14: 52,043,009 (GRCm39)	E232D	unknown	Het
Baz1b	C	A	5: 135,271,320 (GRCm39)	P1301Q	probably benign	Het
Btn2a2	T	C	13: 23,662,990 (GRCm39)	D311G	probably damaging	Het
Cept1	A	T	3: 106,440,712 (GRCm39)	L149Q	probably damaging	Het
Clec2m	T	C	6: 129,303,725 (GRCm39)	Q80R	probably benign	Het
Col6a4	T	A	9: 105,940,294 (GRCm39)	D1212V	possibly damaging	Het
Cyp2j8	T	C	4: 96,358,891 (GRCm39)	I343V	probably damaging	Het
Dapk2	A	G	9: 66,128,027 (GRCm39)	I102V	probably benign	Het
Dntt	A	G	19: 41,034,713 (GRCm39)	T321A	probably benign	Het
Entrep2	C	T	7: 64,469,590 (GRCm39)	G53R	probably damaging	Het
Ezh1	T	C	11: 101,090,769 (GRCm39)		probably benign	Het
Fbxw5	T	C	2: 25,393,453 (GRCm39)	V18A	probably damaging	Het
Fgd5	T	A	6: 92,030,225 (GRCm39)	C1109S	probably benign	Het
Ms4a6c	A	G	19: 11,455,586 (GRCm39)	I132V	probably benign	Het
Ncoa3	T	C	2: 165,896,754 (GRCm39)	L515P	probably damaging	Het
Nfic	A	G	10: 81,256,385 (GRCm39)	V115A	probably damaging	Het
P4ha2	A	G	11: 54,008,413 (GRCm39)	T207A	probably benign	Het
Pde10a	G	T	17: 9,193,601 (GRCm39)	V732L	probably damaging	Het
Plekha6	A	G	1: 133,200,230 (GRCm39)	N270D	probably damaging	Het
Prdm10	T	C	9: 31,272,144 (GRCm39)	S977P	probably benign	Het
Ptprm	A	G	17: 67,000,836 (GRCm39)	L1073P	probably damaging	Het
Rai14	A	C	15: 10,633,242 (GRCm39)	H49Q	probably benign	Het
Ros1	T	A	10: 52,038,816 (GRCm39)	I394F	probably damaging	Het
Sec14l1	C	T	11: 117,047,738 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,550,413 (GRCm39)	I151V	probably benign	Het
Tet2	T	A	3: 133,194,284 (GRCm39)	N50I	possibly damaging	Het
Tubal3	A	C	13: 3,983,159 (GRCm39)	D313A	probably damaging	Het
Usp45	A	G	4: 21,824,553 (GRCm39)	N483S	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
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
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

Posted On

2014-05-07