|Institutional Source||Beutler Lab|
|Gene Name||phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6945 (G1)|
|Chromosomal Location||68985697-69008460 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 69000530 bp|
|Amino Acid Change||Alanine to Valine at position 247 (A247V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021282 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021282]|
|Predicted Effect||probably benign
AA Change: A247V
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: A247V
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (51/53)|
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||
|Other mutations in Pfas||
(F):5'- CCCTGGATTGCACTGTAGACAC -3'
(R):5'- GGAGTCTACTGCTAAACCTTGC -3'
(F):5'- GTAGACACAGTCACTCTACACCCTG -3'
(R):5'- TTCTGGACAAGCCGCAGTG -3'