|Institutional Source||Beutler Lab|
|Gene Name||argininosuccinate synthetase 1|
|Synonyms||Ass-1, ASS, fold|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5315 (G1)|
|Chromosomal Location||31470207-31520672 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 31492329 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 171 (I171F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099904 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102840]|
|Predicted Effect||probably benign
AA Change: I171F
PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: I171F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ass1||
(F):5'- TACTCTCTTGTGATTAATGAGGGC -3'
(R):5'- CAGAAGAGCTGCGCTTTCTC -3'
(F):5'- GCACCTCTAGGGGTTAAGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'