Incidental Mutation 'R0644:Ass1'
ID 56983
Institutional Source Beutler Lab
Gene Symbol Ass1
Ensembl Gene ENSMUSG00000076441
Gene Name argininosuccinate synthetase 1
Synonyms ASS, fold, Ass-1
MMRRC Submission 038829-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0644 (G1)
Quality Score 116
Status Not validated
Chromosome 2
Chromosomal Location 31360282-31410682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31404831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 371 (N371Y)
Ref Sequence ENSEMBL: ENSMUSP00000099904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102840]
AlphaFold P16460
Predicted Effect probably damaging
Transcript: ENSMUST00000102840
AA Change: N371Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: N371Y

DomainStartEndE-ValueType
Pfam:QueC 6 93 2.8e-7 PFAM
Pfam:Arginosuc_synth 8 403 1.9e-177 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192802
Meta Mutation Damage Score 0.9349 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype 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
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,185,996 (GRCm39) I625N possibly damaging Het
Accs A G 2: 93,669,574 (GRCm39) L282P probably damaging Het
Acsbg1 T A 9: 54,517,110 (GRCm39) I568F probably damaging Het
Atp5po A T 16: 91,723,372 (GRCm39) V73E probably damaging Het
Bcl9 T C 3: 97,117,813 (GRCm39) S294G probably benign Het
C2cd5 A T 6: 142,958,950 (GRCm39) M1003K probably damaging Het
Col6a5 A G 9: 105,825,523 (GRCm39) probably null Het
Dera A T 6: 137,760,046 (GRCm39) T165S probably benign Het
Elf2 C T 3: 51,215,552 (GRCm39) V53M probably damaging Het
Entpd5 A T 12: 84,432,915 (GRCm39) F212L probably benign Het
Fndc3c1 T A X: 105,478,568 (GRCm39) T761S probably benign Het
Fsip2 A G 2: 82,807,241 (GRCm39) T1187A probably benign Het
Golga2 T C 2: 32,187,533 (GRCm39) S95P probably damaging Het
Hfm1 A T 5: 107,046,122 (GRCm39) probably null Het
Impdh2 G T 9: 108,440,836 (GRCm39) V112L possibly damaging Het
Kbtbd3 A T 9: 4,329,868 (GRCm39) M81L probably damaging Het
Lactb T C 9: 66,863,172 (GRCm39) R481G possibly damaging Het
Nacad C T 11: 6,549,486 (GRCm39) C1235Y possibly damaging Het
Or5d37 T A 2: 87,923,633 (GRCm39) M216L probably benign Het
Or5h26 G A 16: 58,987,979 (GRCm39) H176Y probably damaging Het
Osbpl6 C T 2: 76,425,184 (GRCm39) R878C probably damaging Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Rab27a T A 9: 73,002,705 (GRCm39) S211R probably benign Het
Scn9a C T 2: 66,363,405 (GRCm39) probably null Het
Shank2 T C 7: 143,965,586 (GRCm39) S1065P probably benign Het
Tent5d T C X: 106,914,251 (GRCm39) F111S probably damaging Het
Tgm4 A T 9: 122,880,523 (GRCm39) D308V probably damaging Het
Vps26c A G 16: 94,303,054 (GRCm39) L182P probably damaging Het
Ythdf3 T C 3: 16,259,056 (GRCm39) I412T possibly damaging Het
Zfp831 T C 2: 174,487,656 (GRCm39) V777A probably benign Het
Other mutations in Ass1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Ass1 APN 2 31,366,934 (GRCm39) missense probably damaging 1.00
IGL02152:Ass1 APN 2 31,382,336 (GRCm39) missense probably damaging 1.00
R0008:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0083:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0084:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0085:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0087:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0183:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0220:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0254:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0302:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0346:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0440:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0472:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R0605:Ass1 UTSW 2 31,404,831 (GRCm39) missense probably damaging 1.00
R1460:Ass1 UTSW 2 31,404,753 (GRCm39) missense probably benign 0.37
R1465:Ass1 UTSW 2 31,410,428 (GRCm39) makesense probably null
R1465:Ass1 UTSW 2 31,410,428 (GRCm39) makesense probably null
R1770:Ass1 UTSW 2 31,376,528 (GRCm39) missense probably benign 0.29
R1908:Ass1 UTSW 2 31,383,160 (GRCm39) nonsense probably null
R2361:Ass1 UTSW 2 31,410,394 (GRCm39) missense probably benign 0.02
R2430:Ass1 UTSW 2 31,391,508 (GRCm39) missense probably damaging 1.00
R3816:Ass1 UTSW 2 31,400,117 (GRCm39) splice site probably benign
R4614:Ass1 UTSW 2 31,404,795 (GRCm39) missense probably damaging 1.00
R4628:Ass1 UTSW 2 31,371,000 (GRCm39) missense probably damaging 1.00
R5007:Ass1 UTSW 2 31,391,544 (GRCm39) missense possibly damaging 0.90
R5069:Ass1 UTSW 2 31,400,185 (GRCm39) missense probably damaging 1.00
R5081:Ass1 UTSW 2 31,378,665 (GRCm39) critical splice donor site probably null
R5315:Ass1 UTSW 2 31,382,341 (GRCm39) missense probably benign 0.21
R5370:Ass1 UTSW 2 31,408,745 (GRCm39) missense possibly damaging 0.56
R6259:Ass1 UTSW 2 31,378,654 (GRCm39) missense possibly damaging 0.80
R6541:Ass1 UTSW 2 31,400,245 (GRCm39) missense probably damaging 0.99
R6731:Ass1 UTSW 2 31,404,796 (GRCm39) missense probably damaging 1.00
R6927:Ass1 UTSW 2 31,404,813 (GRCm39) missense probably damaging 1.00
R7811:Ass1 UTSW 2 31,404,753 (GRCm39) missense probably benign 0.37
R7995:Ass1 UTSW 2 31,376,552 (GRCm39) missense probably benign 0.00
R8504:Ass1 UTSW 2 31,391,544 (GRCm39) missense possibly damaging 0.90
R8816:Ass1 UTSW 2 31,383,189 (GRCm39) critical splice donor site probably benign
R8865:Ass1 UTSW 2 31,410,407 (GRCm39) missense probably benign 0.00
R8930:Ass1 UTSW 2 31,382,387 (GRCm39) missense probably damaging 1.00
R8932:Ass1 UTSW 2 31,382,387 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTAAGGCAGAACCGAGCCTATC -3'
(R):5'- GCGCCACAGCCTAACTTTTATACCC -3'

Sequencing Primer
(F):5'- CCGAGCCTATCAGAAGGTAAG -3'
(R):5'- attactttgcatcagaaaatgacac -3'
Posted On 2013-07-11