Incidental Mutation 'R0087:Ass1'
ID 60584
Institutional Source Beutler Lab
Gene Symbol Ass1
Ensembl Gene ENSMUSG00000076441
Gene Name argininosuccinate synthetase 1
Synonyms ASS, fold, Ass-1
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0087 (G1)
Quality Score 225
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: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging 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
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
R0644: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'- AGTAAGGCAGAACCGAGCCTATCAG -3'
(R):5'- TGCGCCACAGCCTAACTTTTATACC -3'

Sequencing Primer
(F):5'- CCGAGCCTATCAGAAGGTAAG -3'
(R):5'- attactttgcatcagaaaatgacac -3'
Posted On 2013-07-24