Incidental Mutation 'R8930:Ass1'
ID 680224
Institutional Source Beutler Lab
Gene Symbol Ass1
Ensembl Gene ENSMUSG00000076441
Gene Name argininosuccinate synthetase 1
Synonyms ASS, fold, Ass-1
MMRRC Submission 068774-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8930 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 31360282-31410682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31382387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 186 (M186K)
Ref Sequence ENSEMBL: ENSMUSP00000099904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102840]
AlphaFold P16460
Predicted Effect probably damaging
Transcript: ENSMUST00000102840
AA Change: M186K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: M186K

DomainStartEndE-ValueType
Pfam:QueC 6 93 2.8e-7 PFAM
Pfam:Arginosuc_synth 8 403 1.9e-177 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,629,693 (GRCm39) probably null Het
Abl2 A G 1: 156,461,402 (GRCm39) T435A probably damaging Het
Adamtsl3 C T 7: 82,261,069 (GRCm39) P29S Het
Ankrd11 C T 8: 123,622,718 (GRCm39) R378K probably damaging Het
Arap1 G A 7: 101,057,324 (GRCm39) R1355Q possibly damaging Het
Bckdk A G 7: 127,507,182 (GRCm39) D312G probably benign Het
Btg3 T A 16: 78,170,298 (GRCm39) N3I probably benign Het
Cd163 T C 6: 124,294,882 (GRCm39) F649L probably damaging Het
Cdh1 ACTCGAAATGATGTGGCTC ACTC 8: 107,392,870 (GRCm39) probably benign Het
Cnksr3 A T 10: 7,110,780 (GRCm39) V27E probably damaging Het
Col12a1 A T 9: 79,580,665 (GRCm39) S1512T probably benign Het
Cstf1 A G 2: 172,217,623 (GRCm39) T79A probably benign Het
Defa24 T C 8: 22,225,373 (GRCm39) Y88H probably benign Het
Dgkz C T 2: 91,769,915 (GRCm39) R389Q probably damaging Het
Dsg3 T A 18: 20,672,718 (GRCm39) D796E probably damaging Het
Dyrk3 G T 1: 131,057,293 (GRCm39) D293E probably damaging Het
Epb42 T C 2: 120,854,767 (GRCm39) D606G probably benign Het
Erich5 G A 15: 34,453,844 (GRCm39) G18S probably benign Het
Fam8a1 C T 13: 46,827,868 (GRCm39) T352M probably benign Het
Fastkd3 T A 13: 68,731,835 (GRCm39) L52Q probably benign Het
Fat3 G A 9: 15,910,819 (GRCm39) H1728Y probably benign Het
Fgl1 A G 8: 41,662,868 (GRCm39) V39A probably benign Het
Gm7298 T C 6: 121,742,030 (GRCm39) V484A probably benign Het
Gpr75 A G 11: 30,842,571 (GRCm39) Q492R possibly damaging Het
Hoxc8 A G 15: 102,899,318 (GRCm39) H36R possibly damaging Het
Insyn2a A G 7: 134,500,881 (GRCm39) I408T probably damaging Het
Insyn2b T C 11: 34,352,707 (GRCm39) S250P probably benign Het
Isy1 T C 6: 87,798,513 (GRCm39) I214V probably damaging Het
Kdm5b C T 1: 134,544,010 (GRCm39) P853L probably damaging Het
Man2b1 A G 8: 85,822,022 (GRCm39) T746A probably damaging Het
Mast3 A T 8: 71,234,377 (GRCm39) probably benign Het
Mki67 A G 7: 135,300,628 (GRCm39) S1469P possibly damaging Het
Mrps30 C T 13: 118,523,695 (GRCm39) A26T probably benign Het
Mup10 T A 4: 60,536,708 (GRCm39) T92S possibly damaging Het
Otud7a A G 7: 63,407,239 (GRCm39) D514G possibly damaging Het
Pacs1 T A 19: 5,185,030 (GRCm39) S932C probably damaging Het
Pbx2 C T 17: 34,813,563 (GRCm39) R188C probably damaging Het
Pclo C T 5: 14,762,989 (GRCm39) P536S possibly damaging Het
Pdxdc1 A T 16: 13,672,269 (GRCm39) I377N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phip T C 9: 82,789,041 (GRCm39) K758E possibly damaging Het
Pramel34 T G 5: 93,785,944 (GRCm39) D112A probably benign Het
Ptprm C T 17: 67,263,846 (GRCm39) R467H probably benign Het
Scnn1b C T 7: 121,502,067 (GRCm39) R242C probably damaging Het
Seh1l T C 18: 67,908,134 (GRCm39) S19P possibly damaging Het
Slc28a1 T A 7: 80,817,715 (GRCm39) V528D probably benign Het
Slc6a17 G T 3: 107,379,507 (GRCm39) Q554K probably benign Het
Spag16 G A 1: 70,338,928 (GRCm39) probably null Het
Spata31d1e C T 13: 59,890,015 (GRCm39) E184K possibly damaging Het
Srfbp1 T A 18: 52,623,117 (GRCm39) N377K possibly damaging Het
Stap2 A G 17: 56,304,895 (GRCm39) S296P probably benign Het
Tnr A T 1: 159,740,359 (GRCm39) I1178F probably damaging Het
Tomt C T 7: 101,550,350 (GRCm39) A139T probably damaging Het
Trak2 T C 1: 58,974,967 (GRCm39) Q75R probably benign Het
Tulp1 T C 17: 28,583,468 (GRCm39) K58E probably benign Het
Utp6 A G 11: 79,834,055 (GRCm39) probably null Het
Vmn1r21 T C 6: 57,820,998 (GRCm39) T149A probably benign Het
Vmn1r238 C T 18: 3,123,127 (GRCm39) V96M probably benign Het
Vmn1r9 T A 6: 57,048,666 (GRCm39) I247N probably damaging Het
Vps33b T C 7: 79,932,241 (GRCm39) C138R possibly damaging Het
Wnk1 A T 6: 119,940,226 (GRCm39) V837E probably damaging Het
Xirp2 C T 2: 67,312,707 (GRCm39) H59Y possibly damaging Het
Zbtb38 G T 9: 96,568,434 (GRCm39) D883E probably benign Het
Zbtb7a C A 10: 80,980,368 (GRCm39) D187E probably benign Het
Zfp511 T C 7: 139,617,442 (GRCm39) V148A probably damaging Het
Zfp52 A G 17: 21,780,692 (GRCm39) D180G possibly 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
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
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
R8932:Ass1 UTSW 2 31,382,387 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTACTCTCTTGTGATTAATGAGGGC -3'
(R):5'- CAGAAGAGCTGCGCTTTCTC -3'

Sequencing Primer
(F):5'- GCACCTCTAGGGGTTAAGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2021-08-31