Incidental Mutation 'R7531:Aspa'
ID 583329
Institutional Source Beutler Lab
Gene Symbol Aspa
Ensembl Gene ENSMUSG00000020774
Gene Name aspartoacylase
Synonyms Acy-2, aspartoacylase, Acy2, small lethargic, nur7
MMRRC Submission 045603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R7531 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73195813-73217677 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 73204351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 206 (Q206*)
Ref Sequence ENSEMBL: ENSMUSP00000021119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021119] [ENSMUST00000155630] [ENSMUST00000184572]
AlphaFold Q8R3P0
Predicted Effect probably null
Transcript: ENSMUST00000021119
AA Change: Q206*
SMART Domains Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: Q206*

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155630
SMART Domains Protein: ENSMUSP00000139131
Gene: ENSMUSG00000020774

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 196 3e-50 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184572
AA Change: Q206*
SMART Domains Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: Q206*

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 4.5e-71 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous null mutants have spongy degeneration of the brain, enlarged heads, and decreased life spans and display metal retardation and impaired coordination. Additionally, mice homozygous for an ENU-induced mutation also exhibit hearing impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,286,332 (GRCm39) T2501S probably damaging Het
Abcg3 A G 5: 105,125,507 (GRCm39) Y59H probably benign Het
Acsf2 G T 11: 94,464,057 (GRCm39) probably null Het
Adam25 T A 8: 41,206,914 (GRCm39) I60K probably damaging Het
Agrn A T 4: 156,254,261 (GRCm39) V1729E probably damaging Het
Aldh9a1 G A 1: 167,177,895 (GRCm39) V31I probably benign Het
Aqp5 T C 15: 99,489,180 (GRCm39) F10L possibly damaging Het
Arfgap2 T A 2: 91,104,089 (GRCm39) probably null Het
Asb7 T C 7: 66,328,884 (GRCm39) H52R probably damaging Het
Bpgm A G 6: 34,481,223 (GRCm39) I207V possibly damaging Het
Brinp2 A G 1: 158,094,142 (GRCm39) S187P possibly damaging Het
Clec4e A G 6: 123,262,533 (GRCm39) F128S probably benign Het
Crisp3 A G 17: 40,545,629 (GRCm39) F82L probably benign Het
Cry2 A G 2: 92,243,350 (GRCm39) L497P probably damaging Het
Dcxr A G 11: 120,617,832 (GRCm39) V48A probably benign Het
Ddx11 A T 17: 66,445,214 (GRCm39) T379S probably benign Het
Depdc1a A C 3: 159,228,276 (GRCm39) T343P probably damaging Het
Dhx36 T C 3: 62,392,389 (GRCm39) I546V probably damaging Het
Fam114a2 A G 11: 57,404,542 (GRCm39) V74A probably benign Het
Fcgbpl1 T C 7: 27,839,656 (GRCm39) F490L probably benign Het
Flg2 A T 3: 93,108,177 (GRCm39) R68S probably damaging Het
Glb1l3 T C 9: 26,764,950 (GRCm39) I154V possibly damaging Het
Gm45844 T C 7: 7,243,185 (GRCm39) T22A probably benign Het
Gramd2a A T 9: 59,617,193 (GRCm39) I83F probably damaging Het
Hcn4 A G 9: 58,767,420 (GRCm39) T994A unknown Het
Hectd1 C T 12: 51,853,150 (GRCm39) V124I probably benign Het
Hmcn1 A T 1: 150,562,531 (GRCm39) D2342E probably benign Het
Hyal6 A T 6: 24,740,786 (GRCm39) H313L possibly damaging Het
Ifnab T A 4: 88,609,523 (GRCm39) probably benign Het
Keap1 A G 9: 21,148,623 (GRCm39) I128T probably benign Het
Kit T C 5: 75,767,700 (GRCm39) S28P probably damaging Het
Krtap5-3 T A 7: 141,755,942 (GRCm39) C260S unknown Het
Lepr T A 4: 101,609,372 (GRCm39) W320R probably damaging Het
Lmod3 A T 6: 97,225,403 (GRCm39) N139K probably benign Het
Marchf1 C G 8: 66,838,989 (GRCm39) S10R probably benign Het
Naa35 A T 13: 59,765,755 (GRCm39) K380* probably null Het
Npy1r C A 8: 67,157,546 (GRCm39) F285L probably damaging Het
Nr1h3 C T 2: 91,014,739 (GRCm39) R427H probably damaging Het
Or5p79 T A 7: 108,221,269 (GRCm39) N83K probably benign Het
Pate2 A G 9: 35,582,008 (GRCm39) probably null Het
Pcmt1 A G 10: 7,556,369 (GRCm39) probably null Het
Prg4 T G 1: 150,330,786 (GRCm39) E629A unknown Het
Rin2 T G 2: 145,700,419 (GRCm39) S199A probably benign Het
Ror1 T A 4: 100,298,388 (GRCm39) L587Q probably damaging Het
Rsl1 T A 13: 67,324,566 (GRCm39) C31S possibly damaging Het
Scn4a A G 11: 106,239,523 (GRCm39) probably null Het
Sema3a T C 5: 13,615,805 (GRCm39) Y410H probably damaging Het
Smpd5 T C 15: 76,180,539 (GRCm39) V447A probably benign Het
Tax1bp1 A T 6: 52,723,682 (GRCm39) D524V probably benign Het
Tesc A T 5: 118,197,523 (GRCm39) Y179F probably damaging Het
Tm9sf2 T C 14: 122,379,824 (GRCm39) S292P possibly damaging Het
Unc45b A G 11: 82,819,838 (GRCm39) D543G probably damaging Het
Usp4 T A 9: 108,249,879 (GRCm39) V469E probably damaging Het
Vmn1r10 T A 6: 57,090,924 (GRCm39) I172N possibly damaging Het
Zfyve16 A G 13: 92,659,473 (GRCm39) L146S probably damaging Het
Other mutations in Aspa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Aspa APN 11 73,204,447 (GRCm39) splice site probably benign
IGL02644:Aspa APN 11 73,212,992 (GRCm39) missense probably damaging 1.00
boneloss UTSW 11 73,196,420 (GRCm39) missense probably damaging 1.00
metrecal UTSW 11 73,210,716 (GRCm39) critical splice acceptor site probably null
R1348:Aspa UTSW 11 73,215,309 (GRCm39) missense probably damaging 0.99
R4034:Aspa UTSW 11 73,199,597 (GRCm39) missense possibly damaging 0.89
R5441:Aspa UTSW 11 73,196,420 (GRCm39) missense probably damaging 1.00
R6056:Aspa UTSW 11 73,199,578 (GRCm39) missense probably damaging 0.97
R7366:Aspa UTSW 11 73,210,716 (GRCm39) critical splice acceptor site probably null
R7869:Aspa UTSW 11 73,204,378 (GRCm39) missense probably benign 0.00
R8022:Aspa UTSW 11 73,213,032 (GRCm39) missense probably benign 0.09
R8066:Aspa UTSW 11 73,204,372 (GRCm39) missense possibly damaging 0.51
R9278:Aspa UTSW 11 73,215,280 (GRCm39) missense possibly damaging 0.88
R9667:Aspa UTSW 11 73,199,625 (GRCm39) nonsense probably null
R9763:Aspa UTSW 11 73,213,094 (GRCm39) nonsense probably null
X0018:Aspa UTSW 11 73,215,133 (GRCm39) missense probably benign 0.13
Z1186:Aspa UTSW 11 73,213,013 (GRCm39) missense probably benign
Z1187:Aspa UTSW 11 73,213,013 (GRCm39) missense probably benign
Z1188:Aspa UTSW 11 73,213,013 (GRCm39) missense probably benign
Z1189:Aspa UTSW 11 73,213,013 (GRCm39) missense probably benign
Z1190:Aspa UTSW 11 73,213,013 (GRCm39) missense probably benign
Z1191:Aspa UTSW 11 73,213,013 (GRCm39) missense probably benign
Z1192:Aspa UTSW 11 73,213,013 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GACAGCTGCCTTGAATGTGTC -3'
(R):5'- ACAGTCATACCACACTATGATCTAG -3'

Sequencing Primer
(F):5'- ACTGAGAGTTCAAGTCCTGC -3'
(R):5'- TAGAAGTTGGTCCTCAGCC -3'
Posted On 2019-10-17