Incidental Mutation 'R4034:Aspa'
ID 313634
Institutional Source Beutler Lab
Gene Symbol Aspa
Ensembl Gene ENSMUSG00000020774
Gene Name aspartoacylase
Synonyms Acy-2, aspartoacylase, Acy2, small lethargic, nur7
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R4034 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73195813-73217677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73199597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 227 (K227E)
Ref Sequence ENSEMBL: ENSMUSP00000139318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021119] [ENSMUST00000155630] [ENSMUST00000184572]
AlphaFold Q8R3P0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021119
AA Change: K227E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: K227E

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 possibly damaging
Transcript: ENSMUST00000184572
AA Change: K227E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: K227E

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 4.5e-71 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R 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
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
R7531:Aspa UTSW 11 73,204,351 (GRCm39) nonsense 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'- GCTGTCCTGCAGTCAATTTATG -3'
(R):5'- AGGAGCCCCATACTGGTTTAC -3'

Sequencing Primer
(F):5'- TGCCACAGCTCCAGTACTGTG -3'
(R):5'- GGTTTACAGCACTCTTCACTTTCTG -3'
Posted On 2015-04-30