Incidental Mutation 'R1348:Aspa'
ID 156574
Institutional Source Beutler Lab
Gene Symbol Aspa
Ensembl Gene ENSMUSG00000020774
Gene Name aspartoacylase
Synonyms Acy-2, aspartoacylase, Acy2, small lethargic, nur7
MMRRC Submission 039413-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R1348 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73195813-73217677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73215309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 2 (T2I)
Ref Sequence ENSEMBL: ENSMUSP00000118109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021119] [ENSMUST00000134079] [ENSMUST00000141898] [ENSMUST00000155630] [ENSMUST00000184572]
AlphaFold Q8R3P0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021119
AA Change: T2I

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: T2I

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 8e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132774
Predicted Effect possibly damaging
Transcript: ENSMUST00000134079
AA Change: T2I

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121135
Gene: ENSMUSG00000020774
AA Change: T2I

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 163 4.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141898
AA Change: T2I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118109
Gene: ENSMUSG00000020774
AA Change: T2I

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 93 2.3e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155630
AA Change: T2I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139131
Gene: ENSMUSG00000020774
AA Change: T2I

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 196 3e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000184572
AA Change: T2I

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: T2I

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 4.5e-71 PFAM
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 87.2%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,593,212 (GRCm39) probably null Het
Art1 G A 7: 101,756,579 (GRCm39) A33T possibly damaging Het
Cntn1 C T 15: 92,212,544 (GRCm39) T902I probably damaging Het
Dpep1 G A 8: 123,925,899 (GRCm39) C118Y probably benign Het
Garin1a A G 6: 29,283,284 (GRCm39) H36R probably benign Het
Gucy2g C T 19: 55,211,338 (GRCm39) V631I possibly damaging Het
Igf1r C G 7: 67,868,216 (GRCm39) N1220K probably damaging Het
Insr A T 8: 3,242,635 (GRCm39) I28N probably damaging Het
Katnal2 T C 18: 77,066,238 (GRCm39) probably null Het
Klrb1a T C 6: 128,586,797 (GRCm39) D156G possibly damaging Het
Kpna6 G A 4: 129,555,152 (GRCm39) R26* probably null Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Naa15 C G 3: 51,373,091 (GRCm39) C661W probably damaging Het
Or10g7 T C 9: 39,905,124 (GRCm39) I6T probably benign Het
Or1e1 G T 11: 73,244,682 (GRCm39) M34I probably benign Het
Or8g20 A G 9: 39,396,532 (GRCm39) S3P probably benign Het
Paxbp1 A G 16: 90,831,904 (GRCm39) V328A probably damaging Het
Pkd1l1 T C 11: 8,784,806 (GRCm39) T1993A probably benign Het
Pold1 C T 7: 44,184,106 (GRCm39) V865I probably benign Het
Racgap1 A G 15: 99,524,246 (GRCm39) I387T possibly damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rbms2 C T 10: 128,012,214 (GRCm39) probably null Het
Recql4 A G 15: 76,593,411 (GRCm39) I140T probably benign Het
Shld2 T A 14: 33,990,880 (GRCm39) I9F probably damaging Het
Sorl1 A T 9: 41,911,708 (GRCm39) probably null Het
Speg G A 1: 75,399,516 (GRCm39) G2321D probably damaging Het
Trp53tg5 A G 2: 164,315,521 (GRCm39) probably null Het
Tyw3 A C 3: 154,299,451 (GRCm39) M86R possibly damaging Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Zfp472 T A 17: 33,196,794 (GRCm39) F290I probably benign 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
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
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'- TGGTAATGAATGGCTTCACGTCCAG -3'
(R):5'- GCTGCATCACGATCCTTGATCCTTG -3'

Sequencing Primer
(F):5'- CAGCCCTGCTCTGTGAAC -3'
(R):5'- GTGTCCATAGAATAAACAGGCTG -3'
Posted On 2014-02-11