Incidental Mutation 'IGL00470:Aspa'
ID 4548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aspa
Ensembl Gene ENSMUSG00000020774
Gene Name aspartoacylase
Synonyms small lethargic, aspartoacylase, nur7, Acy-2, Acy2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.301) question?
Stock # IGL00470
Quality Score
Status
Chromosome 11
Chromosomal Location 73304992-73329596 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 73313621 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021119] [ENSMUST00000155630] [ENSMUST00000184572]
AlphaFold Q8R3P0
Predicted Effect probably benign
Transcript: ENSMUST00000021119
SMART Domains Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 8e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132774
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 benign
Transcript: ENSMUST00000184572
SMART Domains Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 4.5e-71 PFAM
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,773,003 S416T probably damaging Het
4732463B04Rik G T 12: 84,043,804 probably benign Het
4921501E09Rik T A 17: 33,065,863 H655L probably benign Het
Abcd1 T C X: 73,717,548 L173P probably damaging Het
Adam18 T A 8: 24,628,133 D41V probably damaging Het
C530008M17Rik G A 5: 76,866,056 probably benign Het
Cacna2d1 T A 5: 16,246,656 probably benign Het
Cubn T A 2: 13,278,418 I3570L probably benign Het
Cyp2j13 G A 4: 96,062,038 P242L probably damaging Het
Cysrt1 T C 2: 25,239,501 probably benign Het
Dchs1 A T 7: 105,758,207 L2100H probably damaging Het
Ddb1 G A 19: 10,611,664 A229T possibly damaging Het
Dst A T 1: 34,188,962 I1554F probably damaging Het
Dvl3 C T 16: 20,530,939 P554L probably damaging Het
Fcgbp C A 7: 28,075,086 C28* probably null Het
Gm773 T C X: 56,202,013 D53G probably benign Het
Hhat A G 1: 192,717,017 Y272H probably damaging Het
Inpp5k T C 11: 75,645,525 S310P probably benign Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Kcnh5 T C 12: 74,897,796 D893G probably benign Het
Lama2 T C 10: 27,243,742 T709A probably benign Het
Mcm8 G A 2: 132,827,537 V281I probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Nup133 T G 8: 123,939,083 D201A probably damaging Het
Oxct2a A G 4: 123,323,390 L66P possibly damaging Het
Pcbp2 C T 15: 102,490,713 A224V probably damaging Het
Pla2g4e G A 2: 120,185,238 S275F probably benign Het
Pxk T C 14: 8,130,754 F118L probably damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Sphkap A G 1: 83,277,910 M706T possibly damaging Het
Tarsl2 T C 7: 65,688,908 M689T probably benign Het
Trrap T C 5: 144,818,038 V2008A probably damaging Het
Txndc2 A T 17: 65,638,574 S203T probably benign Het
Txnrd1 T G 10: 82,875,662 D42E probably damaging Het
Zswim8 G A 14: 20,723,181 D1746N probably damaging Het
Other mutations in Aspa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02644:Aspa APN 11 73322166 missense probably damaging 1.00
boneloss UTSW 11 73305594 missense probably damaging 1.00
metrecal UTSW 11 73319890 critical splice acceptor site probably null
R1348:Aspa UTSW 11 73324483 missense probably damaging 0.99
R4034:Aspa UTSW 11 73308771 missense possibly damaging 0.89
R5441:Aspa UTSW 11 73305594 missense probably damaging 1.00
R6056:Aspa UTSW 11 73308752 missense probably damaging 0.97
R7366:Aspa UTSW 11 73319890 critical splice acceptor site probably null
R7531:Aspa UTSW 11 73313525 nonsense probably null
R7869:Aspa UTSW 11 73313552 missense probably benign 0.00
R8022:Aspa UTSW 11 73322206 missense probably benign 0.09
R8066:Aspa UTSW 11 73313546 missense possibly damaging 0.51
R9278:Aspa UTSW 11 73324454 missense possibly damaging 0.88
R9667:Aspa UTSW 11 73308799 nonsense probably null
R9763:Aspa UTSW 11 73322268 nonsense probably null
X0018:Aspa UTSW 11 73324307 missense probably benign 0.13
Z1186:Aspa UTSW 11 73322187 missense probably benign
Z1187:Aspa UTSW 11 73322187 missense probably benign
Z1188:Aspa UTSW 11 73322187 missense probably benign
Z1189:Aspa UTSW 11 73322187 missense probably benign
Z1190:Aspa UTSW 11 73322187 missense probably benign
Z1191:Aspa UTSW 11 73322187 missense probably benign
Z1192:Aspa UTSW 11 73322187 missense probably benign
Posted On 2012-04-20