Incidental Mutation 'R5441:Aspa'
ID 427189
Institutional Source Beutler Lab
Gene Symbol Aspa
Ensembl Gene ENSMUSG00000020774
Gene Name aspartoacylase
Synonyms Acy-2, aspartoacylase, Acy2, small lethargic, nur7
MMRRC Submission 043006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R5441 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73195813-73217677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73196420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 261 (F261I)
Ref Sequence ENSEMBL: ENSMUSP00000139318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021119] [ENSMUST00000184572]
AlphaFold Q8R3P0
Predicted Effect probably damaging
Transcript: ENSMUST00000021119
AA Change: F261I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: F261I

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 8e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184572
AA Change: F261I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: F261I

DomainStartEndE-ValueType
Pfam:AstE_AspA 9 300 4.5e-71 PFAM
Meta Mutation Damage Score 0.8495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (56/57)
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 A G 1: 71,334,215 (GRCm39) Y1096H probably damaging Het
Atm C A 9: 53,427,767 (GRCm39) G448* probably null Het
Atmin T A 8: 117,684,696 (GRCm39) D785E probably damaging Het
Car1 G C 3: 14,841,364 (GRCm39) R90G probably damaging Het
Cdh11 T C 8: 103,374,178 (GRCm39) D520G probably benign Het
Cers5 T A 15: 99,649,119 (GRCm39) K50* probably null Het
Chad A T 11: 94,459,118 (GRCm39) D340V probably benign Het
Cspg5 T C 9: 110,075,711 (GRCm39) I68T probably benign Het
Fcgbpl1 C T 7: 27,856,339 (GRCm39) T2042M probably damaging Het
Fcrla T A 1: 170,752,991 (GRCm39) probably benign Het
Fer1l4 T A 2: 155,865,177 (GRCm39) D1608V probably benign Het
Fzd5 T A 1: 64,774,576 (GRCm39) Q395L probably benign Het
Gm7664 T A 13: 62,676,464 (GRCm39) probably benign Het
Hk3 T C 13: 55,162,869 (GRCm39) E2G probably damaging Het
Hmcn2 G A 2: 31,296,428 (GRCm39) E2677K possibly damaging Het
Hydin T C 8: 111,291,741 (GRCm39) L3411P possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Lysmd2 C T 9: 75,533,254 (GRCm39) H70Y possibly damaging Het
Msi2 A G 11: 88,370,818 (GRCm39) probably benign Het
Msi2 G A 11: 88,608,921 (GRCm39) probably benign Het
Napsa T A 7: 44,230,817 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,153,578 (GRCm39) L710M probably damaging Het
Or10g1 T A 14: 52,647,414 (GRCm39) K305M probably benign Het
Or12d13 T C 17: 37,647,159 (GRCm39) probably null Het
Or5m13 T A 2: 85,748,934 (GRCm39) F222I probably benign Het
Or6ae1 T C 7: 139,742,564 (GRCm39) T100A probably benign Het
Or9a2 C T 6: 41,748,782 (GRCm39) M150I probably benign Het
Plbd2 T A 5: 120,637,147 (GRCm39) Y105F probably benign Het
Plppr5 A T 3: 117,456,120 (GRCm39) I214F possibly damaging Het
Pramel34 A T 5: 93,784,456 (GRCm39) M139K possibly damaging Het
Ptcd3 A G 6: 71,858,505 (GRCm39) V655A possibly damaging Het
Ptpn14 T C 1: 189,530,767 (GRCm39) L78P probably damaging Het
Ralgapa1 A C 12: 55,766,408 (GRCm39) D1295E probably damaging Het
Rnf213 G A 11: 119,299,846 (GRCm39) D192N probably damaging Het
Ropn1 A G 16: 34,487,167 (GRCm39) I34M probably damaging Het
Rpe65 G T 3: 159,310,038 (GRCm39) G104C probably damaging Het
Scgb2b27 T C 7: 33,712,582 (GRCm39) probably benign Het
Sh3bgr T C 16: 96,007,117 (GRCm39) I29T possibly damaging Het
Smg1 T C 7: 117,794,304 (GRCm39) probably benign Het
Stim2 T A 5: 54,232,712 (GRCm39) C68* probably null Het
Syne2 G A 12: 76,035,917 (GRCm39) V3736I possibly damaging Het
Tbx19 T C 1: 164,981,249 (GRCm39) N82D probably damaging Het
Tdp1 T A 12: 99,876,544 (GRCm39) V353D probably damaging Het
Tg T A 15: 66,568,369 (GRCm39) I1352K possibly damaging Het
Thsd4 T C 9: 59,887,066 (GRCm39) T919A probably damaging Het
Tmprss11f A T 5: 86,676,062 (GRCm39) M373K probably damaging Het
Tmprss15 T A 16: 78,868,335 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Ube2o G A 11: 116,435,268 (GRCm39) R507C probably damaging Het
Unc93b1 T C 19: 3,993,703 (GRCm39) F382L probably benign Het
Vav2 A T 2: 27,160,122 (GRCm39) probably benign Het
Vmn1r207 T C 13: 22,910,686 (GRCm39) noncoding transcript Het
Zan T A 5: 137,435,013 (GRCm39) I2127F unknown Het
Zfp748 C A 13: 67,688,737 (GRCm39) C841F probably damaging Het
Zic4 C A 9: 91,266,253 (GRCm39) P299Q 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
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'- ACAGAGTTCTAGGTGTTTGCAAG -3'
(R):5'- GACTCACGTACTGCTCAATGC -3'

Sequencing Primer
(F):5'- GCAAGACTCCTATAACTGAGCTTG -3'
(R):5'- GCTCAATGCATCCCTTTATATAGC -3'
Posted On 2016-09-01