Incidental Mutation 'R7587:Asah1'
ID 587213
Institutional Source Beutler Lab
Gene Symbol Asah1
Ensembl Gene ENSMUSG00000031591
Gene Name N-acylsphingosine amidohydrolase 1
Synonyms 2310081N20Rik, acid ceramidase
MMRRC Submission 045712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7587 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 41793234-41827810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41827578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 15 (V15D)
Ref Sequence ENSEMBL: ENSMUSP00000034000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034000] [ENSMUST00000110417] [ENSMUST00000143057]
AlphaFold Q9WV54
Predicted Effect probably benign
Transcript: ENSMUST00000034000
AA Change: V15D

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591
AA Change: V15D

signal peptide 1 20 N/A INTRINSIC
Pfam:NAAA-beta 44 138 4.2e-35 PFAM
Pfam:CBAH 142 389 1e-58 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000106047
Gene: ENSMUSG00000031591
AA Change: V15D

Pfam:NAAA-beta 24 118 8.8e-39 PFAM
Pfam:CBAH 122 216 7.9e-24 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000117362
Gene: ENSMUSG00000031591
AA Change: S53R

signal peptide 1 26 N/A INTRINSIC
Pfam:NAAA-beta 68 120 6.4e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: This gene encodes acid ceramidase, an enzyme that plays a central role in ceramide metabolism. The encoded protein undergoes proteolytic processing to generate a heterodimeric enzyme comprised of alpha and beta subunits that catalyzes the hydrolysis of sphingolipid ceramide into sphingosine and free fatty acid. The homozygous disruption of this gene leads to embryonic lethality in mice whereas the heterozygous animals exhibit a progressive lipid storage disease phenotype. [provided by RefSeq, Oct 2015]
PHENOTYPE: Nullizygous mutation of this gene causes embryonic lethality. Homozygotes for the P361R mutation die prematurely with growth defects, low acid ceramidase activity, high ceramide levels, histiocyte infiltrates into various organs, Farber bodies, short femur growth plates and altered ovary morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,585,736 (GRCm39) T131A probably damaging Het
Asic1 A C 15: 99,593,471 (GRCm39) Q276P probably damaging Het
Atl2 A T 17: 80,172,496 (GRCm39) V158E probably benign Het
Atrn T A 2: 130,822,034 (GRCm39) I909N probably damaging Het
BC034090 A G 1: 155,093,232 (GRCm39) V742A probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cdh20 T C 1: 104,869,004 (GRCm39) F165S probably damaging Het
Cfap44 A G 16: 44,224,469 (GRCm39) E59G probably benign Het
Clpsl2 G A 17: 28,768,515 (GRCm39) V10I probably benign Het
D630003M21Rik T A 2: 158,042,976 (GRCm39) S855C probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
D6Wsu163e A G 6: 126,932,859 (GRCm39) I361V probably benign Het
Dchs2 A G 3: 83,211,822 (GRCm39) I1874V probably benign Het
Dennd2a T G 6: 39,460,069 (GRCm39) K679Q probably damaging Het
Dio2 A G 12: 90,696,334 (GRCm39) V218A probably benign Het
Gpr107 A T 2: 31,058,838 (GRCm39) K109N probably benign Het
Gpr108 C T 17: 57,543,732 (GRCm39) R448Q probably damaging Het
Gucy2c A G 6: 136,681,288 (GRCm39) V932A probably damaging Het
Kcnj8 T C 6: 142,512,065 (GRCm39) T181A probably damaging Het
Kdm3b A G 18: 34,930,080 (GRCm39) probably null Het
Lipc A G 9: 70,726,206 (GRCm39) Y168H probably damaging Het
Lipi C T 16: 75,347,103 (GRCm39) V439M probably benign Het
Lpp A T 16: 24,581,029 (GRCm39) probably null Het
Lrp1b T G 2: 40,620,729 (GRCm39) D3583A Het
Ltbr T C 6: 125,289,315 (GRCm39) T165A probably benign Het
Mroh3 A G 1: 136,118,736 (GRCm39) I527T probably benign Het
Mylk A G 16: 34,742,887 (GRCm39) E1133G probably benign Het
Nat3 T C 8: 68,000,226 (GRCm39) I35T probably damaging Het
Ncbp3 T C 11: 72,957,591 (GRCm39) probably null Het
Nedd1 G A 10: 92,534,592 (GRCm39) T306M probably benign Het
Nexn T C 3: 151,952,815 (GRCm39) R316G probably benign Het
Nox4 A G 7: 86,966,510 (GRCm39) H207R probably damaging Het
Nsun6 T C 2: 15,044,636 (GRCm39) Q110R probably benign Het
Or1e1b-ps1 C T 11: 73,846,010 (GRCm39) Q165* probably null Het
Or52n2c C T 7: 104,574,263 (GRCm39) R236H probably benign Het
Or7g32 T A 9: 19,408,818 (GRCm39) V258E probably damaging Het
Pappa2 T C 1: 158,678,701 (GRCm39) D905G probably damaging Het
Pepd T C 7: 34,668,965 (GRCm39) L195S probably damaging Het
Pms1 A G 1: 53,246,475 (GRCm39) S355P probably benign Het
Pop1 A T 15: 34,502,559 (GRCm39) K82M probably damaging Het
Ppp1r9b T A 11: 94,892,766 (GRCm39) D655E possibly damaging Het
Ppt2 A G 17: 34,845,777 (GRCm39) probably null Het
Pramel57 A G 5: 95,669,270 (GRCm39) T100A probably damaging Het
Prss35 T A 9: 86,637,427 (GRCm39) C66S probably damaging Het
Rfc3 A T 5: 151,574,616 (GRCm39) M1K probably null Het
Rffl T C 11: 82,700,974 (GRCm39) D284G probably damaging Het
Robo3 T C 9: 37,340,942 (GRCm39) D110G probably damaging Het
Rtel1 G A 2: 180,964,108 (GRCm39) V36M probably damaging Het
Slc1a7 T A 4: 107,867,683 (GRCm39) I457K possibly damaging Het
Smco1 A G 16: 32,092,541 (GRCm39) M71V probably benign Het
Snrnp200 G A 2: 127,069,822 (GRCm39) S989N probably damaging Het
Spef2 T A 15: 9,713,305 (GRCm39) I356F probably damaging Het
Stk24 C T 14: 121,539,699 (GRCm39) A166T probably damaging Het
Tada2b T C 5: 36,634,111 (GRCm39) I156V probably benign Het
Tasor2 T C 13: 3,618,849 (GRCm39) K2251E possibly damaging Het
Tbce C T 13: 14,194,327 (GRCm39) V111M probably damaging Het
Tlnrd1 A G 7: 83,532,155 (GRCm39) L92P probably damaging Het
Tnr T A 1: 159,713,778 (GRCm39) D735E probably benign Het
Tram1 T C 1: 13,649,771 (GRCm39) H110R probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Unc5b C T 10: 60,618,899 (GRCm39) C81Y probably damaging Het
Vps13a G A 19: 16,681,153 (GRCm39) T1041M probably benign Het
Other mutations in Asah1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Asah1 APN 8 41,802,580 (GRCm39) unclassified probably benign
IGL02512:Asah1 APN 8 41,813,344 (GRCm39) intron probably benign
IGL02523:Asah1 APN 8 41,804,984 (GRCm39) missense probably benign
IGL03115:Asah1 APN 8 41,813,336 (GRCm39) missense possibly damaging 0.94
IGL03357:Asah1 APN 8 41,799,233 (GRCm39) splice site probably benign
PIT4366001:Asah1 UTSW 8 41,796,783 (GRCm39) missense possibly damaging 0.94
R0593:Asah1 UTSW 8 41,802,619 (GRCm39) missense probably benign 0.02
R1451:Asah1 UTSW 8 41,807,049 (GRCm39) critical splice donor site probably null
R1977:Asah1 UTSW 8 41,796,554 (GRCm39) critical splice donor site probably null
R2200:Asah1 UTSW 8 41,796,765 (GRCm39) critical splice donor site probably null
R3429:Asah1 UTSW 8 41,804,925 (GRCm39) unclassified probably benign
R4002:Asah1 UTSW 8 41,801,176 (GRCm39) splice site probably benign
R4078:Asah1 UTSW 8 41,807,119 (GRCm39) missense probably damaging 0.99
R4470:Asah1 UTSW 8 41,796,761 (GRCm39) splice site probably null
R4471:Asah1 UTSW 8 41,796,761 (GRCm39) splice site probably null
R4968:Asah1 UTSW 8 41,807,067 (GRCm39) missense
R4970:Asah1 UTSW 8 41,813,314 (GRCm39) nonsense probably null
R5643:Asah1 UTSW 8 41,813,332 (GRCm39) missense possibly damaging 0.94
R5644:Asah1 UTSW 8 41,813,332 (GRCm39) missense possibly damaging 0.94
R6128:Asah1 UTSW 8 41,807,092 (GRCm39) missense probably damaging 1.00
R6419:Asah1 UTSW 8 41,796,803 (GRCm39) missense probably damaging 1.00
R7059:Asah1 UTSW 8 41,800,106 (GRCm39) missense probably damaging 0.96
R7442:Asah1 UTSW 8 41,796,602 (GRCm39) missense possibly damaging 0.60
R7663:Asah1 UTSW 8 41,794,664 (GRCm39) missense probably damaging 0.98
R7980:Asah1 UTSW 8 41,807,067 (GRCm39) missense
R8122:Asah1 UTSW 8 41,796,767 (GRCm39) missense probably benign 0.01
R8275:Asah1 UTSW 8 41,801,159 (GRCm39) missense probably damaging 1.00
R8700:Asah1 UTSW 8 41,813,312 (GRCm39) missense probably benign 0.03
R8752:Asah1 UTSW 8 41,813,314 (GRCm39) missense possibly damaging 0.47
R8960:Asah1 UTSW 8 41,800,061 (GRCm39) missense probably damaging 1.00
R9131:Asah1 UTSW 8 41,807,049 (GRCm39) critical splice donor site probably null
R9539:Asah1 UTSW 8 41,827,584 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24