Incidental Mutation 'R3429:Asah1'
ID 268007
Institutional Source Beutler Lab
Gene Symbol Asah1
Ensembl Gene ENSMUSG00000031591
Gene Name N-acylsphingosine amidohydrolase 1
Synonyms 2310081N20Rik, acid ceramidase
MMRRC Submission 040647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3429 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41793234-41827810 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 41804925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034000] [ENSMUST00000110417] [ENSMUST00000143057]
AlphaFold Q9WV54
Predicted Effect probably benign
Transcript: ENSMUST00000034000
SMART Domains Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591

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 probably benign
Transcript: ENSMUST00000110417
SMART Domains Protein: ENSMUSP00000106047
Gene: ENSMUSG00000031591

Pfam:NAAA-beta 24 118 8.8e-39 PFAM
Pfam:CBAH 122 216 7.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126561
Predicted Effect probably benign
Transcript: ENSMUST00000143057
SMART Domains Protein: ENSMUSP00000117362
Gene: ENSMUSG00000031591

signal peptide 1 26 N/A INTRINSIC
Pfam:NAAA-beta 68 120 6.4e-18 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 98% (65/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,613,249 (GRCm39) M1K probably null Het
Afap1l2 C A 19: 56,904,238 (GRCm39) R683L probably damaging Het
Ankfy1 C T 11: 72,602,980 (GRCm39) probably benign Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
B4galnt4 T C 7: 140,650,752 (GRCm39) L842P probably damaging Het
Bhmt T C 13: 93,763,855 (GRCm39) E62G probably damaging Het
Btbd10 T A 7: 112,951,016 (GRCm39) R25* probably null Het
Cdh5 T A 8: 104,857,600 (GRCm39) I342N possibly damaging Het
Clca3a2 T A 3: 144,512,088 (GRCm39) E109D probably benign Het
Cntrl T C 2: 35,035,112 (GRCm39) L913S probably damaging Het
Col12a1 T A 9: 79,587,593 (GRCm39) T1183S probably benign Het
Col6a6 A T 9: 105,655,166 (GRCm39) Y852N probably damaging Het
Cpeb2 T C 5: 43,438,573 (GRCm39) probably null Het
Cyp2c66 T A 19: 39,151,892 (GRCm39) N202K probably damaging Het
Dchs1 A G 7: 105,405,711 (GRCm39) V2391A possibly damaging Het
Dgat2 A G 7: 98,806,300 (GRCm39) V299A probably benign Het
Dnah6 G A 6: 73,098,797 (GRCm39) S2034L possibly damaging Het
Eps8l2 G A 7: 140,937,832 (GRCm39) probably null Het
Fgg T A 3: 82,920,090 (GRCm39) F290I probably damaging Het
Filip1 A T 9: 79,760,952 (GRCm39) M194K probably damaging Het
Foxl2 T C 9: 98,838,035 (GRCm39) F108L probably damaging Het
Fut1 T C 7: 45,268,798 (GRCm39) F196L probably damaging Het
Gm10323 A C 13: 67,002,888 (GRCm39) W17G probably damaging Het
Gstz1 T A 12: 87,210,470 (GRCm39) probably null Het
Hacd1 T C 2: 14,049,586 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,299,156 (GRCm39) L2834Q possibly damaging Het
Hs3st3a1 C T 11: 64,327,148 (GRCm39) R86W probably benign Het
Krtap1-4 G C 11: 99,474,020 (GRCm39) probably benign Het
Lmntd2 A G 7: 140,793,910 (GRCm39) V21A probably benign Het
Lonp1 T A 17: 56,925,337 (GRCm39) D485V probably damaging Het
Mia2 A G 12: 59,236,427 (GRCm39) T1346A possibly damaging Het
Mpp2 T C 11: 101,976,141 (GRCm39) T6A probably benign Het
Mycbp2 A T 14: 103,466,866 (GRCm39) V1299E probably damaging Het
Myo1d C T 11: 80,573,236 (GRCm39) G197E probably damaging Het
Nfib T C 4: 82,416,532 (GRCm39) I168V possibly damaging Het
Or2ak5 T A 11: 58,611,097 (GRCm39) Y259F probably damaging Het
Or2b7 A T 13: 21,739,975 (GRCm39) C72* probably null Het
Or2y1e C T 11: 49,218,868 (GRCm39) A210V probably benign Het
Or4c121 T A 2: 89,023,617 (GRCm39) I254L probably benign Het
Or4c29 C T 2: 88,739,810 (GRCm39) R309Q probably benign Het
Parp3 A T 9: 106,351,922 (GRCm39) I150K probably damaging Het
Pnp A G 14: 51,185,443 (GRCm39) D49G probably benign Het
Prkcq T C 2: 11,251,781 (GRCm39) I206T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rlf A G 4: 121,007,729 (GRCm39) L417P probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Sgce T A 6: 4,730,008 (GRCm39) D72V probably benign Het
Sh3d21 A G 4: 126,056,625 (GRCm39) S66P probably benign Het
Sost C G 11: 101,854,865 (GRCm39) G148A probably damaging Het
Sybu T C 15: 44,609,854 (GRCm39) E138G probably damaging Het
Tas1r2 A G 4: 139,396,886 (GRCm39) T742A probably damaging Het
Tet3 A G 6: 83,380,401 (GRCm39) V589A probably damaging Het
Tnxb C A 17: 34,891,605 (GRCm39) C649* probably null Het
Tnxb A G 17: 34,922,561 (GRCm39) Y2458C probably damaging Het
Tsku T C 7: 98,001,746 (GRCm39) N195S probably damaging Het
Vmn1r215 T A 13: 23,260,378 (GRCm39) N139K probably damaging Het
Zfp106 T C 2: 120,357,544 (GRCm39) H1117R probably benign Het
Zfp26 A G 9: 20,352,756 (GRCm39) probably benign Het
Zfp764l1 T C 7: 126,990,914 (GRCm39) T358A possibly damaging Het
Zfp804b T A 5: 7,230,625 (GRCm39) probably benign Het
Zfr T C 15: 12,153,006 (GRCm39) S546P 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
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
R7587:Asah1 UTSW 8 41,827,578 (GRCm39) missense probably benign 0.43
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 2015-02-18