Incidental Mutation 'R7059:Asah1'
ID 548127
Institutional Source Beutler Lab
Gene Symbol Asah1
Ensembl Gene ENSMUSG00000031591
Gene Name N-acylsphingosine amidohydrolase 1
Synonyms 2310081N20Rik, acid ceramidase
MMRRC Submission 045156-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7059 (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 41800106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 169 (N169K)
Ref Sequence ENSEMBL: ENSMUSP00000034000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034000] [ENSMUST00000110417]
AlphaFold Q9WV54
Predicted Effect probably damaging
Transcript: ENSMUST00000034000
AA Change: N169K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591
AA Change: N169K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:NAAA-beta 24 118 8.8e-39 PFAM
Pfam:CBAH 122 216 7.9e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,509 (GRCm39) probably benign Het
Abca16 A G 7: 120,020,971 (GRCm39) T5A probably benign Het
Abraxas1 T C 5: 100,954,103 (GRCm39) D349G probably benign Het
Adcyap1r1 T A 6: 55,468,295 (GRCm39) L405Q probably damaging Het
Aqp5 A T 15: 99,492,127 (GRCm39) T125S probably benign Het
Atl3 A G 19: 7,511,333 (GRCm39) N515D probably benign Het
Atl3 A C 19: 7,511,334 (GRCm39) N520T probably benign Het
Atp6v1c2 C A 12: 17,339,005 (GRCm39) E249* probably null Het
Bcl2a1b T A 9: 89,081,813 (GRCm39) I134K probably damaging Het
Brd10 T A 19: 29,696,945 (GRCm39) E849D probably benign Het
Btbd10 C T 7: 112,929,129 (GRCm39) R159H probably damaging Het
Chmp6 T C 11: 119,806,866 (GRCm39) F7L probably damaging Het
Colq C A 14: 31,247,991 (GRCm39) C409F probably damaging Het
Cpox T A 16: 58,491,290 (GRCm39) V167E probably damaging Het
Cul3 T C 1: 80,254,141 (GRCm39) Y545C probably benign Het
Dqx1 C T 6: 83,041,790 (GRCm39) A544V probably benign Het
Dzip3 A G 16: 48,801,305 (GRCm39) I73T probably benign Het
Epha3 T A 16: 63,388,818 (GRCm39) Y810F probably damaging Het
Esp36 A T 17: 38,727,942 (GRCm39) I113N unknown Het
Fbxw17 T A 13: 50,586,584 (GRCm39) W429R probably damaging Het
Fcrl2 A T 3: 87,164,647 (GRCm39) I293N possibly damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Gm8126 T A 14: 43,118,975 (GRCm39) L148H probably benign Het
Gpr39 C A 1: 125,605,696 (GRCm39) S208Y probably damaging Het
Heatr5a T C 12: 51,935,017 (GRCm39) E1662G probably damaging Het
Hgfac T A 5: 35,201,773 (GRCm39) L302Q possibly damaging Het
Itih1 G A 14: 30,653,266 (GRCm39) H721Y possibly damaging Het
Kat8 A G 7: 127,524,075 (GRCm39) I372V probably benign Het
Kcnk1 T A 8: 126,756,466 (GRCm39) Y329* probably null Het
Kcns2 A T 15: 34,838,981 (GRCm39) I115F probably damaging Het
Kif1a C T 1: 92,974,551 (GRCm39) probably benign Het
Lcn2 T A 2: 32,277,608 (GRCm39) D127V possibly damaging Het
Lrfn1 T C 7: 28,166,355 (GRCm39) V583A possibly damaging Het
Map3k1 T C 13: 111,909,312 (GRCm39) I55V probably benign Het
Mapk9 T C 11: 49,757,874 (GRCm39) probably null Het
Mrpl18 A G 17: 13,132,668 (GRCm39) S154P possibly damaging Het
Mst1 C A 9: 107,961,263 (GRCm39) H524Q probably benign Het
Mtpap T C 18: 4,396,202 (GRCm39) L498P probably damaging Het
Myl3 C T 9: 110,571,105 (GRCm39) probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Mzf1 G T 7: 12,786,985 (GRCm39) S28R probably damaging Het
Olfm1 T C 2: 28,112,628 (GRCm39) S205P probably damaging Het
Or52e8 A T 7: 104,625,224 (GRCm39) probably null Het
Prrc2a G A 17: 35,376,364 (GRCm39) P809S probably damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rbm48 A T 5: 3,640,625 (GRCm39) C251* probably null Het
Rxfp1 A T 3: 79,559,576 (GRCm39) V415E probably damaging Het
Slc12a6 T A 2: 112,183,257 (GRCm39) L748Q probably damaging Het
Slc19a3 T A 1: 83,000,090 (GRCm39) Y309F probably damaging Het
Slc36a1 A G 11: 55,114,498 (GRCm39) D192G probably damaging Het
Slc38a4 G T 15: 96,906,895 (GRCm39) S281* probably null Het
Syne1 A T 10: 5,296,859 (GRCm39) S1201T probably damaging Het
Tex15 C A 8: 34,064,758 (GRCm39) T1396K possibly damaging Het
Zswim8 G T 14: 20,764,641 (GRCm39) probably null 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
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
(F):5'- CTCATTTTCTTAGACTCCCAGACAG -3'
(R):5'- AGGTTGATCCTAAGTGACCAGC -3'

Sequencing Primer
(F):5'- TTTCTTAGACTCCCAGACAGTAAAAC -3'
(R):5'- TTGATCCTAAGTGACCAGCTAGAAG -3'
Posted On 2019-05-13