Incidental Mutation 'R1977:Asah1'
ID 221864
Institutional Source Beutler Lab
Gene Symbol Asah1
Ensembl Gene ENSMUSG00000031591
Gene Name N-acylsphingosine amidohydrolase 1
Synonyms 2310081N20Rik, acid ceramidase
MMRRC Submission 039990-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1977 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41793234-41827810 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 41796554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034000] [ENSMUST00000034000] [ENSMUST00000110417]
AlphaFold Q9WV54
Predicted Effect probably null
Transcript: ENSMUST00000034000
SMART Domains Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591

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 null
Transcript: ENSMUST00000034000
SMART Domains Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131796
Meta Mutation Damage Score 0.9589 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 99% (66/67)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 123,508,272 (GRCm39) C256F probably damaging Het
Adgra2 T A 8: 27,605,789 (GRCm39) V647D possibly damaging Het
AI593442 A T 9: 52,589,492 (GRCm39) S28R probably damaging Het
Akr1c21 G C 13: 4,624,211 (GRCm39) G22R probably damaging Het
Ampd3 T C 7: 110,402,369 (GRCm39) W458R probably damaging Het
Arhgap23 G T 11: 97,342,273 (GRCm39) R185L possibly damaging Het
Arhgap45 A T 10: 79,856,652 (GRCm39) I67F probably damaging Het
Atl2 A G 17: 80,160,019 (GRCm39) Y56H probably damaging Het
Carf A T 1: 60,185,295 (GRCm39) I447F probably damaging Het
Crmp1 A G 5: 37,433,627 (GRCm39) N162S probably damaging Het
Cyp2a5 A G 7: 26,535,347 (GRCm39) E103G probably benign Het
Cyp2c40 T C 19: 39,766,485 (GRCm39) D370G probably damaging Het
Dhrs2 T A 14: 55,472,112 (GRCm39) M1K probably null Het
Dnah17 T C 11: 118,003,417 (GRCm39) E810G possibly damaging Het
E2f5 T A 3: 14,652,416 (GRCm39) I84N probably damaging Het
Eif2ak4 A T 2: 118,292,238 (GRCm39) K1185* probably null Het
Eif4ebp1 T A 8: 27,765,129 (GRCm39) M115K probably damaging Het
Evi5 A T 5: 107,947,005 (GRCm39) L505* probably null Het
Fbxw25 T A 9: 109,481,924 (GRCm39) Y254F possibly damaging Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gps1 A G 11: 120,676,652 (GRCm39) T124A probably damaging Het
Hopx T C 5: 77,265,463 (GRCm39) probably benign Het
Hoxd3 A G 2: 74,574,620 (GRCm39) S89G possibly damaging Het
Hrc A T 7: 44,985,638 (GRCm39) D263V probably damaging Het
Hs6st3 T C 14: 119,375,888 (GRCm39) I21T probably benign Het
Izumo4 A G 10: 80,538,955 (GRCm39) Y106C probably damaging Het
Lama2 A T 10: 26,866,796 (GRCm39) probably null Het
Lcorl A C 5: 45,932,762 (GRCm39) S123R probably null Het
Lgr4 A T 2: 109,842,273 (GRCm39) I729F probably damaging Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Matn3 T A 12: 9,011,110 (GRCm39) probably benign Het
Mdc1 T A 17: 36,161,822 (GRCm39) S912T probably benign Het
Mgam G A 6: 40,641,814 (GRCm39) V556I probably benign Het
Myom2 A T 8: 15,135,263 (GRCm39) I489F possibly damaging Het
Nfatc2 G A 2: 168,346,379 (GRCm39) T905I possibly damaging Het
Nme6 G A 9: 109,664,409 (GRCm39) R6Q probably damaging Het
Nr1h5 A G 3: 102,855,133 (GRCm39) S323P probably damaging Het
Nr4a3 C A 4: 48,056,539 (GRCm39) R364S probably damaging Het
Obox7 A T 7: 14,398,323 (GRCm39) D79V probably damaging Het
Or1ab2 G A 8: 72,863,698 (GRCm39) G96D probably benign Het
Or2a51 T A 6: 43,178,914 (GRCm39) V112D possibly damaging Het
Or2l5 G A 16: 19,333,586 (GRCm39) P267S probably damaging Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Parp8 T A 13: 117,047,449 (GRCm39) I208F probably damaging Het
Pdgfc C T 3: 81,116,552 (GRCm39) T302I probably damaging Het
Pnpt1 A G 11: 29,091,256 (GRCm39) I337V probably benign Het
Polk T C 13: 96,625,736 (GRCm39) E436G probably damaging Het
Pramel7 A G 2: 87,321,465 (GRCm39) V190A probably benign Het
Rplp2 T C 7: 141,028,694 (GRCm39) probably benign Het
Sec23ip T A 7: 128,367,997 (GRCm39) S670T probably damaging Het
Sgk2 A G 2: 162,846,080 (GRCm39) N207S probably benign Het
Sh2d2a C T 3: 87,759,123 (GRCm39) Q242* probably null Het
Sh3pxd2b A C 11: 32,372,138 (GRCm39) N435T probably damaging Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Stx17 G A 4: 48,181,553 (GRCm39) V241M probably benign Het
Taok3 A T 5: 117,403,989 (GRCm39) K721N probably damaging Het
Tbxas1 A G 6: 38,925,575 (GRCm39) probably benign Het
Tmem87a G A 2: 120,204,985 (GRCm39) A377V probably benign Het
Topaz1 C T 9: 122,576,427 (GRCm39) T6M unknown Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Vmn2r125 A G 4: 156,707,162 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Wdr59 A T 8: 112,185,270 (GRCm39) C888S 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
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
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'- GCTGGAAACAAAGGTGACTATTC -3'
(R):5'- GAACCCAGGCCAATGTGAAG -3'

Sequencing Primer
(F):5'- TGCCTGACATTAACTTAAGGAGG -3'
(R):5'- CCAGGCCAATGTGAAGCCTAAG -3'
Posted On 2014-08-25