Incidental Mutation 'R4002:Asah1'
ID 311309
Institutional Source Beutler Lab
Gene Symbol Asah1
Ensembl Gene ENSMUSG00000031591
Gene Name N-acylsphingosine amidohydrolase 1
Synonyms 2310081N20Rik, acid ceramidase
MMRRC Submission 041609-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4002 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41793234-41827810 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 41801176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034000] [ENSMUST00000110417]
AlphaFold Q9WV54
Predicted Effect probably benign
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (29/30)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,274,964 (GRCm39) N222K possibly damaging Het
Abca13 A T 11: 9,535,415 (GRCm39) M4680L probably benign Het
Adgrv1 GA GAA 13: 81,688,251 (GRCm39) probably null Het
Afdn T C 17: 14,104,179 (GRCm39) S1157P probably damaging Het
Ank1 A G 8: 23,629,479 (GRCm39) T63A probably damaging Het
Cdh18 T A 15: 23,383,048 (GRCm39) L277I possibly damaging Het
Ces3a A T 8: 105,784,093 (GRCm39) D431V probably damaging Het
Dbx1 T C 7: 49,286,265 (GRCm39) S67G probably benign Het
Dmxl2 A G 9: 54,381,116 (GRCm39) probably benign Het
Dnah7a T A 1: 53,670,840 (GRCm39) T471S probably benign Het
Efcab8 A T 2: 153,623,726 (GRCm39) K70N probably benign Het
Grcc10 A T 6: 124,717,933 (GRCm39) M1K probably null Het
Higd2a G C 13: 54,738,540 (GRCm39) C53S probably damaging Het
Kcna4 C T 2: 107,126,259 (GRCm39) P331L probably damaging Het
Keg1 T A 19: 12,696,307 (GRCm39) S164T possibly damaging Het
Ltbp1 T C 17: 75,617,154 (GRCm39) V1031A probably benign Het
Obsl1 G A 1: 75,476,743 (GRCm39) T737I possibly damaging Het
Or10al7 G A 17: 38,365,879 (GRCm39) L193F probably damaging Het
Or7g33 C T 9: 19,449,202 (GRCm39) R8K probably benign Het
Or7g35 T G 9: 19,496,010 (GRCm39) M59R probably damaging Het
Serpinb6d A G 13: 33,854,630 (GRCm39) M202V probably damaging Het
Tcf19 A G 17: 35,826,822 (GRCm39) probably null Het
Tlr11 T C 14: 50,599,984 (GRCm39) F657L probably benign Het
Ttf2 G A 3: 100,855,541 (GRCm39) Q96* probably null Het
Ube2frt G A 12: 36,140,635 (GRCm39) probably benign Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfp810 C T 9: 22,190,188 (GRCm39) C240Y probably damaging 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
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'- CGATACGCCTCCTAAGTGACTG -3'
(R):5'- GCTTGTAACACCAGTTTGAACTTG -3'

Sequencing Primer
(F):5'- TCCTAAGTGACTGAGACGCC -3'
(R):5'- CACCAGTTTGAACTTGTTAAGGC -3'
Posted On 2015-04-29