Incidental Mutation 'R5644:Asah1'
ID 440968
Institutional Source Beutler Lab
Gene Symbol Asah1
Ensembl Gene ENSMUSG00000031591
Gene Name N-acylsphingosine amidohydrolase 1
Synonyms 2310081N20Rik, acid ceramidase
MMRRC Submission 043292-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5644 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 41793234-41827810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 41813332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 27 (T27K)
Ref Sequence ENSEMBL: ENSMUSP00000034000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034000] [ENSMUST00000110417] [ENSMUST00000143057]
AlphaFold Q9WV54
Predicted Effect possibly damaging
Transcript: ENSMUST00000034000
AA Change: T27K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591
AA Change: T27K

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 unknown
Transcript: ENSMUST00000110417
AA Change: D28E
SMART Domains Protein: ENSMUSP00000106047
Gene: ENSMUSG00000031591
AA Change: D28E

Pfam:NAAA-beta 24 118 8.8e-39 PFAM
Pfam:CBAH 122 216 7.9e-24 PFAM
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
Meta Mutation Damage Score 0.1527 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A T 10: 14,308,678 (GRCm39) D805E probably damaging Het
Adrb2 A T 18: 62,311,753 (GRCm39) N357K probably benign Het
Ahnak A G 19: 8,988,021 (GRCm39) K3102E possibly damaging Het
Alkal2 T A 12: 30,934,889 (GRCm39) L36Q probably damaging Het
Alkbh8 G T 9: 3,385,384 (GRCm39) V559F probably damaging Het
Apba2 A G 7: 64,365,259 (GRCm39) T346A probably benign Het
Arhgap10 C T 8: 78,137,684 (GRCm39) M302I probably benign Het
Bag2 A G 1: 33,786,034 (GRCm39) V96A probably damaging Het
Bicd1 C T 6: 149,421,901 (GRCm39) A874V probably damaging Het
C4b T C 17: 34,961,391 (GRCm39) I189M probably benign Het
Cacna1a A G 8: 85,189,406 (GRCm39) Y119C probably damaging Het
Calcr A G 6: 3,708,538 (GRCm39) I216T probably damaging Het
Ccar1 T C 10: 62,607,757 (GRCm39) N302S probably benign Het
Ccdc93 A G 1: 121,411,065 (GRCm39) H446R probably benign Het
Cct6b A T 11: 82,613,281 (GRCm39) L420Q probably benign Het
Cemip T C 7: 83,638,392 (GRCm39) T273A probably benign Het
Cep128 A T 12: 91,315,625 (GRCm39) I87K probably damaging Het
Cfap221 A G 1: 119,860,532 (GRCm39) L698P probably damaging Het
Cfap43 T A 19: 47,784,114 (GRCm39) N473I possibly damaging Het
Clec12b T A 6: 129,356,923 (GRCm39) I172L probably benign Het
Cntnap5b A C 1: 100,311,326 (GRCm39) E606D probably benign Het
Cyp2c67 A C 19: 39,604,138 (GRCm39) V406G possibly damaging Het
Dhx57 T C 17: 80,546,302 (GRCm39) I1308V possibly damaging Het
Dnah7a A T 1: 53,580,138 (GRCm39) M1599K probably benign Het
Dnajc21 A T 15: 10,462,001 (GRCm39) D133E probably benign Het
Dpp8 G A 9: 64,953,017 (GRCm39) W231* probably null Het
Dvl3 T A 16: 20,345,026 (GRCm39) I353N probably damaging Het
Fgd6 T A 10: 93,969,912 (GRCm39) I1187N possibly damaging Het
Fn1 A T 1: 71,666,409 (GRCm39) Y875N probably damaging Het
Gaa T A 11: 119,171,361 (GRCm39) M671K possibly damaging Het
Gm11939 T C 11: 99,450,138 (GRCm39) D52G probably damaging Het
Gm14403 A T 2: 177,199,054 (GRCm39) H50L possibly damaging Het
Gpam A T 19: 55,077,331 (GRCm39) D153E probably benign Het
Gzma T C 13: 113,234,794 (GRCm39) T66A probably damaging Het
Hnmt A T 2: 23,904,251 (GRCm39) W137R probably damaging Het
Hsd17b7 A T 1: 169,783,517 (GRCm39) V297D probably damaging Het
Ighv1-85 A T 12: 115,963,680 (GRCm39) S107T possibly damaging Het
Kif12 T A 4: 63,084,130 (GRCm39) Q624L possibly damaging Het
Kif1b T C 4: 149,322,939 (GRCm39) D660G probably damaging Het
Klf13 T C 7: 63,541,308 (GRCm39) probably benign Het
Klhl41 A G 2: 69,500,815 (GRCm39) Y92C probably damaging Het
Klrc2 A T 6: 129,633,420 (GRCm39) C186S probably damaging Het
Lao1 T A 4: 118,822,433 (GRCm39) probably null Het
Lmo7 A G 14: 102,166,772 (GRCm39) probably benign Het
Lyst A T 13: 13,812,081 (GRCm39) Q831L possibly damaging Het
Lzts1 A G 8: 69,591,729 (GRCm39) S140P possibly damaging Het
Man2b1 T A 8: 85,820,839 (GRCm39) I679N possibly damaging Het
Mgat5b T A 11: 116,864,226 (GRCm39) V464E probably damaging Het
Mrgprb5 G A 7: 47,817,955 (GRCm39) T260I probably benign Het
Mybpc2 T C 7: 44,156,477 (GRCm39) T825A probably benign Het
Mycbp2 T A 14: 103,524,770 (GRCm39) K597I probably damaging Het
Naalad2 G T 9: 18,246,227 (GRCm39) N568K possibly damaging Het
Neurl1a A G 19: 47,167,916 (GRCm39) N4S probably benign Het
Nfx1 T C 4: 40,984,973 (GRCm39) W366R probably null Het
Nipbl C T 15: 8,388,391 (GRCm39) V410I probably benign Het
Nlrp9a A T 7: 26,257,993 (GRCm39) H537L possibly damaging Het
Nxpe4 A G 9: 48,304,050 (GRCm39) N46D probably benign Het
Or14j10 T A 17: 37,935,323 (GRCm39) I68F probably benign Het
Or4c101 T A 2: 88,389,849 (GRCm39) M1K probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or5ae1 C A 7: 84,565,327 (GRCm39) F113L probably benign Het
Or5b95 A T 19: 12,658,336 (GRCm39) Y288F probably damaging Het
Or5p58 A T 7: 107,694,011 (GRCm39) Y255* probably null Het
Or5p60 A G 7: 107,723,858 (GRCm39) F204S probably benign Het
Or6c2 A T 10: 129,362,972 (GRCm39) N292I probably damaging Het
Or6c76b T A 10: 129,693,296 (GRCm39) V303E probably benign Het
Or8u10 T C 2: 85,915,503 (GRCm39) N206S probably damaging Het
P2ry12 A T 3: 59,125,516 (GRCm39) M53K possibly damaging Het
Pcca G A 14: 123,124,481 (GRCm39) C684Y probably damaging Het
Pdzd7 A G 19: 45,028,619 (GRCm39) S175P probably benign Het
Pgbd1 A G 13: 21,607,322 (GRCm39) C291R probably damaging Het
Plekhg5 T C 4: 152,188,797 (GRCm39) V200A probably benign Het
Pola2 A G 19: 6,011,198 (GRCm39) V42A probably benign Het
Pramel16 C T 4: 143,675,374 (GRCm39) G484D probably benign Het
Prkcd C A 14: 30,329,370 (GRCm39) K23N probably benign Het
Ptdss1 T C 13: 67,120,604 (GRCm39) F267L probably damaging Het
Rad54l C T 4: 115,956,144 (GRCm39) S561N probably benign Het
Rai14 T A 15: 10,593,137 (GRCm39) H169L probably benign Het
Rfc3 C T 5: 151,573,444 (GRCm39) V40I probably benign Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Rtl1 C T 12: 109,558,013 (GRCm39) M1275I probably benign Het
Ryr2 C A 13: 11,610,468 (GRCm39) E4119D probably damaging Het
Senp7 T C 16: 56,004,512 (GRCm39) silent Het
Sfmbt2 A T 2: 10,573,184 (GRCm39) I571F probably damaging Het
Sit1 T A 4: 43,483,562 (GRCm39) T8S probably benign Het
Slc22a30 T C 19: 8,381,980 (GRCm39) H97R possibly damaging Het
Slco1a5 A C 6: 142,183,320 (GRCm39) probably null Het
Smc6 T A 12: 11,339,995 (GRCm39) N434K probably benign Het
Snap91 G T 9: 86,672,206 (GRCm39) probably null Het
Srsf10 T C 4: 135,591,131 (GRCm39) S194P possibly damaging Het
St14 T C 9: 31,017,806 (GRCm39) M205V probably benign Het
Syndig1 A T 2: 149,741,428 (GRCm39) I5F possibly damaging Het
Tbrg1 T C 9: 37,560,709 (GRCm39) D389G probably benign Het
Tcaf2 G A 6: 42,619,707 (GRCm39) R107C possibly damaging Het
Tpmt T A 13: 47,182,435 (GRCm39) D163V probably benign Het
Trim15 T C 17: 37,177,713 (GRCm39) E94G probably damaging Het
Trit1 T C 4: 122,942,965 (GRCm39) I279T probably damaging Het
Trpm8 T A 1: 88,287,461 (GRCm39) F815I possibly damaging Het
Ttn T A 2: 76,768,867 (GRCm39) T2856S probably damaging Het
Ugdh A T 5: 65,574,204 (GRCm39) D446E probably benign Het
Unc5c C T 3: 141,383,886 (GRCm39) A88V probably damaging Het
Vmn1r43 T C 6: 89,847,354 (GRCm39) N44S probably damaging Het
Vmn2r120 T A 17: 57,831,977 (GRCm39) M271L probably benign Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp607b T C 7: 27,403,194 (GRCm39) L550P 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
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
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 2016-11-08