Incidental Mutation 'R5643:Asah1'
ID 440864
Institutional Source Beutler Lab
Gene Symbol Asah1
Ensembl Gene ENSMUSG00000031591
Gene Name N-acylsphingosine amidohydrolase 1
Synonyms 2310081N20Rik, acid ceramidase
MMRRC Submission 043291-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5643 (G1)
Quality Score 225
Status 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: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (110/117)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,021 (GRCm39) K3102E possibly damaging Het
Akap13 T C 7: 75,351,902 (GRCm39) probably null Het
Akp3 A T 1: 87,055,485 (GRCm39) T511S unknown Het
Alkal2 T A 12: 30,934,889 (GRCm39) L36Q probably damaging Het
Arhgef17 A T 7: 100,529,218 (GRCm39) V523E probably damaging 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
Calcr A G 6: 3,708,538 (GRCm39) I216T probably damaging Het
Cdk5rap2 T A 4: 70,184,970 (GRCm39) D1160V probably damaging Het
Cep128 A T 12: 91,315,625 (GRCm39) I87K probably damaging Het
Cep170b C G 12: 112,707,275 (GRCm39) H1256Q probably benign Het
Chd2 A T 7: 73,134,232 (GRCm39) V705E probably damaging Het
Clec12b T A 6: 129,356,923 (GRCm39) I172L probably benign Het
Cobl A T 11: 12,256,948 (GRCm39) probably benign Het
Col5a2 T A 1: 45,429,202 (GRCm39) D972V probably damaging Het
Csrp1 A T 1: 135,678,797 (GRCm39) N174I probably damaging Het
Dnah7a T A 1: 53,444,866 (GRCm39) H3946L probably benign Het
Dnajc21 A T 15: 10,462,001 (GRCm39) D133E probably benign Het
Dvl3 T A 16: 20,345,026 (GRCm39) I353N probably damaging Het
Elavl3 A T 9: 21,930,029 (GRCm39) S292T probably benign Het
Ephb2 T C 4: 136,498,923 (GRCm39) N52S probably damaging Het
Gaa T A 11: 119,171,361 (GRCm39) M671K possibly damaging Het
Gabrg3 T C 7: 56,423,032 (GRCm39) D222G possibly damaging Het
Gk5 C T 9: 96,022,709 (GRCm39) Q182* probably null Het
Gm14403 A T 2: 177,199,054 (GRCm39) H50L possibly damaging Het
Gzma T C 13: 113,234,794 (GRCm39) T66A probably damaging Het
Hint2 T C 4: 43,656,445 (GRCm39) probably benign Het
Hnmt A T 2: 23,904,251 (GRCm39) W137R probably damaging Het
Hoga1 T C 19: 42,048,402 (GRCm39) V90A probably benign Het
Idua A T 5: 108,828,090 (GRCm39) probably benign Het
Kif1a A C 1: 92,983,489 (GRCm39) S669R probably damaging Het
Klhdc7b A T 15: 89,271,862 (GRCm39) M915L possibly damaging 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
Lmo7 A G 14: 102,166,772 (GRCm39) probably benign Het
Lrriq1 T C 10: 103,051,301 (GRCm39) M484V probably benign Het
Lzts1 A G 8: 69,591,729 (GRCm39) S140P possibly damaging Het
Mgat5b T A 11: 116,864,226 (GRCm39) V464E probably damaging Het
Mms19 A T 19: 41,944,305 (GRCm39) D298E possibly damaging Het
Muc5ac T C 7: 141,347,452 (GRCm39) probably null Het
Mycbp2 T A 14: 103,524,770 (GRCm39) K597I probably damaging Het
Myo18a C A 11: 77,745,513 (GRCm39) D1619E 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
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
Or52h1 T C 7: 103,829,091 (GRCm39) I175V probably benign Het
Or5b95 A T 19: 12,658,336 (GRCm39) Y288F probably damaging Het
Or7g32 A T 9: 19,388,853 (GRCm39) M231K probably benign Het
Or8u10 T C 2: 85,915,503 (GRCm39) N206S probably damaging Het
Otog A T 7: 45,936,871 (GRCm39) T1527S probably damaging Het
P2ry12 A T 3: 59,125,516 (GRCm39) M53K possibly damaging Het
Pask A G 1: 93,265,065 (GRCm39) probably null Het
Pcca G A 14: 123,124,481 (GRCm39) C684Y probably damaging Het
Pcdhb10 A G 18: 37,546,219 (GRCm39) T432A possibly damaging Het
Peak1 T C 9: 56,166,039 (GRCm39) N630D probably damaging Het
Plbd2 A T 5: 120,631,231 (GRCm39) probably null 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
Ppfibp2 T A 7: 107,337,097 (GRCm39) W572R probably damaging Het
Ppp6r1 C T 7: 4,636,771 (GRCm39) E679K probably benign Het
Pramel11 A T 4: 143,622,337 (GRCm39) H339Q probably damaging Het
Prdx3 G A 19: 60,859,963 (GRCm39) A70V probably damaging Het
Prkd2 T C 7: 16,577,717 (GRCm39) F57L probably benign Het
Prodh2 A G 7: 30,206,171 (GRCm39) T324A possibly damaging Het
Ptdss1 T C 13: 67,120,604 (GRCm39) F267L probably damaging Het
Rai14 T A 15: 10,593,137 (GRCm39) H169L probably benign Het
Rere A G 4: 150,701,700 (GRCm39) H1360R probably damaging Het
Rfc3 C T 5: 151,573,444 (GRCm39) V40I probably benign Het
Rims1 T A 1: 22,577,590 (GRCm39) T219S probably damaging Het
Rnf169 T C 7: 99,576,338 (GRCm39) R289G possibly damaging Het
Senp7 T C 16: 56,004,512 (GRCm39) silent Het
Sfmbt2 A T 2: 10,573,184 (GRCm39) I571F probably damaging Het
Slc11a2 C A 15: 100,301,068 (GRCm39) K328N probably benign Het
Slc25a10 A G 11: 120,387,202 (GRCm39) probably benign Het
Slc38a8 T C 8: 120,207,488 (GRCm39) *433W probably null Het
Slco1a5 A C 6: 142,183,320 (GRCm39) probably null Het
Smc6 T A 12: 11,339,995 (GRCm39) N434K probably benign Het
Syndig1 A T 2: 149,741,428 (GRCm39) I5F possibly damaging Het
Syt5 T C 7: 4,546,018 (GRCm39) Q124R probably benign Het
Taok3 A C 5: 117,344,785 (GRCm39) M171L probably benign 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
Tex14 C A 11: 87,426,452 (GRCm39) H1159Q probably damaging Het
Tmprss11d T A 5: 86,474,388 (GRCm39) M190L probably benign Het
Ttn T A 2: 76,768,867 (GRCm39) T2856S probably damaging Het
Ubr4 T A 4: 139,171,998 (GRCm39) M2997K probably damaging Het
Unc5c C T 3: 141,383,886 (GRCm39) A88V probably damaging Het
Use1 T C 8: 71,820,398 (GRCm39) probably benign Het
Vmn1r43 T C 6: 89,847,354 (GRCm39) N44S probably damaging Het
Vmn1r89 T A 7: 12,954,146 (GRCm39) V294D possibly damaging Het
Vmn2r11 A T 5: 109,194,869 (GRCm39) V819E probably damaging Het
Vmn2r120 T A 17: 57,831,977 (GRCm39) M271L probably benign Het
Vmn2r52 T C 7: 9,905,059 (GRCm39) Y260C probably damaging Het
Vmn2r67 T A 7: 84,799,151 (GRCm39) R519* probably null Het
Vmn2r69 T A 7: 85,056,404 (GRCm39) D578V probably damaging Het
Vmn2r85 T C 10: 130,262,343 (GRCm39) Y132C probably damaging Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp318 T A 17: 46,720,170 (GRCm39) probably benign Het
Zfp810 A T 9: 22,194,467 (GRCm39) S74T 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
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
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 2016-11-08