Incidental Mutation 'R9400:Acer1'
ID 711080
Institutional Source Beutler Lab
Gene Symbol Acer1
Ensembl Gene ENSMUSG00000045019
Gene Name alkaline ceramidase 1
Synonyms Cer1, 2310024P18Rik, Asah3
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9400 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 57260490-57289126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57288990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 40 (T40M)
Ref Sequence ENSEMBL: ENSMUSP00000062037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056113]
AlphaFold Q8R4X1
Predicted Effect probably damaging
Transcript: ENSMUST00000056113
AA Change: T40M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062037
Gene: ENSMUSG00000045019
AA Change: T40M

DomainStartEndE-ValueType
Pfam:Ceramidase 12 264 5.4e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele show increased ceramide levels, hair shaft abnormalities, cyclic alopecia, epidermal hyperplasia, sebaceous gland and infundibulum expansion, increased epidermal water loss, and hypermetabolism along with decreased body weight and adipose tissue depots during aging. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A G 17: 9,211,118 (GRCm39) N89S probably benign Het
9930111J21Rik1 C T 11: 48,839,244 (GRCm39) E448K possibly damaging Het
Adam1a T C 5: 121,657,893 (GRCm39) T467A probably benign Het
Agmat A G 4: 141,476,981 (GRCm39) D129G probably damaging Het
Ak8 T A 2: 28,650,011 (GRCm39) I346N probably benign Het
Ankrd12 A T 17: 66,291,875 (GRCm39) V1186E probably damaging Het
Ankrd27 T G 7: 35,316,282 (GRCm39) L516R probably damaging Het
Aplp2 C A 9: 31,075,855 (GRCm39) R402L possibly damaging Het
Aspm A G 1: 139,407,641 (GRCm39) Y2176C probably damaging Het
Boc T C 16: 44,319,844 (GRCm39) D380G Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Chst2 T C 9: 95,287,642 (GRCm39) S235G probably benign Het
Clca4b A G 3: 144,616,953 (GRCm39) V899A probably benign Het
Ddx1 A G 12: 13,273,703 (GRCm39) S617P probably damaging Het
Etv5 A T 16: 22,220,476 (GRCm39) F304I probably benign Het
Fmo9 T G 1: 166,505,243 (GRCm39) E50A probably benign Het
Gbp11 T C 5: 105,478,841 (GRCm39) E199G probably damaging Het
Gemin5 C T 11: 58,028,541 (GRCm39) G893D probably damaging Het
Gorab G T 1: 163,224,567 (GRCm39) P78Q probably damaging Het
Gprc5a A G 6: 135,055,558 (GRCm39) T2A probably benign Het
Gtf3c1 A G 7: 125,275,683 (GRCm39) I581T probably damaging Het
H6pd A G 4: 150,080,248 (GRCm39) F199S probably damaging Het
Hdac3 A T 18: 38,070,677 (GRCm39) V426E possibly damaging Het
Jag2 G T 12: 112,875,608 (GRCm39) Y838* probably null Het
Kat6b G T 14: 21,659,826 (GRCm39) R210L probably damaging Het
Kctd11 C A 11: 69,770,544 (GRCm39) E165* probably null Het
Knl1 T C 2: 118,931,224 (GRCm39) V1980A probably damaging Het
Lilrb4b T C 10: 51,357,319 (GRCm39) S52P probably benign Het
Lrp5 T G 19: 3,635,272 (GRCm39) M1535L probably benign Het
Lrr1 A G 12: 69,221,476 (GRCm39) D206G probably benign Het
Lrrd1 G A 5: 3,899,677 (GRCm39) probably benign Het
Map3k6 C A 4: 132,968,467 (GRCm39) A23E probably damaging Het
Mgat4a T C 1: 37,502,025 (GRCm39) D241G probably damaging Het
Mpzl3 A G 9: 44,986,077 (GRCm39) Y237C possibly damaging Het
Mroh1 A G 15: 76,336,093 (GRCm39) E1489G possibly damaging Het
Myocd T C 11: 65,086,934 (GRCm39) H331R probably benign Het
Myoz1 T A 14: 20,699,504 (GRCm39) H278L probably benign Het
Or12d2 A T 17: 37,624,554 (GRCm39) C240* probably null Het
Or1e22 A T 11: 73,376,807 (GRCm39) V281E probably damaging Het
Or4c104 A G 2: 88,586,293 (GRCm39) I242T possibly damaging Het
Or5a3 C A 19: 12,400,274 (GRCm39) N200K possibly damaging Het
Or5b102 T A 19: 13,041,139 (GRCm39) Y121* probably null Het
Or5b24 T A 19: 12,912,878 (GRCm39) Y259N probably damaging Het
Otof A T 5: 30,540,863 (GRCm39) probably null Het
Pcdha1 A G 18: 37,064,760 (GRCm39) I475V probably benign Het
Pcgf1 A G 6: 83,057,066 (GRCm39) E199G possibly damaging Het
Pip C A 6: 41,828,782 (GRCm39) T109K probably benign Het
Slc12a7 A G 13: 73,932,689 (GRCm39) E59G probably benign Het
Slc38a2 T C 15: 96,591,053 (GRCm39) I237V probably benign Het
Slc6a5 T C 7: 49,595,267 (GRCm39) V543A probably benign Het
Slc9a2 T C 1: 40,758,211 (GRCm39) V250A possibly damaging Het
Smarcad1 T C 6: 65,050,214 (GRCm39) Y278H probably damaging Het
Snx7 A T 3: 117,630,863 (GRCm39) N248K probably benign Het
Spata6 T A 4: 111,577,428 (GRCm39) C9S probably benign Het
Stra6l T A 4: 45,885,293 (GRCm39) L587Q probably damaging Het
Tmem131l G T 3: 83,830,293 (GRCm39) N916K possibly damaging Het
Tmprss11c C T 5: 86,385,516 (GRCm39) V319I probably benign Het
Tpo A T 12: 30,169,441 (GRCm39) I98K possibly damaging Het
Umodl1 A G 17: 31,215,367 (GRCm39) T1064A probably damaging Het
Vldlr T C 19: 27,216,175 (GRCm39) I332T probably damaging Het
Wdr75 T A 1: 45,843,064 (GRCm39) L133Q probably damaging Het
Zdhhc21 T C 4: 82,753,687 (GRCm39) N167S probably benign Het
Zfp37 A T 4: 62,109,904 (GRCm39) C428S probably damaging Het
Other mutations in Acer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0047:Acer1 UTSW 17 57,262,624 (GRCm39) missense possibly damaging 0.65
R0047:Acer1 UTSW 17 57,262,624 (GRCm39) missense possibly damaging 0.65
R0517:Acer1 UTSW 17 57,262,569 (GRCm39) missense probably benign 0.04
R2200:Acer1 UTSW 17 57,265,423 (GRCm39) missense probably benign 0.01
R3110:Acer1 UTSW 17 57,265,406 (GRCm39) missense probably damaging 1.00
R3112:Acer1 UTSW 17 57,265,406 (GRCm39) missense probably damaging 1.00
R3776:Acer1 UTSW 17 57,262,111 (GRCm39) missense probably damaging 0.98
R5364:Acer1 UTSW 17 57,289,000 (GRCm39) missense probably damaging 0.98
R6236:Acer1 UTSW 17 57,262,231 (GRCm39) missense probably benign 0.19
R9310:Acer1 UTSW 17 57,262,598 (GRCm39) missense probably damaging 0.99
RF001:Acer1 UTSW 17 57,265,909 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- ACCCTGCCATGGATTTCAGTTC -3'
(R):5'- AGGCTACCCTGGTGCAATAG -3'

Sequencing Primer
(F):5'- GCCATGGATTTCAGTTCTACAGGAAG -3'
(R):5'- CTGGTGCAATAGGGAGCCAC -3'
Posted On 2022-04-20