Incidental Mutation 'IGL01108:Asah2'
ID 53256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene Name N-acylsphingosine amidohydrolase 2
Synonyms neutral/alkaline ceramidase
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # IGL01108
Quality Score
Status
Chromosome 19
Chromosomal Location 31962046-32080540 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 31986081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect probably benign
Transcript: ENSMUST00000096119
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 56 67 N/A INTRINSIC
Pfam:Ceramidase_alk 78 584 1.4e-222 PFAM
Pfam:Ceramidse_alk_C 586 753 8e-50 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are defective in the intestinal digestion of dietary ceramide but exhibit a normal life span with no obvious abnormalities or significant alterations in total ceramide levels in major organ tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1a A G 12: 54,963,516 (GRCm39) I856T probably benign Het
Cblb T A 16: 51,867,814 (GRCm39) probably null Het
Cpq A G 15: 33,497,433 (GRCm39) Q391R probably benign Het
Dnah9 T A 11: 65,740,806 (GRCm39) T4127S possibly damaging Het
Dync2h1 A G 9: 7,176,771 (GRCm39) S63P possibly damaging Het
Ercc3 T C 18: 32,397,638 (GRCm39) V623A probably damaging Het
Fbxw9 A G 8: 85,792,606 (GRCm39) probably benign Het
Gorasp2 T A 2: 70,508,922 (GRCm39) S133R probably damaging Het
Gtf2h1 G A 7: 46,461,922 (GRCm39) A307T probably damaging Het
Hk1 T C 10: 62,132,487 (GRCm39) K186R probably benign Het
Itga11 A G 9: 62,664,903 (GRCm39) E596G probably benign Het
Kcnj13 T C 1: 87,314,659 (GRCm39) I188V probably benign Het
Klhl18 A T 9: 110,257,754 (GRCm39) M492K probably damaging Het
Mctp2 T C 7: 71,835,563 (GRCm39) T545A probably damaging Het
Mgrn1 G T 16: 4,734,019 (GRCm39) probably null Het
Mideas T C 12: 84,220,465 (GRCm39) E163G probably damaging Het
Olfm4 T C 14: 80,259,339 (GRCm39) V529A probably benign Het
Or13f5 C T 4: 52,825,727 (GRCm39) T110I probably damaging Het
Parp4 T G 14: 56,844,897 (GRCm39) I596S probably benign Het
Plppr3 T A 10: 79,703,355 (GRCm39) D43V probably damaging Het
Prss51 A T 14: 64,333,433 (GRCm39) K14I probably damaging Het
Prss58 A G 6: 40,874,278 (GRCm39) C133R probably damaging Het
Recql5 A T 11: 115,788,007 (GRCm39) N437K probably benign Het
Samd10 A G 2: 181,239,007 (GRCm39) Y135H probably damaging Het
Scnn1b G T 7: 121,513,555 (GRCm39) probably null Het
Serpina7 C T X: 137,983,886 (GRCm39) V58I probably benign Het
Slf1 A T 13: 77,273,594 (GRCm39) probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Urb1 C T 16: 90,589,702 (GRCm39) A360T probably damaging Het
Ush2a G T 1: 188,595,022 (GRCm39) R3818L probably benign Het
Vmn2r57 C T 7: 41,077,008 (GRCm39) R386K probably benign Het
Wnt3a T C 11: 59,147,135 (GRCm39) N184D probably benign Het
Xpc G A 6: 91,469,987 (GRCm39) R746W probably damaging Het
Other mutations in Asah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02001:Asah2 APN 19 32,020,939 (GRCm39) nonsense probably null
IGL02228:Asah2 APN 19 31,994,114 (GRCm39) missense probably benign 0.09
IGL02377:Asah2 APN 19 31,986,814 (GRCm39) missense probably benign 0.30
IGL03070:Asah2 APN 19 31,983,744 (GRCm39) missense probably damaging 1.00
IGL03233:Asah2 APN 19 32,032,031 (GRCm39) missense probably benign 0.18
IGL03244:Asah2 APN 19 31,964,342 (GRCm39) missense probably damaging 1.00
R0008:Asah2 UTSW 19 31,981,131 (GRCm39) nonsense probably null
R0103:Asah2 UTSW 19 31,996,377 (GRCm39) missense probably benign 0.01
R0103:Asah2 UTSW 19 31,996,377 (GRCm39) missense probably benign 0.01
R0302:Asah2 UTSW 19 32,030,356 (GRCm39) missense probably benign 0.01
R0497:Asah2 UTSW 19 32,032,031 (GRCm39) missense probably benign 0.18
R0614:Asah2 UTSW 19 31,994,128 (GRCm39) missense probably damaging 1.00
R0639:Asah2 UTSW 19 31,986,039 (GRCm39) missense probably damaging 0.99
R0715:Asah2 UTSW 19 31,994,176 (GRCm39) missense probably damaging 0.97
R1332:Asah2 UTSW 19 32,022,341 (GRCm39) missense probably damaging 1.00
R1336:Asah2 UTSW 19 32,022,341 (GRCm39) missense probably damaging 1.00
R2045:Asah2 UTSW 19 32,030,356 (GRCm39) missense probably benign 0.01
R2062:Asah2 UTSW 19 32,002,274 (GRCm39) missense probably damaging 0.99
R4083:Asah2 UTSW 19 31,964,184 (GRCm39) missense probably benign 0.01
R4698:Asah2 UTSW 19 32,031,871 (GRCm39) splice site probably null
R4731:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R4732:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R4733:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R4773:Asah2 UTSW 19 32,030,258 (GRCm39) missense probably damaging 1.00
R4930:Asah2 UTSW 19 32,030,306 (GRCm39) missense probably benign 0.35
R5081:Asah2 UTSW 19 31,991,708 (GRCm39) missense probably benign 0.07
R5741:Asah2 UTSW 19 31,986,015 (GRCm39) missense probably damaging 1.00
R5873:Asah2 UTSW 19 31,981,082 (GRCm39) critical splice donor site probably null
R5905:Asah2 UTSW 19 31,993,914 (GRCm39) missense probably damaging 1.00
R6027:Asah2 UTSW 19 32,022,351 (GRCm39) missense probably benign 0.01
R6028:Asah2 UTSW 19 31,993,914 (GRCm39) missense probably damaging 1.00
R6187:Asah2 UTSW 19 32,002,267 (GRCm39) missense probably damaging 0.99
R6667:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R6968:Asah2 UTSW 19 31,989,913 (GRCm39) missense probably benign
R7010:Asah2 UTSW 19 32,031,954 (GRCm39) missense probably benign 0.00
R7404:Asah2 UTSW 19 32,035,254 (GRCm39) missense probably benign 0.13
R7575:Asah2 UTSW 19 31,994,103 (GRCm39) missense probably benign 0.11
R7797:Asah2 UTSW 19 31,999,761 (GRCm39) missense probably damaging 1.00
R8492:Asah2 UTSW 19 31,983,659 (GRCm39) missense probably benign 0.25
R8682:Asah2 UTSW 19 32,030,277 (GRCm39) missense probably damaging 1.00
R8766:Asah2 UTSW 19 32,035,280 (GRCm39) missense possibly damaging 0.46
R8873:Asah2 UTSW 19 32,022,288 (GRCm39) critical splice donor site probably null
R8974:Asah2 UTSW 19 32,030,305 (GRCm39) missense probably benign
R9088:Asah2 UTSW 19 32,030,360 (GRCm39) missense probably damaging 1.00
R9405:Asah2 UTSW 19 31,986,045 (GRCm39) missense possibly damaging 0.82
Posted On 2013-06-21