Incidental Mutation 'IGL02001:Asah2'
| ID |
183046 |
| 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)
|
| Stock # |
IGL02001
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 32020939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 255
(K255*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096119
AA Change: K255*
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: K255*
| Domain | Start | End | E-Value | Type |
|---|
|
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
| Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
| Bclaf1 |
A |
G |
10: 20,198,762 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
T |
C |
2: 153,733,195 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,102,432 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
| Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
| Gprin1 |
T |
C |
13: 54,887,005 (GRCm39) |
E423G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,733 (GRCm39) |
K107I |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
| Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
| Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
| Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
| Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
| Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,185,725 (GRCm39) |
Y310C |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,886 (GRCm39) |
K331R |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
| Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
| Other mutations in Asah2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Asah2
|
APN |
19 |
31,986,081 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation