Incidental Mutation 'IGL03233:Asah2'
| ID |
413974 |
| 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: 0.433)
|
| Stock # |
IGL03233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32032031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 46
(N46I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096119
AA Change: N46I
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: N46I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| 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 |
|---|
| Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
| Atg4c |
A |
T |
4: 99,117,740 (GRCm39) |
Y343F |
probably benign |
Het |
| Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
| Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,316,167 (GRCm39) |
T298S |
probably benign |
Het |
| Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
| Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
| Gpr108 |
T |
A |
17: 57,552,042 (GRCm39) |
I123F |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,833,735 (GRCm39) |
I489F |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,935,352 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
| Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
| Nsun5 |
G |
A |
5: 135,404,299 (GRCm39) |
V369M |
probably damaging |
Het |
| Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
| Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
| Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
| Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
| Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,567 (GRCm39) |
Q515R |
possibly damaging |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation