Incidental Mutation 'IGL03244:Asah2'
| ID |
414338 |
| 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 # |
IGL03244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31964342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 696
(Y696C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096119
AA Change: Y696C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: Y696C
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,756 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,885,211 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,370,292 (GRCm39) |
D112E |
probably damaging |
Het |
| B3gat3 |
T |
C |
19: 8,903,215 (GRCm39) |
Y191H |
probably damaging |
Het |
| Capns2 |
T |
C |
8: 93,628,738 (GRCm39) |
I209T |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,905,479 (GRCm39) |
I303T |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,199,672 (GRCm39) |
S817R |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,729,683 (GRCm39) |
L36* |
probably null |
Het |
| Cers4 |
T |
A |
8: 4,566,878 (GRCm39) |
V60E |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,655,451 (GRCm39) |
Y125H |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,742,489 (GRCm39) |
E497G |
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,864 (GRCm39) |
M575K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,655 (GRCm39) |
V1243E |
probably damaging |
Het |
| Elf2 |
A |
T |
3: 51,165,193 (GRCm39) |
Y270* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,875,429 (GRCm39) |
L844S |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,172,870 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,603 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,653,797 (GRCm39) |
F463L |
probably damaging |
Het |
| H2-M10.2 |
A |
T |
17: 36,596,463 (GRCm39) |
N127K |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,495,140 (GRCm39) |
Y691C |
probably damaging |
Het |
| Mbip |
A |
C |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
| Or9k2 |
T |
A |
10: 129,998,269 (GRCm39) |
K309* |
probably null |
Het |
| Plod1 |
C |
T |
4: 148,007,580 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
G |
8: 47,039,475 (GRCm39) |
W382R |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,840,483 (GRCm39) |
E418G |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,098,341 (GRCm39) |
V460A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,859,329 (GRCm39) |
V460A |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,698,442 (GRCm39) |
H453R |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,112,948 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,234,529 (GRCm39) |
D763V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,167 (GRCm39) |
|
probably benign |
Het |
| Tppp |
G |
T |
13: 74,169,535 (GRCm39) |
V92F |
possibly damaging |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,489 (GRCm39) |
L96F |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,340,435 (GRCm39) |
A13S |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,820,933 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
C |
A |
11: 121,404,513 (GRCm39) |
G121* |
probably null |
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 |
|
IGL03233:Asah2
|
APN |
19 |
32,032,031 (GRCm39) |
missense |
probably benign |
0.18 |
|
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