Incidental Mutation 'R4083:Asah2'
| ID |
316995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asah2
|
| Ensembl Gene |
ENSMUSG00000024887 |
| Gene Name |
N-acylsphingosine amidohydrolase 2 |
| Synonyms |
neutral/alkaline ceramidase |
| MMRRC Submission |
040978-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R4083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31964184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 749
(S749P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096119
AA Change: S749P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: S749P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (31/32) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc159 |
T |
C |
9: 21,840,699 (GRCm39) |
S89P |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,886,042 (GRCm39) |
S326T |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,396,344 (GRCm39) |
T124M |
possibly damaging |
Het |
| Fmod |
A |
T |
1: 133,968,043 (GRCm39) |
I28F |
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,055,047 (GRCm39) |
|
noncoding transcript |
Het |
| Grm3 |
T |
G |
5: 9,562,054 (GRCm39) |
I599L |
probably benign |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Hsd17b11 |
A |
T |
5: 104,138,434 (GRCm39) |
V280D |
possibly damaging |
Het |
| Igkv8-26 |
G |
T |
6: 70,170,547 (GRCm39) |
S46I |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,129,748 (GRCm39) |
E476G |
probably damaging |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,681,320 (GRCm39) |
N437K |
probably benign |
Het |
| Mterf4 |
A |
C |
1: 93,232,380 (GRCm39) |
M157R |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,524,192 (GRCm39) |
W1683R |
probably damaging |
Het |
| Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
| Or14j10 |
T |
G |
17: 37,935,316 (GRCm39) |
D70A |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,851 (GRCm39) |
P58T |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab27a |
G |
T |
9: 72,989,721 (GRCm39) |
R64L |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,065 (GRCm39) |
L167Q |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,621,595 (GRCm39) |
V989A |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,516,071 (GRCm39) |
V330A |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,831,662 (GRCm39) |
M351T |
probably benign |
Het |
| Trav7d-3 |
C |
A |
14: 52,982,212 (GRCm39) |
H84Q |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTTAGCATGCATACTCATAATC -3'
(R):5'- AGGTAAGAGCTTGCATTCAGG -3'
Sequencing Primer
(F):5'- AGCATGCATACTCATAATCATACAAC -3'
(R):5'- AGCTTGCATTCAGGATTAAAAATTAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation