Incidental Mutation 'IGL03070:Asah2'
| ID |
417478 |
| 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 # |
IGL03070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31983744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 567
(Y567N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096119
AA Change: Y567N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: Y567N
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
| Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
| Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
| Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
| Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
| Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
| Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
| Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
| Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
| Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
| Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
| Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
| Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
| Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
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 |
|
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 |
2016-08-02 |
Incidental Mutation