Incidental Mutation 'R7010:Asah2'
| ID |
544988 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
31984654-32061469 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32054554 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 72
(F72I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096119
AA Change: F72I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: F72I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AL592187.3 |
A |
T |
15: 77,602,597 (GRCm38) |
Y58F |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,253,124 (GRCm38) |
T494A |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 35,908,630 (GRCm38) |
D114G |
probably damaging |
Het |
| Atp6v1e2 |
C |
T |
17: 86,944,345 (GRCm38) |
M208I |
probably benign |
Het |
| Bicd1 |
A |
G |
6: 149,494,615 (GRCm38) |
Y161C |
probably damaging |
Het |
| Camk2g |
T |
C |
14: 20,741,444 (GRCm38) |
S410G |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,900,053 (GRCm38) |
P249L |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,530,991 (GRCm38) |
I237L |
probably benign |
Het |
| Dlat |
T |
A |
9: 50,657,974 (GRCm38) |
K176N |
probably damaging |
Het |
| Dnajc12 |
T |
A |
10: 63,397,280 (GRCm38) |
C67S |
probably benign |
Het |
| Fat1 |
G |
T |
8: 44,953,349 (GRCm38) |
E1046* |
probably null |
Het |
| Gmip |
G |
A |
8: 69,811,400 (GRCm38) |
A137T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,244,184 (GRCm38) |
R47H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,450,300 (GRCm38) |
I62V |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 96,014,811 (GRCm38) |
L512F |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,273,141 (GRCm38) |
T36A |
|
Het |
| Il17rc |
A |
G |
6: 113,479,288 (GRCm38) |
N338S |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,649,978 (GRCm38) |
Y338C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,708 (GRCm38) |
Y137C |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,282,861 (GRCm38) |
|
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,766,056 (GRCm38) |
F41S |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,334,060 (GRCm38) |
H344R |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 14,137,001 (GRCm38) |
I884N |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,293,465 (GRCm38) |
T1387I |
probably damaging |
Het |
| Nrros |
T |
C |
16: 32,143,580 (GRCm38) |
T540A |
probably damaging |
Het |
| Or5p63 |
A |
T |
7: 108,212,142 (GRCm38) |
I129N |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,280,373 (GRCm38) |
Y273H |
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,082,633 (GRCm38) |
V121A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,751,505 (GRCm38) |
V1175M |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,032,313 (GRCm38) |
S196A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,454,571 (GRCm38) |
|
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 (GRCm38) |
P44L |
unknown |
Het |
| Syt7 |
A |
G |
19: 10,417,990 (GRCm38) |
T55A |
probably benign |
Het |
| Tfcp2l1 |
T |
C |
1: 118,653,727 (GRCm38) |
S137P |
probably damaging |
Het |
| Tom1 |
T |
A |
8: 75,051,975 (GRCm38) |
V140D |
probably damaging |
Het |
| Ttc23l |
T |
G |
15: 10,515,138 (GRCm38) |
I385L |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 21,133,971 (GRCm38) |
V53A |
probably damaging |
Het |
| Vmn2r1 |
C |
T |
3: 64,104,725 (GRCm38) |
T669I |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,455,857 (GRCm38) |
L13P |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,628,377 (GRCm38) |
I134T |
probably benign |
Het |
|
| Other mutations in Asah2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Asah2
|
APN |
19 |
32,008,681 (GRCm38) |
splice site |
probably benign |
|
|
IGL02001:Asah2
|
APN |
19 |
32,043,539 (GRCm38) |
nonsense |
probably null |
|
|
IGL02228:Asah2
|
APN |
19 |
32,016,714 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02377:Asah2
|
APN |
19 |
32,009,414 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL03070:Asah2
|
APN |
19 |
32,006,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03233:Asah2
|
APN |
19 |
32,054,631 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03244:Asah2
|
APN |
19 |
31,986,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0008:Asah2
|
UTSW |
19 |
32,003,731 (GRCm38) |
nonsense |
probably null |
|
|
R0103:Asah2
|
UTSW |
19 |
32,018,977 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0103:Asah2
|
UTSW |
19 |
32,018,977 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0302:Asah2
|
UTSW |
19 |
32,052,956 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0497:Asah2
|
UTSW |
19 |
32,054,631 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0614:Asah2
|
UTSW |
19 |
32,016,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0639:Asah2
|
UTSW |
19 |
32,008,639 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0715:Asah2
|
UTSW |
19 |
32,016,776 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1332:Asah2
|
UTSW |
19 |
32,044,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1336:Asah2
|
UTSW |
19 |
32,044,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2045:Asah2
|
UTSW |
19 |
32,052,956 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2062:Asah2
|
UTSW |
19 |
32,024,874 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4083:Asah2
|
UTSW |
19 |
31,986,784 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4698:Asah2
|
UTSW |
19 |
32,054,471 (GRCm38) |
splice site |
probably null |
|
|
R4731:Asah2
|
UTSW |
19 |
31,995,358 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4732:Asah2
|
UTSW |
19 |
31,995,358 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4733:Asah2
|
UTSW |
19 |
31,995,358 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4773:Asah2
|
UTSW |
19 |
32,052,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4930:Asah2
|
UTSW |
19 |
32,052,906 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5081:Asah2
|
UTSW |
19 |
32,014,308 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5741:Asah2
|
UTSW |
19 |
32,008,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5873:Asah2
|
UTSW |
19 |
32,003,682 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5905:Asah2
|
UTSW |
19 |
32,016,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6027:Asah2
|
UTSW |
19 |
32,044,951 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6028:Asah2
|
UTSW |
19 |
32,016,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6187:Asah2
|
UTSW |
19 |
32,024,867 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6667:Asah2
|
UTSW |
19 |
31,995,358 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6968:Asah2
|
UTSW |
19 |
32,012,513 (GRCm38) |
missense |
probably benign |
|
|
R7404:Asah2
|
UTSW |
19 |
32,057,854 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7575:Asah2
|
UTSW |
19 |
32,016,703 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7797:Asah2
|
UTSW |
19 |
32,022,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8492:Asah2
|
UTSW |
19 |
32,006,259 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8682:Asah2
|
UTSW |
19 |
32,052,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8766:Asah2
|
UTSW |
19 |
32,057,880 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8873:Asah2
|
UTSW |
19 |
32,044,888 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8974:Asah2
|
UTSW |
19 |
32,052,905 (GRCm38) |
missense |
probably benign |
|
|
R9088:Asah2
|
UTSW |
19 |
32,052,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9405:Asah2
|
UTSW |
19 |
32,008,645 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACTGAGCAGCAACAATGTTAAC -3'
(R):5'- TCCTTAGGAACTTGAAACTAGGTC -3'
Sequencing Primer
(F):5'- TTAAGGAGCCAAGCGGTT -3'
(R):5'- CTAGGTCTTTAAATGGGATATCAGGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation