Incidental Mutation 'R5873:Asah2'
ID |
455351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asah2
|
Ensembl Gene |
ENSMUSG00000024887 |
Gene Name |
N-acylsphingosine amidohydrolase 2 |
Synonyms |
neutral/alkaline ceramidase |
MMRRC Submission |
044080-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.448)
|
Stock # |
R5873 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 31981082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
AlphaFold |
Q9JHE3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000096119
|
SMART Domains |
Protein: ENSMUSP00000093830 Gene: ENSMUSG00000024887
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,630,167 (GRCm39) |
|
probably null |
Het |
4930505A04Rik |
T |
A |
11: 30,376,220 (GRCm39) |
K216* |
probably null |
Het |
5330417H12Rik |
T |
C |
7: 107,223,975 (GRCm39) |
|
probably benign |
Het |
Abcc4 |
G |
T |
14: 118,763,702 (GRCm39) |
D1044E |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,159,282 (GRCm39) |
T656A |
probably benign |
Het |
Ankk1 |
T |
C |
9: 49,327,196 (GRCm39) |
N661S |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,649,142 (GRCm39) |
D377G |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,381 (GRCm39) |
S279P |
probably benign |
Het |
C7 |
A |
G |
15: 5,034,717 (GRCm39) |
V610A |
probably damaging |
Het |
Cacna2d3 |
C |
A |
14: 29,442,891 (GRCm39) |
A48S |
probably benign |
Het |
Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,712,270 (GRCm39) |
Y103C |
unknown |
Het |
Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,309,182 (GRCm39) |
|
probably benign |
Het |
Cox10 |
A |
G |
11: 63,962,512 (GRCm39) |
S110P |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,304,931 (GRCm39) |
Y439C |
probably damaging |
Het |
Crybb2 |
C |
T |
5: 113,213,759 (GRCm39) |
|
probably null |
Het |
Cyp2b23 |
C |
T |
7: 26,374,431 (GRCm39) |
R271H |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,947,723 (GRCm39) |
I3039V |
probably benign |
Het |
Dnpep |
T |
C |
1: 75,291,787 (GRCm39) |
D242G |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,855 (GRCm39) |
N660I |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,061,640 (GRCm39) |
D471G |
probably benign |
Het |
Evpl |
A |
T |
11: 116,125,258 (GRCm39) |
L97H |
probably damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,389,850 (GRCm39) |
I142F |
probably damaging |
Het |
Fry |
C |
A |
5: 150,302,350 (GRCm39) |
P519Q |
probably damaging |
Het |
Gal3st2 |
T |
A |
1: 93,801,472 (GRCm39) |
F92I |
probably benign |
Het |
Galm |
A |
G |
17: 80,445,532 (GRCm39) |
E94G |
probably benign |
Het |
Gfy |
T |
G |
7: 44,827,004 (GRCm39) |
H364P |
probably damaging |
Het |
Helz2 |
A |
G |
2: 180,875,821 (GRCm39) |
S1558P |
possibly damaging |
Het |
Hmmr |
T |
A |
11: 40,598,527 (GRCm39) |
Q600L |
probably damaging |
Het |
Hnrnph3 |
A |
G |
10: 62,855,170 (GRCm39) |
|
probably null |
Het |
Igkv4-90 |
T |
A |
6: 68,784,453 (GRCm39) |
N21I |
probably benign |
Het |
Kpna1 |
A |
G |
16: 35,834,598 (GRCm39) |
|
probably benign |
Het |
Krt28 |
A |
C |
11: 99,257,716 (GRCm39) |
L375R |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,545,936 (GRCm39) |
V578A |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,305,052 (GRCm39) |
|
probably null |
Het |
Matk |
T |
A |
10: 81,095,963 (GRCm39) |
V166E |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,570,113 (GRCm39) |
T391K |
possibly damaging |
Het |
Mybl1 |
T |
A |
1: 9,755,890 (GRCm39) |
T220S |
possibly damaging |
Het |
Nrp1 |
T |
C |
8: 129,194,858 (GRCm39) |
V438A |
probably damaging |
Het |
Or2y6 |
A |
T |
11: 52,104,180 (GRCm39) |
L212Q |
probably damaging |
Het |
Or6p1 |
T |
A |
1: 174,258,348 (GRCm39) |
M118K |
possibly damaging |
Het |
Pdia4 |
A |
T |
6: 47,785,110 (GRCm39) |
W86R |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,016,388 (GRCm39) |
D911V |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,788,804 (GRCm39) |
Q854R |
probably benign |
Het |
Ppl |
A |
G |
16: 4,923,913 (GRCm39) |
|
probably null |
Het |
Ppp1r26 |
A |
G |
2: 28,341,617 (GRCm39) |
T416A |
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,609,889 (GRCm39) |
D585G |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,466 (GRCm39) |
V529A |
probably benign |
Het |
Rc3h1 |
C |
T |
1: 160,787,071 (GRCm39) |
T822I |
probably damaging |
Het |
Slc25a18 |
A |
T |
6: 120,763,242 (GRCm39) |
|
probably null |
Het |
Taf2 |
T |
C |
15: 54,901,818 (GRCm39) |
N792S |
probably benign |
Het |
Tat |
T |
C |
8: 110,718,581 (GRCm39) |
|
probably null |
Het |
Tbx21 |
A |
T |
11: 97,005,474 (GRCm39) |
|
probably null |
Het |
Txndc11 |
A |
G |
16: 10,893,069 (GRCm39) |
L887P |
probably damaging |
Het |
Usp10 |
A |
G |
8: 120,673,831 (GRCm39) |
T399A |
possibly damaging |
Het |
Vmn2r26 |
A |
T |
6: 124,038,633 (GRCm39) |
H736L |
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,157,204 (GRCm39) |
R496G |
possibly damaging |
Het |
Zranb2 |
C |
T |
3: 157,242,020 (GRCm39) |
R36* |
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 |
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 |
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'- CTGTCAGCATCACCATTGCTG -3'
(R):5'- GGGGAATGTGACTTCATCTCC -3'
Sequencing Primer
(F):5'- ATCACCATTGCTGAGGCTAG -3'
(R):5'- GGAATGTGACTTCATCTCCATTGTGC -3'
|
Posted On |
2017-02-10 |