Incidental Mutation 'R6968:Asah2'
| ID |
542145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asah2
|
| Ensembl Gene |
ENSMUSG00000024887 |
| Gene Name |
N-acylsphingosine amidohydrolase 2 |
| Synonyms |
neutral/alkaline ceramidase |
| MMRRC Submission |
045078-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.448)
|
| Stock # |
R6968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31989913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 489
(I489K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096119
AA Change: I489K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: I489K
| 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: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
97% (57/59) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
T |
2: 102,919,798 (GRCm39) |
L125F |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,276 (GRCm39) |
V1009A |
probably benign |
Het |
| Bace1 |
A |
G |
9: 45,766,263 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,549,840 (GRCm39) |
T348A |
possibly damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,922 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
A |
C |
19: 15,959,102 (GRCm39) |
F111V |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,085,281 (GRCm39) |
L784Q |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,683 (GRCm39) |
C398Y |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,275,130 (GRCm39) |
P46L |
probably damaging |
Het |
| Cyp2w1 |
A |
G |
5: 139,339,746 (GRCm39) |
Q112R |
probably damaging |
Het |
| Entpd3 |
A |
T |
9: 120,389,722 (GRCm39) |
E336V |
probably benign |
Het |
| Fbxw28 |
A |
C |
9: 109,159,856 (GRCm39) |
S197A |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,151,308 (GRCm39) |
F118L |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
C |
9: 44,209,282 (GRCm39) |
S306A |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,262,467 (GRCm39) |
V1663E |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,571,086 (GRCm39) |
I125T |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,877,878 (GRCm39) |
E592K |
probably benign |
Het |
| Krt23 |
T |
A |
11: 99,371,900 (GRCm39) |
E317V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,835,857 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,934,586 (GRCm39) |
N152K |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,376,476 (GRCm39) |
|
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,860 (GRCm39) |
T584A |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,957,852 (GRCm39) |
E335G |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,783,433 (GRCm39) |
N925K |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 56,998,758 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,329,499 (GRCm39) |
I239V |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,779,409 (GRCm39) |
D562G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,273,155 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
A |
G |
11: 73,690,205 (GRCm39) |
I126T |
possibly damaging |
Het |
| Ormdl3 |
T |
A |
11: 98,474,941 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,333,977 (GRCm39) |
V97D |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,658 (GRCm39) |
F847L |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,799,612 (GRCm39) |
V722F |
possibly damaging |
Het |
| Rhoh |
A |
G |
5: 66,049,862 (GRCm39) |
D44G |
possibly damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,147 (GRCm39) |
R228C |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Saxo2 |
T |
C |
7: 82,292,969 (GRCm39) |
T43A |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,648 (GRCm39) |
|
probably null |
Het |
| Snap25 |
T |
C |
2: 136,611,690 (GRCm39) |
M64T |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,597,426 (GRCm39) |
N1410S |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,774 (GRCm39) |
I231T |
probably damaging |
Het |
| Stam |
A |
T |
2: 14,120,829 (GRCm39) |
H78L |
probably damaging |
Het |
| Suox |
C |
T |
10: 128,507,702 (GRCm39) |
V109I |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,067,041 (GRCm39) |
R7075G |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,550,217 (GRCm39) |
R482Q |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,781,650 (GRCm39) |
V1440A |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 72,016,608 (GRCm39) |
D655G |
probably damaging |
Het |
| Trgv2 |
A |
T |
13: 19,520,896 (GRCm39) |
I66K |
probably damaging |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,876 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,866 (GRCm39) |
H206L |
probably benign |
Het |
| Zan |
T |
A |
5: 137,460,075 (GRCm39) |
Y1272F |
unknown |
Het |
| Zfp39 |
T |
C |
11: 58,782,306 (GRCm39) |
H152R |
probably benign |
Het |
| Zfp41 |
T |
A |
15: 75,490,310 (GRCm39) |
Y87* |
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,910,654 (GRCm39) |
L314H |
probably 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 |
|
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 |
|
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 |
|
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'- CCAAGAGATCAGCAGAGAATTCTC -3'
(R):5'- ACGTGTTTCATGTTACAGCAGAG -3'
Sequencing Primer
(F):5'- CTCTGACCTGTACGAGTATAGCATG -3'
(R):5'- GTTTCATGTTACAGCAGAGTTAGAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation