Incidental Mutation 'R5081:Asah2'
| ID |
387162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asah2
|
| Ensembl Gene |
ENSMUSG00000024887 |
| Gene Name |
N-acylsphingosine amidohydrolase 2 |
| Synonyms |
neutral/alkaline ceramidase |
| MMRRC Submission |
042670-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.448)
|
| Stock # |
R5081 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
31962046-32080540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31991708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 451
(E451V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096119
AA Change: E451V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: E451V
| 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 |
0.1253 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
93% (65/70) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
| Aig1 |
A |
G |
10: 13,677,644 (GRCm39) |
I116T |
probably benign |
Het |
| Alox12 |
A |
T |
11: 70,146,140 (GRCm39) |
|
probably null |
Het |
| Ap3s1 |
T |
A |
18: 46,887,497 (GRCm39) |
D43E |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,299,059 (GRCm39) |
M2T |
possibly damaging |
Het |
| Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
| Ass1 |
G |
A |
2: 31,378,665 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
A |
G |
9: 72,906,360 (GRCm39) |
T39A |
possibly damaging |
Het |
| Cd101 |
T |
A |
3: 100,911,021 (GRCm39) |
Y879F |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh23 |
T |
C |
10: 60,272,586 (GRCm39) |
T530A |
possibly damaging |
Het |
| Cep68 |
G |
T |
11: 20,188,477 (GRCm39) |
Q643K |
probably damaging |
Het |
| Ces1c |
A |
G |
8: 93,854,197 (GRCm39) |
S113P |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,056,232 (GRCm39) |
I278T |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,842,402 (GRCm39) |
D1440G |
unknown |
Het |
| Cspp1 |
A |
G |
1: 10,117,691 (GRCm39) |
I48V |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,151,664 (GRCm39) |
S85C |
possibly damaging |
Het |
| Cyp39a1 |
C |
A |
17: 44,057,488 (GRCm39) |
D442E |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,868,292 (GRCm39) |
F664Y |
probably damaging |
Het |
| Gpcpd1 |
A |
T |
2: 132,389,622 (GRCm39) |
H244Q |
probably benign |
Het |
| Gtf3a |
T |
A |
5: 146,888,092 (GRCm39) |
V131E |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,943,026 (GRCm39) |
R147W |
probably damaging |
Het |
| H2-Oa |
A |
T |
17: 34,313,344 (GRCm39) |
I132F |
probably damaging |
Het |
| Hsd17b8 |
G |
A |
17: 34,246,552 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
T |
A |
13: 8,937,963 (GRCm39) |
C91* |
probably null |
Het |
| Itga11 |
A |
G |
9: 62,662,478 (GRCm39) |
I484V |
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,628,694 (GRCm39) |
S101N |
probably damaging |
Het |
| Larp4 |
G |
A |
15: 99,870,898 (GRCm39) |
|
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,495,970 (GRCm39) |
L390P |
probably damaging |
Het |
| Morc1 |
T |
G |
16: 48,322,715 (GRCm39) |
S337R |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,786,026 (GRCm39) |
R1236G |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,396 (GRCm39) |
I138T |
possibly damaging |
Het |
| Nnt |
T |
C |
13: 119,502,936 (GRCm39) |
N489S |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,617,136 (GRCm39) |
I711F |
probably benign |
Het |
| Ntrk3 |
A |
G |
7: 78,227,522 (GRCm39) |
S4P |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,464,607 (GRCm39) |
T1605A |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,655 (GRCm39) |
I214V |
possibly damaging |
Het |
| Or7g32 |
A |
G |
9: 19,408,557 (GRCm39) |
E171G |
probably benign |
Het |
| Pank1 |
T |
C |
19: 34,856,316 (GRCm39) |
H54R |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,917,472 (GRCm39) |
I530V |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,480,405 (GRCm39) |
T709A |
probably benign |
Het |
| Qsox1 |
G |
T |
1: 155,688,581 (GRCm39) |
|
probably benign |
Het |
| Rbm14 |
A |
G |
19: 4,852,823 (GRCm39) |
S520P |
probably benign |
Het |
| Rbm15b |
G |
A |
9: 106,762,120 (GRCm39) |
R683C |
probably benign |
Het |
| Rhbdd2 |
T |
A |
5: 135,664,876 (GRCm39) |
V69D |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,576 (GRCm39) |
E27G |
possibly damaging |
Het |
| Scn4a |
G |
A |
11: 106,239,553 (GRCm39) |
P153L |
probably damaging |
Het |
| Serpinb6d |
A |
T |
13: 33,855,230 (GRCm39) |
R301S |
probably benign |
Het |
| Sf3a2 |
C |
A |
10: 80,640,275 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,767 (GRCm39) |
D400G |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 35,915,460 (GRCm39) |
S2025G |
possibly damaging |
Het |
| Ttc16 |
A |
T |
2: 32,657,988 (GRCm39) |
D476E |
probably damaging |
Het |
| Ttc9c |
A |
T |
19: 8,793,396 (GRCm39) |
C81* |
probably null |
Het |
| Ulk2 |
G |
A |
11: 61,694,488 (GRCm39) |
P474L |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,722 (GRCm39) |
C104R |
probably damaging |
Het |
| Vwa2 |
C |
T |
19: 56,897,752 (GRCm39) |
H686Y |
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 |
|
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'- GATCTTCCGTGTCAGTGGAC -3'
(R):5'- TTTGGGAGTGTCAGACAAAATG -3'
Sequencing Primer
(F):5'- CTGTGAAGCAGGATTGGT -3'
(R):5'- TTGGGAGTGTCAGACAAAATGTATTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation