Incidental Mutation 'R8974:Asah2'
| ID |
683350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asah2
|
| Ensembl Gene |
ENSMUSG00000024887 |
| Gene Name |
N-acylsphingosine amidohydrolase 2 |
| Synonyms |
neutral/alkaline ceramidase |
| MMRRC Submission |
068808-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R8974 (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 32030305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 122
(D122E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096119]
|
| AlphaFold |
Q9JHE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096119
AA Change: D122E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: D122E
| 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: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,143,716 (GRCm39) |
V342A |
probably damaging |
Het |
| Acot4 |
T |
C |
12: 84,090,515 (GRCm39) |
F404S |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,580 (GRCm39) |
T808A |
probably benign |
Het |
| Apba3 |
T |
C |
10: 81,109,032 (GRCm39) |
V154A |
|
Het |
| Arhgap27 |
A |
T |
11: 103,224,756 (GRCm39) |
F476I |
possibly damaging |
Het |
| Asb10 |
T |
C |
5: 24,745,209 (GRCm39) |
I47V |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,959,525 (GRCm39) |
T322A |
possibly damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,078,963 (GRCm39) |
V100A |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,715,621 (GRCm39) |
C664S |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cep89 |
A |
G |
7: 35,097,493 (GRCm39) |
S40G |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,446,380 (GRCm39) |
K3315R |
|
Het |
| Cyp2d34 |
T |
C |
15: 82,500,537 (GRCm39) |
E434G |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,278 (GRCm39) |
Y30H |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
| Fam168a |
A |
T |
7: 100,484,611 (GRCm39) |
T234S |
probably benign |
Het |
| Fzd3 |
G |
T |
14: 65,472,440 (GRCm39) |
Q443K |
possibly damaging |
Het |
| Galnt7 |
A |
G |
8: 58,105,934 (GRCm39) |
S27P |
|
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Hdac2 |
A |
G |
10: 36,862,340 (GRCm39) |
Y68C |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,810,408 (GRCm39) |
C68R |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,899 (GRCm39) |
T1902A |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,459,992 (GRCm39) |
M206T |
probably damaging |
Het |
| Lrrc75b |
T |
C |
10: 75,389,848 (GRCm39) |
T168A |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,674,223 (GRCm39) |
F1003L |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,366,994 (GRCm39) |
L633P |
probably damaging |
Het |
| Mapk11 |
G |
A |
15: 89,028,014 (GRCm39) |
T341I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,361,857 (GRCm39) |
V4441D |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,124,932 (GRCm39) |
E130G |
|
Het |
| Nod2 |
T |
A |
8: 89,390,433 (GRCm39) |
Y247N |
probably damaging |
Het |
| Nudcd3 |
A |
T |
11: 6,143,163 (GRCm39) |
V169E |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,203 (GRCm39) |
I141N |
probably damaging |
Het |
| Or51v15-ps1 |
T |
C |
7: 103,278,489 (GRCm39) |
Y226C |
unknown |
Het |
| Or6c200-ps1 |
A |
C |
10: 128,869,905 (GRCm39) |
C269G |
probably damaging |
Het |
| Pcdh9 |
A |
C |
14: 94,125,113 (GRCm39) |
N352K |
probably benign |
Het |
| Pfpl |
G |
A |
19: 12,405,839 (GRCm39) |
G30D |
probably damaging |
Het |
| Pi15 |
A |
G |
1: 17,691,675 (GRCm39) |
D159G |
possibly damaging |
Het |
| Plxna4 |
G |
T |
6: 32,216,447 (GRCm39) |
R543S |
possibly damaging |
Het |
| Ppp1r12c |
C |
T |
7: 4,486,698 (GRCm39) |
E543K |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,617,726 (GRCm39) |
|
probably null |
Het |
| Proca1 |
T |
C |
11: 78,096,144 (GRCm39) |
S172P |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,723,791 (GRCm39) |
M1578I |
probably benign |
Het |
| Rnf103 |
C |
A |
6: 71,486,092 (GRCm39) |
A241E |
probably damaging |
Het |
| Rorb |
T |
C |
19: 18,955,070 (GRCm39) |
D182G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,742,624 (GRCm39) |
K485E |
possibly damaging |
Het |
| Sec24d |
G |
A |
3: 123,099,498 (GRCm39) |
D324N |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,642 (GRCm39) |
I168N |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,101,980 (GRCm39) |
*62R |
probably null |
Het |
| Slc22a27 |
A |
C |
19: 7,903,751 (GRCm39) |
S129A |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,939,556 (GRCm39) |
D718G |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,882,779 (GRCm39) |
V408A |
probably benign |
Het |
| Svil |
G |
T |
18: 5,099,650 (GRCm39) |
G1729W |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,681,082 (GRCm39) |
S137P |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,486 (GRCm39) |
D108E |
probably benign |
Het |
| Trem2 |
G |
A |
17: 48,655,599 (GRCm39) |
R52Q |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,699,603 (GRCm39) |
S112P |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,840 (GRCm39) |
M242L |
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,325,636 (GRCm39) |
A85T |
probably benign |
Het |
| Zc3h3 |
T |
C |
15: 75,657,452 (GRCm39) |
T580A |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
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 |
|
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 |
|
|
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'- ACACCTTACTTTGAAGGTAGGAG -3'
(R):5'- AGATTGCCAGTCTGATCAGTAC -3'
Sequencing Primer
(F):5'- CCTTACTTTGAAGGTAGGAGATACTC -3'
(R):5'- CTTTCTCTGTACAAATACCAAAGGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation