Incidental Mutation 'R8122:Asah1'
| ID |
631551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asah1
|
| Ensembl Gene |
ENSMUSG00000031591 |
| Gene Name |
N-acylsphingosine amidohydrolase 1 |
| Synonyms |
2310081N20Rik, acid ceramidase |
| MMRRC Submission |
067551-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41793234-41827810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41796767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 305
(E305G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034000]
[ENSMUST00000110417]
|
| AlphaFold |
Q9WV54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034000
AA Change: E305G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000034000
Gene: ENSMUSG00000031591
AA Change: E305G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:NAAA-beta
|
44 |
138 |
4.2e-35 |
PFAM |
|
Pfam:CBAH
|
142 |
389 |
1e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110417
|
| SMART Domains |
Protein: ENSMUSP00000106047
Gene: ENSMUSG00000031591
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAAA-beta
|
24 |
118 |
8.8e-39 |
PFAM |
|
Pfam:CBAH
|
122 |
216 |
7.9e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.0754 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.5%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: This gene encodes acid ceramidase, an enzyme that plays a central role in ceramide metabolism. The encoded protein undergoes proteolytic processing to generate a heterodimeric enzyme comprised of alpha and beta subunits that catalyzes the hydrolysis of sphingolipid ceramide into sphingosine and free fatty acid. The homozygous disruption of this gene leads to embryonic lethality in mice whereas the heterozygous animals exhibit a progressive lipid storage disease phenotype. [provided by RefSeq, Oct 2015]
PHENOTYPE: Nullizygous mutation of this gene causes embryonic lethality. Homozygotes for the P361R mutation die prematurely with growth defects, low acid ceramidase activity, high ceramide levels, histiocyte infiltrates into various organs, Farber bodies, short femur growth plates and altered ovary morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,433,761 (GRCm39) |
Y426C |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,193,670 (GRCm39) |
V672E |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,791 (GRCm39) |
M329L |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,761,293 (GRCm39) |
N1048S |
probably damaging |
Het |
| AW551984 |
T |
A |
9: 39,510,665 (GRCm39) |
K223N |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,927,417 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
T |
C |
15: 78,411,446 (GRCm39) |
N77D |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,674,205 (GRCm39) |
I83F |
probably damaging |
Het |
| Cd6 |
A |
G |
19: 10,770,231 (GRCm39) |
F487L |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,107,069 (GRCm39) |
V1067A |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,442 (GRCm39) |
D496V |
|
Het |
| Csrnp1 |
T |
C |
9: 119,802,273 (GRCm39) |
D262G |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,276,744 (GRCm39) |
Q65L |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,313,891 (GRCm39) |
C19* |
probably null |
Het |
| Dgkg |
A |
C |
16: 22,385,295 (GRCm39) |
|
probably null |
Het |
| Eif4g2 |
T |
C |
7: 110,677,760 (GRCm39) |
I118V |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
| Kcnn2 |
T |
G |
18: 45,810,005 (GRCm39) |
V414G |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,930,592 (GRCm39) |
H2055Y |
possibly damaging |
Het |
| Loxl3 |
T |
A |
6: 83,026,240 (GRCm39) |
W443R |
probably damaging |
Het |
| Mab21l1 |
A |
T |
3: 55,690,905 (GRCm39) |
D164V |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
| Or2y1f |
C |
A |
11: 49,184,401 (GRCm39) |
N84K |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,822 (GRCm39) |
S67P |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,632,682 (GRCm39) |
E578K |
probably damaging |
Het |
| Pld2 |
T |
A |
11: 70,432,259 (GRCm39) |
L126* |
probably null |
Het |
| Polk |
A |
T |
13: 96,620,291 (GRCm39) |
N716K |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,170,295 (GRCm39) |
K669E |
probably benign |
Het |
| Sag |
A |
G |
1: 87,762,289 (GRCm39) |
D318G |
probably damaging |
Het |
| Scfd1 |
T |
A |
12: 51,480,052 (GRCm39) |
V528E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,221,157 (GRCm39) |
L834P |
probably benign |
Het |
| Shank1 |
G |
T |
7: 43,983,015 (GRCm39) |
G637V |
unknown |
Het |
| Slc12a6 |
A |
G |
2: 112,097,167 (GRCm39) |
M1V |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,173,644 (GRCm39) |
K242R |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,045,153 (GRCm39) |
Y495C |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,107 (GRCm39) |
S235N |
probably benign |
Het |
| Tmem183a |
A |
T |
1: 134,282,503 (GRCm39) |
C201S |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,889,993 (GRCm39) |
I1237V |
probably benign |
Het |
| Trub1 |
G |
T |
19: 57,473,563 (GRCm39) |
V207L |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,909,217 (GRCm39) |
I634N |
probably benign |
Het |
| Ube2j1 |
T |
G |
4: 33,045,145 (GRCm39) |
N208K |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,118,011 (GRCm39) |
S569P |
probably damaging |
Het |
|
| Other mutations in Asah1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01824:Asah1
|
APN |
8 |
41,802,580 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02512:Asah1
|
APN |
8 |
41,813,344 (GRCm39) |
intron |
probably benign |
|
|
IGL02523:Asah1
|
APN |
8 |
41,804,984 (GRCm39) |
missense |
probably benign |
|
|
IGL03115:Asah1
|
APN |
8 |
41,813,336 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03357:Asah1
|
APN |
8 |
41,799,233 (GRCm39) |
splice site |
probably benign |
|
|
PIT4366001:Asah1
|
UTSW |
8 |
41,796,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0593:Asah1
|
UTSW |
8 |
41,802,619 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1451:Asah1
|
UTSW |
8 |
41,807,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1977:Asah1
|
UTSW |
8 |
41,796,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2200:Asah1
|
UTSW |
8 |
41,796,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3429:Asah1
|
UTSW |
8 |
41,804,925 (GRCm39) |
unclassified |
probably benign |
|
|
R4002:Asah1
|
UTSW |
8 |
41,801,176 (GRCm39) |
splice site |
probably benign |
|
|
R4078:Asah1
|
UTSW |
8 |
41,807,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4470:Asah1
|
UTSW |
8 |
41,796,761 (GRCm39) |
splice site |
probably null |
|
|
R4471:Asah1
|
UTSW |
8 |
41,796,761 (GRCm39) |
splice site |
probably null |
|
|
R4968:Asah1
|
UTSW |
8 |
41,807,067 (GRCm39) |
missense |
|
|
|
R4970:Asah1
|
UTSW |
8 |
41,813,314 (GRCm39) |
nonsense |
probably null |
|
|
R5643:Asah1
|
UTSW |
8 |
41,813,332 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5644:Asah1
|
UTSW |
8 |
41,813,332 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6128:Asah1
|
UTSW |
8 |
41,807,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Asah1
|
UTSW |
8 |
41,796,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Asah1
|
UTSW |
8 |
41,800,106 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7442:Asah1
|
UTSW |
8 |
41,796,602 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7587:Asah1
|
UTSW |
8 |
41,827,578 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7663:Asah1
|
UTSW |
8 |
41,794,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7980:Asah1
|
UTSW |
8 |
41,807,067 (GRCm39) |
missense |
|
|
|
R8275:Asah1
|
UTSW |
8 |
41,801,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Asah1
|
UTSW |
8 |
41,813,312 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8752:Asah1
|
UTSW |
8 |
41,813,314 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8960:Asah1
|
UTSW |
8 |
41,800,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9131:Asah1
|
UTSW |
8 |
41,807,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9539:Asah1
|
UTSW |
8 |
41,827,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCTGCGGTCATCAATAAAC -3'
(R):5'- AAGGACTGCTGATACCTGTTTCC -3'
Sequencing Primer
(F):5'- TCTGCGGTCATCAATAAACAAGGTG -3'
(R):5'- TTAGTTTCTACACCTAAAACACAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation