Incidental Mutation 'IGL02694:Acer3'
| ID |
303862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acer3
|
| Ensembl Gene |
ENSMUSG00000030760 |
| Gene Name |
alkaline ceramidase 3 |
| Synonyms |
1110057L18Rik, 5430429L08Rik, Phca |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97863015-97970415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97866084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 213
(I213T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033020]
[ENSMUST00000120520]
[ENSMUST00000151258]
|
| AlphaFold |
Q9D099 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033020
AA Change: I255T
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000033020
Gene: ENSMUSG00000030760
AA Change: I255T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ceramidase
|
9 |
264 |
4.9e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120520
AA Change: I213T
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112884
Gene: ENSMUSG00000030760
AA Change: I213T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ceramidase
|
1 |
219 |
1.9e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151258
|
| SMART Domains |
Protein: ENSMUSP00000116127
Gene: ENSMUSG00000030760
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ceramidase
|
8 |
172 |
5.5e-63 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
| Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
| Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
| Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
Het |
|
| Other mutations in Acer3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01729:Acer3
|
APN |
7 |
97,866,072 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01763:Acer3
|
APN |
7 |
97,915,339 (GRCm39) |
splice site |
probably benign |
|
|
IGL02550:Acer3
|
APN |
7 |
97,873,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0278:Acer3
|
UTSW |
7 |
97,910,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Acer3
|
UTSW |
7 |
97,906,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Acer3
|
UTSW |
7 |
97,910,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Acer3
|
UTSW |
7 |
97,906,908 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5243:Acer3
|
UTSW |
7 |
97,867,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6338:Acer3
|
UTSW |
7 |
97,906,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6534:Acer3
|
UTSW |
7 |
97,875,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8845:Acer3
|
UTSW |
7 |
97,910,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Acer3
|
UTSW |
7 |
97,908,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0017:Acer3
|
UTSW |
7 |
97,873,191 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Posted On |
2015-04-16 |
Incidental Mutation