Incidental Mutation 'IGL00825:Abhd3'
| ID |
12432 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abhd3
|
| Ensembl Gene |
ENSMUSG00000002475 |
| Gene Name |
abhydrolase domain containing 3 |
| Synonyms |
LABH3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.630)
|
| Stock # |
IGL00825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
10644411-10706784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10704657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 129
(V129M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002549]
[ENSMUST00000117726]
[ENSMUST00000117828]
|
| AlphaFold |
Q91ZH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002549
AA Change: V134M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002549
Gene: ENSMUSG00000002475
AA Change: V134M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_1
|
140 |
252 |
2.4e-10 |
PFAM |
|
Pfam:Abhydrolase_5
|
141 |
376 |
1.2e-10 |
PFAM |
|
Pfam:Abhydrolase_6
|
142 |
384 |
9.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117726
AA Change: V129M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112768
Gene: ENSMUSG00000002475
AA Change: V129M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
136 |
374 |
5.3e-10 |
PFAM |
|
Pfam:Abhydrolase_6
|
137 |
379 |
2.8e-17 |
PFAM |
|
Pfam:Abhydrolase_1
|
164 |
373 |
6.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117828
AA Change: V129M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113137
Gene: ENSMUSG00000002475
AA Change: V129M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
136 |
371 |
9e-11 |
PFAM |
|
Pfam:Abhydrolase_6
|
137 |
383 |
1.6e-17 |
PFAM |
|
Pfam:Abhydrolase_1
|
164 |
377 |
4e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180948
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp8 |
G |
A |
1: 58,868,165 (GRCm39) |
S202N |
probably benign |
Het |
| Cimap1c |
A |
G |
9: 56,758,975 (GRCm39) |
I60T |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,957,144 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,263,811 (GRCm39) |
Y2098H |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,748,778 (GRCm39) |
K1053E |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,793 (GRCm39) |
K196R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,673,516 (GRCm39) |
Y426F |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,671 (GRCm39) |
T210A |
probably benign |
Het |
| Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
| P3h2 |
A |
G |
16: 25,811,548 (GRCm39) |
I225T |
probably damaging |
Het |
| Pld2 |
G |
A |
11: 70,442,006 (GRCm39) |
W337* |
probably null |
Het |
| Ppp2r2b |
C |
T |
18: 42,778,840 (GRCm39) |
V429M |
probably damaging |
Het |
| Pprc1 |
G |
T |
19: 46,059,845 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,587,655 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
T |
A |
3: 138,689,588 (GRCm39) |
I135F |
possibly damaging |
Het |
| Rasa2 |
A |
T |
9: 96,452,772 (GRCm39) |
N371K |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,878,208 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
A |
7: 128,369,333 (GRCm39) |
L686I |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,595,721 (GRCm39) |
V21A |
possibly damaging |
Het |
| Slco1c1 |
A |
T |
6: 141,487,868 (GRCm39) |
N79Y |
probably damaging |
Het |
| Tbl1xr1 |
G |
T |
3: 22,243,950 (GRCm39) |
|
probably null |
Het |
| Zfp961 |
T |
A |
8: 72,721,888 (GRCm39) |
C134S |
possibly damaging |
Het |
|
| Other mutations in Abhd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Abhd3
|
APN |
18 |
10,647,869 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02666:Abhd3
|
APN |
18 |
10,645,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02683:Abhd3
|
APN |
18 |
10,658,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Abhd3
|
UTSW |
18 |
10,645,233 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0158:Abhd3
|
UTSW |
18 |
10,647,840 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0539:Abhd3
|
UTSW |
18 |
10,645,208 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4543:Abhd3
|
UTSW |
18 |
10,706,672 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4847:Abhd3
|
UTSW |
18 |
10,647,786 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5924:Abhd3
|
UTSW |
18 |
10,706,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Abhd3
|
UTSW |
18 |
10,706,032 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7020:Abhd3
|
UTSW |
18 |
10,645,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Abhd3
|
UTSW |
18 |
10,652,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9456:Abhd3
|
UTSW |
18 |
10,645,121 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9620:Abhd3
|
UTSW |
18 |
10,704,605 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2012-12-06 |
Incidental Mutation