Incidental Mutation 'IGL03023:Abhd18'
| ID |
408051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abhd18
|
| Ensembl Gene |
ENSMUSG00000037818 |
| Gene Name |
abhydrolase domain containing 18 |
| Synonyms |
3110057O12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40859419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 28
(D28G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099123]
[ENSMUST00000108077]
[ENSMUST00000108078]
[ENSMUST00000159774]
[ENSMUST00000203214]
[ENSMUST00000203472]
[ENSMUST00000203650]
[ENSMUST00000204496]
[ENSMUST00000205065]
[ENSMUST00000203892]
|
| AlphaFold |
Q8C1A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099123
|
| SMART Domains |
Protein: ENSMUSP00000141045
Gene: ENSMUSG00000074619
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:FUN14
|
81 |
183 |
2.9e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108077
AA Change: D28G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
457 |
7.7e-168 |
PFAM |
|
Pfam:Abhydrolase_6
|
91 |
445 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108078
AA Change: D28G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
457 |
7.7e-168 |
PFAM |
|
Pfam:Abhydrolase_6
|
91 |
445 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159774
AA Change: D28G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
457 |
1.3e-171 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203214
AA Change: D28G
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144946
Gene: ENSMUSG00000037818
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
62 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203472
|
| SMART Domains |
Protein: ENSMUSP00000145313
Gene: ENSMUSG00000037818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
1 |
75 |
1.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203650
|
| SMART Domains |
Protein: ENSMUSP00000145006
Gene: ENSMUSG00000037818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
1 |
130 |
8.8e-71 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204496
AA Change: D28G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145007
Gene: ENSMUSG00000037818
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
67 |
2.2e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205065
AA Change: D28G
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203892
AA Change: D28G
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145150
Gene: ENSMUSG00000037818
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btaf1 |
C |
T |
19: 36,987,415 (GRCm39) |
R1746C |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,831,260 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,488,275 (GRCm39) |
D99G |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,719 (GRCm39) |
T313A |
probably damaging |
Het |
| Cyp3a59 |
T |
A |
5: 146,022,660 (GRCm39) |
D55E |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,169,989 (GRCm39) |
Y1790C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,786,034 (GRCm39) |
F319V |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,563,049 (GRCm39) |
V486D |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,679,794 (GRCm39) |
|
probably null |
Het |
| Hdac7 |
A |
T |
15: 97,695,838 (GRCm39) |
Y674N |
probably damaging |
Het |
| Inpp5a |
G |
A |
7: 139,105,702 (GRCm39) |
|
probably null |
Het |
| Jup |
T |
C |
11: 100,271,518 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,436,880 (GRCm39) |
T385A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,292,572 (GRCm39) |
Y1075H |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,608,692 (GRCm39) |
|
probably null |
Het |
| Or10ak11 |
A |
T |
4: 118,687,449 (GRCm39) |
F63I |
probably damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,885 (GRCm39) |
T263A |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,221,687 (GRCm39) |
C32Y |
probably damaging |
Het |
| Psmc4 |
T |
A |
7: 27,742,285 (GRCm39) |
I264L |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,995,803 (GRCm39) |
V61A |
probably benign |
Het |
| Setx |
A |
G |
2: 29,035,914 (GRCm39) |
T800A |
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,257 (GRCm39) |
C186R |
possibly damaging |
Het |
| Vsig2 |
A |
G |
9: 37,453,708 (GRCm39) |
Y136C |
probably damaging |
Het |
|
| Other mutations in Abhd18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Abhd18
|
APN |
3 |
40,888,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01785:Abhd18
|
APN |
3 |
40,860,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02318:Abhd18
|
APN |
3 |
40,884,662 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02447:Abhd18
|
APN |
3 |
40,888,208 (GRCm39) |
missense |
probably benign |
|
|
IGL02823:Abhd18
|
APN |
3 |
40,887,953 (GRCm39) |
splice site |
probably benign |
|
|
F2404:Abhd18
|
UTSW |
3 |
40,888,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0064:Abhd18
|
UTSW |
3 |
40,888,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0064:Abhd18
|
UTSW |
3 |
40,888,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0494:Abhd18
|
UTSW |
3 |
40,871,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Abhd18
|
UTSW |
3 |
40,889,361 (GRCm39) |
nonsense |
probably null |
|
|
R2206:Abhd18
|
UTSW |
3 |
40,865,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2223:Abhd18
|
UTSW |
3 |
40,889,296 (GRCm39) |
splice site |
probably benign |
|
|
R2698:Abhd18
|
UTSW |
3 |
40,885,401 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3406:Abhd18
|
UTSW |
3 |
40,859,338 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3747:Abhd18
|
UTSW |
3 |
40,888,008 (GRCm39) |
missense |
probably benign |
|
|
R4899:Abhd18
|
UTSW |
3 |
40,860,304 (GRCm39) |
splice site |
probably null |
|
|
R5259:Abhd18
|
UTSW |
3 |
40,871,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5673:Abhd18
|
UTSW |
3 |
40,877,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Abhd18
|
UTSW |
3 |
40,889,414 (GRCm39) |
nonsense |
probably null |
|
|
R5797:Abhd18
|
UTSW |
3 |
40,887,986 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5983:Abhd18
|
UTSW |
3 |
40,864,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Abhd18
|
UTSW |
3 |
40,888,218 (GRCm39) |
missense |
probably benign |
|
|
R6980:Abhd18
|
UTSW |
3 |
40,888,215 (GRCm39) |
missense |
probably benign |
|
|
R7085:Abhd18
|
UTSW |
3 |
40,871,344 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7091:Abhd18
|
UTSW |
3 |
40,871,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7096:Abhd18
|
UTSW |
3 |
40,888,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Abhd18
|
UTSW |
3 |
40,889,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Abhd18
|
UTSW |
3 |
40,888,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8193:Abhd18
|
UTSW |
3 |
40,884,660 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8414:Abhd18
|
UTSW |
3 |
40,888,061 (GRCm39) |
missense |
probably benign |
|
|
R8434:Abhd18
|
UTSW |
3 |
40,885,331 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8725:Abhd18
|
UTSW |
3 |
40,884,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Abhd18
|
UTSW |
3 |
40,884,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Abhd18
|
UTSW |
3 |
40,871,201 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9461:Abhd18
|
UTSW |
3 |
40,859,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation