Incidental Mutation 'F2404:Abhd18'
ID |
175 |
Institutional Source |
Beutler Lab
|
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 # |
F2404
of strain
feckless
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 40888313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 386
(C386G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108077]
[ENSMUST00000108078]
[ENSMUST00000159774]
[ENSMUST00000204496]
[ENSMUST00000205065]
|
AlphaFold |
Q8C1A9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108077
AA Change: C386G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103712 Gene: ENSMUSG00000037818 AA Change: C386G
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: C386G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103713 Gene: ENSMUSG00000037818 AA Change: C386G
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: C386G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124430 Gene: ENSMUSG00000037818 AA Change: C386G
Domain | Start | End | E-Value | Type |
Pfam:DUF2048
|
16 |
457 |
1.3e-171 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204496
|
SMART Domains |
Protein: ENSMUSP00000145007 Gene: ENSMUSG00000037818
Domain | Start | End | E-Value | Type |
Pfam:DUF2048
|
16 |
67 |
2.2e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205065
|
SMART Domains |
Protein: ENSMUSP00000145095 Gene: ENSMUSG00000037818
Domain | Start | End | E-Value | Type |
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
Meta Mutation Damage Score |
0.9075 |
Coding Region Coverage |
|
Validation Efficiency |
89% (81/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 8 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AC091683.1 |
G |
A |
13: 50,054,528 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
G |
A |
13: 81,568,125 (GRCm39) |
T5016M |
probably benign |
Het |
Epha3 |
A |
G |
16: 63,366,531 (GRCm39) |
L972P |
probably benign |
Het |
Gpm6a |
G |
A |
8: 55,511,917 (GRCm39) |
D264N |
probably damaging |
Het |
H1f7 |
T |
A |
15: 98,155,090 (GRCm39) |
I20F |
possibly damaging |
Het |
Pvr |
A |
T |
7: 19,639,102 (GRCm39) |
S393T |
probably benign |
Het |
Rsbn1 |
T |
A |
3: 103,821,892 (GRCm39) |
C3* |
probably null |
Het |
Thoc2l |
T |
A |
5: 104,668,096 (GRCm39) |
W873R |
possibly damaging |
Homo |
|
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 |
|
IGL03023:Abhd18
|
APN |
3 |
40,859,419 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified a T to G transversion at position 1339 of the 3110057O12Rik transcript in exon 11 of 13 total exons. Four transcripts of the 3110057O12Rik gene are displayed on Ensembl. The mutated nucleotide causes a cysteine to glycine substitution at amino acid 386 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The 3110057O12Rik gene encodes a 464 amino acid protein that belongs to a family of proteins conserved from plants to vertebrates. The functions of these proteins are unknown ( SMART).
The C386G change is predicted to be probably damaging by the PolyPhen program.
|
Posted On |
2010-04-09 |