Incidental Mutation 'IGL01824:Abhd17c'
| ID |
154621 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abhd17c
|
| Ensembl Gene |
ENSMUSG00000038459 |
| Gene Name |
abhydrolase domain containing 17C |
| Synonyms |
2210412D01Rik, Fam108c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83758564-83801101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83800497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 186
(R186C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117085]
|
| AlphaFold |
Q8VCV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117085
AA Change: R186C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112988
Gene: ENSMUSG00000038459
AA Change: R186C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
77 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
120 |
240 |
8.7e-9 |
PFAM |
|
Pfam:Abhydrolase_5
|
125 |
297 |
2.8e-30 |
PFAM |
|
Pfam:DLH
|
162 |
297 |
4.7e-7 |
PFAM |
|
Pfam:Peptidase_S9
|
167 |
317 |
2.7e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208271
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,802,580 (GRCm39) |
|
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,656,494 (GRCm39) |
W400R |
probably damaging |
Het |
| Cyp27a1 |
G |
T |
1: 74,775,040 (GRCm39) |
E290* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,543,429 (GRCm39) |
D2247G |
probably benign |
Het |
| Gins4 |
G |
A |
8: 23,724,784 (GRCm39) |
Q57* |
probably null |
Het |
| Gli1 |
T |
C |
10: 127,172,396 (GRCm39) |
D219G |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,761,717 (GRCm39) |
C554* |
probably null |
Het |
| Gtf2ird2 |
T |
C |
5: 134,226,123 (GRCm39) |
|
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,020 (GRCm39) |
R155G |
probably benign |
Het |
| Lck |
T |
A |
4: 129,451,939 (GRCm39) |
M14L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,336,691 (GRCm39) |
D322G |
probably damaging |
Het |
| Or4b1b |
T |
A |
2: 90,112,263 (GRCm39) |
I219F |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,709,223 (GRCm39) |
D697E |
probably damaging |
Het |
| Pnp |
C |
T |
14: 51,188,870 (GRCm39) |
T221I |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,905,753 (GRCm39) |
I1514T |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,365,516 (GRCm39) |
M523V |
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,592,110 (GRCm39) |
Y246H |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,198,763 (GRCm39) |
I301F |
probably benign |
Het |
| Srebf1 |
A |
G |
11: 60,094,957 (GRCm39) |
S446P |
probably benign |
Het |
| Sys1 |
T |
G |
2: 164,305,225 (GRCm39) |
L56R |
probably damaging |
Het |
| Trpc7 |
G |
T |
13: 56,937,535 (GRCm39) |
Y585* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,929 (GRCm39) |
Y580F |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 127,002,499 (GRCm39) |
V485F |
probably damaging |
Het |
|
| Other mutations in Abhd17c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01529:Abhd17c
|
APN |
7 |
83,800,622 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02835:Abhd17c
|
UTSW |
7 |
83,800,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2127:Abhd17c
|
UTSW |
7 |
83,759,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Abhd17c
|
UTSW |
7 |
83,800,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Abhd17c
|
UTSW |
7 |
83,759,884 (GRCm39) |
nonsense |
probably null |
|
|
R5111:Abhd17c
|
UTSW |
7 |
83,800,646 (GRCm39) |
nonsense |
probably null |
|
|
R7812:Abhd17c
|
UTSW |
7 |
83,800,624 (GRCm39) |
nonsense |
probably null |
|
|
R9449:Abhd17c
|
UTSW |
7 |
83,763,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9640:Abhd17c
|
UTSW |
7 |
83,800,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation