Incidental Mutation 'IGL01651:Abhd16b'
| ID |
102846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abhd16b
|
| Ensembl Gene |
ENSMUSG00000055882 |
| Gene Name |
abhydrolase domain containing 16B |
| Synonyms |
BC050777 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL01651
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181134999-181136773 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 181136531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000844]
[ENSMUST00000069649]
[ENSMUST00000069712]
[ENSMUST00000108799]
[ENSMUST00000108800]
[ENSMUST00000149163]
[ENSMUST00000184849]
[ENSMUST00000184588]
|
| AlphaFold |
Q80YU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000844
|
| SMART Domains |
Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
199 |
6.2e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069649
|
| SMART Domains |
Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_1
|
174 |
339 |
2.9e-11 |
PFAM |
|
Pfam:Abhydrolase_5
|
174 |
341 |
2.1e-13 |
PFAM |
|
Pfam:Hydrolase_4
|
180 |
308 |
5.1e-9 |
PFAM |
|
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069712
|
| SMART Domains |
Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
193 |
5.8e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108799
|
| SMART Domains |
Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
18 |
121 |
1.9e-38 |
PFAM |
|
Pfam:TPD52
|
115 |
220 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108800
|
| SMART Domains |
Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
27 |
179 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149163
|
| SMART Domains |
Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
28 |
213 |
5.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183956
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184849
|
| SMART Domains |
Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD52
|
9 |
170 |
2.4e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184588
|
| 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 |
|---|
| Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,784,856 (GRCm39) |
D310G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
| Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,933,975 (GRCm39) |
V154A |
probably damaging |
Het |
| Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
| Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
| Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
| Otud7b |
C |
T |
3: 96,060,807 (GRCm39) |
Q441* |
probably null |
Het |
| Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,386,864 (GRCm39) |
Q321K |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,691,862 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
| Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
C |
T |
1: 156,129,397 (GRCm39) |
M104I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
| Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,348 (GRCm39) |
N127S |
probably benign |
Het |
|
| Other mutations in Abhd16b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02237:Abhd16b
|
APN |
2 |
181,135,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02457:Abhd16b
|
APN |
2 |
181,136,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4486001:Abhd16b
|
UTSW |
2 |
181,135,752 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1760:Abhd16b
|
UTSW |
2 |
181,135,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Abhd16b
|
UTSW |
2 |
181,135,209 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3124:Abhd16b
|
UTSW |
2 |
181,136,319 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4779:Abhd16b
|
UTSW |
2 |
181,135,253 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5781:Abhd16b
|
UTSW |
2 |
181,135,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Abhd16b
|
UTSW |
2 |
181,135,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Abhd16b
|
UTSW |
2 |
181,135,461 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7305:Abhd16b
|
UTSW |
2 |
181,135,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7850:Abhd16b
|
UTSW |
2 |
181,135,518 (GRCm39) |
missense |
not run |
|
|
R8115:Abhd16b
|
UTSW |
2 |
181,135,527 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8132:Abhd16b
|
UTSW |
2 |
181,135,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8214:Abhd16b
|
UTSW |
2 |
181,135,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Abhd16b
|
UTSW |
2 |
181,136,208 (GRCm39) |
missense |
probably benign |
|
|
R8975:Abhd16b
|
UTSW |
2 |
181,135,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9381:Abhd16b
|
UTSW |
2 |
181,135,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Abhd16b
|
UTSW |
2 |
181,135,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9699:Abhd16b
|
UTSW |
2 |
181,136,518 (GRCm39) |
missense |
probably benign |
|
|
X0052:Abhd16b
|
UTSW |
2 |
181,136,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Abhd16b
|
UTSW |
2 |
181,135,506 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2014-01-21 |
Incidental Mutation