Incidental Mutation 'R2901:Abhd13'
| ID |
261468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd13
|
| Ensembl Gene |
ENSMUSG00000040396 |
| Gene Name |
abhydrolase domain containing 13 |
| Synonyms |
1110065L07Rik |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
10027717-10042155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10038231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 276
(M276K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048216]
[ENSMUST00000139793]
|
| AlphaFold |
Q80UX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048216
AA Change: M276K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036730
Gene: ENSMUSG00000040396
AA Change: M276K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
58 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
116 |
299 |
5.6e-24 |
PFAM |
|
Pfam:Abhydrolase_3
|
117 |
279 |
1.7e-6 |
PFAM |
|
Pfam:Abhydrolase_6
|
117 |
310 |
4.9e-15 |
PFAM |
|
Pfam:Abhydrolase_1
|
143 |
245 |
1.8e-8 |
PFAM |
|
Pfam:AXE1
|
163 |
229 |
3.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139793
AA Change: M276K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116130
Gene: ENSMUSG00000040396
AA Change: M276K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
58 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
111 |
250 |
2.5e-11 |
PFAM |
|
Pfam:Abhydrolase_1
|
115 |
237 |
3.2e-11 |
PFAM |
|
Pfam:Abhydrolase_5
|
116 |
299 |
6.3e-24 |
PFAM |
|
Pfam:Abhydrolase_6
|
117 |
241 |
2.9e-8 |
PFAM |
|
Pfam:AXE1
|
162 |
229 |
9.1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.7622 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
probably benign |
Het |
|
| Other mutations in Abhd13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Abhd13
|
APN |
8 |
10,037,900 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4243001:Abhd13
|
UTSW |
8 |
10,037,967 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0242:Abhd13
|
UTSW |
8 |
10,037,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Abhd13
|
UTSW |
8 |
10,037,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0350:Abhd13
|
UTSW |
8 |
10,037,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Abhd13
|
UTSW |
8 |
10,037,402 (GRCm39) |
start gained |
probably benign |
|
|
R1906:Abhd13
|
UTSW |
8 |
10,038,170 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1907:Abhd13
|
UTSW |
8 |
10,038,170 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3105:Abhd13
|
UTSW |
8 |
10,037,931 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3413:Abhd13
|
UTSW |
8 |
10,037,387 (GRCm39) |
splice site |
probably benign |
|
|
R4569:Abhd13
|
UTSW |
8 |
10,038,071 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5586:Abhd13
|
UTSW |
8 |
10,038,318 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6373:Abhd13
|
UTSW |
8 |
10,038,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Abhd13
|
UTSW |
8 |
10,037,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Abhd13
|
UTSW |
8 |
10,038,075 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7315:Abhd13
|
UTSW |
8 |
10,037,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8235:Abhd13
|
UTSW |
8 |
10,037,394 (GRCm39) |
start gained |
probably benign |
|
|
R9656:Abhd13
|
UTSW |
8 |
10,037,991 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Abhd13
|
UTSW |
8 |
10,037,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAGCCATCATGGTGGAGAAC -3'
(R):5'- CCAAGGCATCCATCAAGAGG -3'
Sequencing Primer
(F):5'- TGGAGAACACATTCCTAAGCATAC -3'
(R):5'- TCAAGAGGATGGCATCAGATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation