Incidental Mutation 'R3406:Abhd18'
| ID |
259372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd18
|
| Ensembl Gene |
ENSMUSG00000037818 |
| Gene Name |
abhydrolase domain containing 18 |
| Synonyms |
3110057O12Rik |
| MMRRC Submission |
040624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 40859338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099123]
[ENSMUST00000108077]
[ENSMUST00000108078]
[ENSMUST00000159774]
[ENSMUST00000203214]
[ENSMUST00000203472]
[ENSMUST00000203650]
[ENSMUST00000203892]
[ENSMUST00000204496]
[ENSMUST00000205065]
|
| 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 null
Transcript: ENSMUST00000108077
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: M1K
| 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 null
Transcript: ENSMUST00000108078
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: M1K
| 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 null
Transcript: ENSMUST00000159774
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
457 |
1.3e-171 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203214
AA Change: M1K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144946
Gene: ENSMUSG00000037818
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000203892
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145150
Gene: ENSMUSG00000037818
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204496
AA Change: M1K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145007
Gene: ENSMUSG00000037818
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
67 |
2.2e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205065
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Meta Mutation Damage Score |
0.9726 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,079,089 (GRCm39) |
C378* |
probably null |
Het |
| Bdkrb2 |
T |
C |
12: 105,558,755 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Chd4 |
C |
A |
6: 125,098,970 (GRCm39) |
T1586K |
probably benign |
Het |
| Cnga3 |
A |
G |
1: 37,301,146 (GRCm39) |
E622G |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,977 (GRCm39) |
D396G |
possibly damaging |
Het |
| Dhodh |
G |
A |
8: 110,330,107 (GRCm39) |
R86* |
probably null |
Het |
| Dpt |
A |
C |
1: 164,624,500 (GRCm39) |
E67A |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,166,068 (GRCm39) |
|
probably benign |
Het |
| Esp4 |
T |
A |
17: 40,913,336 (GRCm39) |
L68M |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,733,536 (GRCm39) |
K787E |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,647,914 (GRCm39) |
T875A |
probably damaging |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hemk1 |
G |
A |
9: 107,214,415 (GRCm39) |
Q6* |
probably null |
Het |
| Hmcn2 |
C |
T |
2: 31,323,284 (GRCm39) |
|
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,720,613 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
A |
G |
8: 92,525,555 (GRCm39) |
S507P |
unknown |
Het |
| Kazn |
C |
A |
4: 141,966,506 (GRCm39) |
|
probably benign |
Het |
| Kcne4 |
C |
T |
1: 78,795,688 (GRCm39) |
A112V |
possibly damaging |
Het |
| Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
| Lrrc30 |
A |
G |
17: 67,939,175 (GRCm39) |
L135P |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,809,815 (GRCm39) |
M495K |
possibly damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,847 (GRCm39) |
V131F |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mlst8 |
A |
T |
17: 24,697,099 (GRCm39) |
M56K |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,310 (GRCm39) |
Y160C |
probably damaging |
Het |
| Mslnl |
A |
G |
17: 25,965,155 (GRCm39) |
Y507C |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myl12a |
A |
T |
17: 71,301,737 (GRCm39) |
M130K |
probably benign |
Het |
| Nalf2 |
A |
G |
X: 98,889,109 (GRCm39) |
I325V |
probably benign |
Het |
| Ncdn |
C |
T |
4: 126,642,388 (GRCm39) |
R423Q |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,698 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
G |
T |
11: 78,061,572 (GRCm39) |
S319* |
probably null |
Het |
| Or11g7 |
G |
A |
14: 50,690,653 (GRCm39) |
C48Y |
probably benign |
Het |
| Or52m2 |
T |
C |
7: 102,263,993 (GRCm39) |
M68V |
possibly damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,442 (GRCm39) |
A558E |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,978,526 (GRCm39) |
W431R |
probably damaging |
Het |
| Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Siah3 |
A |
G |
14: 75,763,421 (GRCm39) |
D224G |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,598,675 (GRCm39) |
L244P |
probably damaging |
Het |
| Stap2 |
A |
T |
17: 56,304,511 (GRCm39) |
W374R |
probably benign |
Het |
| Tbck |
T |
A |
3: 132,432,845 (GRCm39) |
N418K |
probably benign |
Het |
| Tcp11x2 |
T |
C |
X: 134,555,733 (GRCm39) |
N474S |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,681,590 (GRCm39) |
V2680G |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,538,213 (GRCm39) |
|
probably benign |
Het |
| Tlr6 |
C |
T |
5: 65,110,772 (GRCm39) |
V712M |
probably damaging |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,401,660 (GRCm39) |
|
probably benign |
Het |
| Znrf2 |
A |
T |
6: 54,861,776 (GRCm39) |
N229I |
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 |
|
|
IGL03023:Abhd18
|
APN |
3 |
40,859,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGAAGTCATTGTTTGGTAAGGC -3'
(R):5'- ACCCAAGTCATGATGCTATATGC -3'
Sequencing Primer
(F):5'- AAGTCATTGTTTGGTAAGGCTTTAG -3'
(R):5'- TAACTCAGAGCACTTGTGGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation