Incidental Mutation 'R6333:Abhd18'
| ID |
513224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd18
|
| Ensembl Gene |
ENSMUSG00000037818 |
| Gene Name |
abhydrolase domain containing 18 |
| Synonyms |
3110057O12Rik |
| MMRRC Submission |
044487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40888218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 354
(Y354C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108077]
[ENSMUST00000108078]
[ENSMUST00000159774]
[ENSMUST00000204496]
[ENSMUST00000205065]
|
| AlphaFold |
Q8C1A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108077
AA Change: Y354C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: Y354C
| 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 benign
Transcript: ENSMUST00000108078
AA Change: Y354C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: Y354C
| 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 benign
Transcript: ENSMUST00000159774
AA Change: Y354C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: Y354C
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.9%
- 20x: 93.2%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
T |
C |
9: 15,203,372 (GRCm39) |
K111R |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,774,427 (GRCm39) |
I424V |
possibly damaging |
Het |
| AI182371 |
A |
T |
2: 34,975,281 (GRCm39) |
I306K |
probably damaging |
Het |
| Asb4 |
G |
A |
6: 5,423,597 (GRCm39) |
R248H |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,071,819 (GRCm39) |
T349A |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,428,944 (GRCm39) |
|
probably null |
Het |
| Cep85l |
G |
A |
10: 53,225,197 (GRCm39) |
Q131* |
probably null |
Het |
| Chmp2b |
T |
A |
16: 65,337,136 (GRCm39) |
M178L |
possibly damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,355 (GRCm39) |
N84D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,637 (GRCm39) |
|
probably null |
Het |
| Defa34 |
T |
C |
8: 22,155,862 (GRCm39) |
V17A |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,653,856 (GRCm39) |
L947Q |
probably damaging |
Het |
| Dynlt2a1 |
G |
A |
17: 15,261,717 (GRCm39) |
|
probably benign |
Het |
| Ell |
A |
G |
8: 71,044,188 (GRCm39) |
Y578C |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,135 (GRCm39) |
M49L |
probably benign |
Het |
| Fbxw19 |
A |
T |
9: 109,323,751 (GRCm39) |
W75R |
probably benign |
Het |
| Fcgr4 |
A |
G |
1: 170,856,838 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Gm13030 |
A |
T |
4: 138,598,708 (GRCm39) |
|
probably null |
Het |
| Hdac9 |
T |
C |
12: 34,102,323 (GRCm39) |
M1058V |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,540 (GRCm39) |
F253S |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,289,266 (GRCm39) |
Y3794H |
probably damaging |
Het |
| Mark4 |
G |
A |
7: 19,177,208 (GRCm39) |
T207M |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,249,382 (GRCm39) |
T304A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,148,275 (GRCm39) |
L2657P |
probably damaging |
Het |
| Nufip1 |
A |
C |
14: 76,349,425 (GRCm39) |
K152N |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,331,860 (GRCm39) |
V381A |
probably benign |
Het |
| Pdss1 |
A |
G |
2: 22,791,778 (GRCm39) |
T30A |
probably damaging |
Het |
| Plrg1 |
A |
G |
3: 82,964,102 (GRCm39) |
T12A |
probably damaging |
Het |
| Ppig |
C |
T |
2: 69,579,902 (GRCm39) |
H479Y |
unknown |
Het |
| Prokr2 |
A |
G |
2: 132,215,898 (GRCm39) |
F188L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,150 (GRCm39) |
N130S |
probably benign |
Het |
| Ptar1 |
G |
A |
19: 23,671,686 (GRCm39) |
D30N |
possibly damaging |
Het |
| Rai14 |
G |
T |
15: 10,575,022 (GRCm39) |
Y645* |
probably null |
Het |
| Rnasek |
T |
C |
11: 70,129,252 (GRCm39) |
Y67C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,354,192 (GRCm39) |
V4023A |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Sctr |
T |
C |
1: 119,984,182 (GRCm39) |
F357L |
probably damaging |
Het |
| Sec14l5 |
G |
A |
16: 4,984,908 (GRCm39) |
V85I |
probably benign |
Het |
| Shld2 |
G |
A |
14: 33,989,565 (GRCm39) |
T447M |
probably damaging |
Het |
| Sirpd |
T |
C |
3: 15,385,671 (GRCm39) |
Y77C |
probably damaging |
Het |
| Spag8 |
T |
C |
4: 43,653,186 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,620,736 (GRCm39) |
D358G |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,423,331 (GRCm39) |
T672A |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,322,821 (GRCm39) |
Q43* |
probably null |
Het |
| Trmt1l |
T |
A |
1: 151,329,685 (GRCm39) |
S543T |
probably benign |
Het |
| Ube4b |
A |
G |
4: 149,432,494 (GRCm39) |
F810S |
probably damaging |
Het |
| Vmn2r104 |
C |
T |
17: 20,249,848 (GRCm39) |
V808I |
probably benign |
Het |
| Zfp3 |
T |
A |
11: 70,662,266 (GRCm39) |
I75N |
probably benign |
Het |
| Zwint |
A |
G |
10: 72,490,784 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TGACTAACCTGAATCTGGTTTCC -3'
(R):5'- ATCTCTAGTCCCAAAGTGAATATCC -3'
Sequencing Primer
(F):5'- CAGTGCTCCTTCAAATGGA -3'
(R):5'- ACTCCAGTTTCAGGGAGATCTGAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation