Incidental Mutation 'R7091:Abhd18'
| ID |
550196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd18
|
| Ensembl Gene |
ENSMUSG00000037818 |
| Gene Name |
abhydrolase domain containing 18 |
| Synonyms |
3110057O12Rik |
| MMRRC Submission |
045185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7091 (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 C
at 40871173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 111
(I111L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108077]
[ENSMUST00000108078]
[ENSMUST00000159774]
[ENSMUST00000203214]
[ENSMUST00000203472]
[ENSMUST00000203650]
[ENSMUST00000203892]
[ENSMUST00000204496]
[ENSMUST00000205065]
|
| AlphaFold |
Q8C1A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108077
AA Change: I111L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: I111L
| 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 damaging
Transcript: ENSMUST00000108078
AA Change: I111L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: I111L
| 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 damaging
Transcript: ENSMUST00000159774
AA Change: I111L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: I111L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
457 |
1.3e-171 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203214
|
| SMART Domains |
Protein: ENSMUSP00000144946
Gene: ENSMUSG00000037818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
62 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203472
AA Change: I35L
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145313
Gene: ENSMUSG00000037818
AA Change: I35L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
1 |
75 |
1.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203650
AA Change: I35L
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145006
Gene: ENSMUSG00000037818
AA Change: I35L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
1 |
130 |
8.8e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203892
AA Change: I111L
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145150
Gene: ENSMUSG00000037818
AA Change: I111L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| 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
AA Change: I111L
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818
AA Change: I111L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
G |
8: 23,548,679 (GRCm39) |
D11G |
probably benign |
Het |
| Ank2 |
G |
T |
3: 126,817,000 (GRCm39) |
Q472K |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,470,677 (GRCm39) |
L520H |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,692 (GRCm39) |
K205E |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,417,253 (GRCm39) |
M294L |
probably benign |
Het |
| Capn1 |
A |
G |
19: 6,041,586 (GRCm39) |
M641T |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,758,670 (GRCm39) |
D377E |
probably benign |
Het |
| Col6a2 |
C |
T |
10: 76,450,925 (GRCm39) |
V39I |
unknown |
Het |
| Crybg3 |
T |
A |
16: 59,377,531 (GRCm39) |
D1241V |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,893,206 (GRCm39) |
K3380R |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,768,733 (GRCm39) |
I1400M |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,522,062 (GRCm39) |
D219G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,856,535 (GRCm39) |
S1973G |
probably benign |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,387,047 (GRCm39) |
H271Q |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,967,870 (GRCm39) |
V427A |
probably damaging |
Het |
| Gm5141 |
T |
C |
13: 62,921,778 (GRCm39) |
T464A |
possibly damaging |
Het |
| Gulp1 |
T |
A |
1: 44,805,294 (GRCm39) |
F128I |
probably damaging |
Het |
| H2-T13 |
T |
C |
17: 36,394,833 (GRCm39) |
E30G |
possibly damaging |
Het |
| Hcrtr1 |
A |
C |
4: 130,024,707 (GRCm39) |
L393W |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,090 (GRCm39) |
S650P |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,736,024 (GRCm39) |
N569K |
probably benign |
Het |
| Ifi206 |
A |
G |
1: 173,301,441 (GRCm39) |
F746L |
unknown |
Het |
| Ivl |
T |
C |
3: 92,479,549 (GRCm39) |
D172G |
possibly damaging |
Het |
| Lrp5 |
A |
T |
19: 3,680,184 (GRCm39) |
D433E |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,745,210 (GRCm39) |
S1826P |
possibly damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,986,092 (GRCm39) |
L206M |
probably damaging |
Het |
| Msln |
A |
T |
17: 25,969,054 (GRCm39) |
C444S |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,100,022 (GRCm39) |
D644G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,366,177 (GRCm39) |
|
probably null |
Het |
| Nadk |
A |
G |
4: 155,672,215 (GRCm39) |
H302R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,146,124 (GRCm39) |
N15I |
|
Het |
| Nup153 |
A |
T |
13: 46,837,404 (GRCm39) |
S1273T |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,226,243 (GRCm39) |
I763T |
probably damaging |
Het |
| Or4b13 |
T |
C |
2: 90,082,807 (GRCm39) |
Y175C |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,113,727 (GRCm39) |
I107V |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,748,799 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,790,116 (GRCm39) |
S79P |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,104,027 (GRCm39) |
I3315V |
probably null |
Het |
| Rnf223 |
T |
C |
4: 156,217,156 (GRCm39) |
V177A |
probably benign |
Het |
| Slc20a1 |
C |
T |
2: 129,050,192 (GRCm39) |
T450M |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,654 (GRCm39) |
P542S |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,913,930 (GRCm39) |
Q1333L |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,204,017 (GRCm39) |
|
probably null |
Het |
| Spopfm1 |
T |
C |
3: 94,173,945 (GRCm39) |
F314L |
probably damaging |
Het |
| Tdp2 |
T |
A |
13: 25,022,207 (GRCm39) |
F209I |
probably damaging |
Het |
| Tgm4 |
C |
A |
9: 122,869,525 (GRCm39) |
L35M |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 108,911,580 (GRCm39) |
|
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,095,571 (GRCm39) |
V91D |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,268 (GRCm39) |
M39K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,543,912 (GRCm39) |
T33025S |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,943,175 (GRCm39) |
H754R |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,200,904 (GRCm39) |
Q351P |
possibly damaging |
Het |
| Wee2 |
G |
T |
6: 40,438,936 (GRCm39) |
G353V |
probably benign |
Het |
| Zfp747l1 |
C |
A |
7: 126,983,534 (GRCm39) |
A523S |
possibly damaging |
Het |
| Zfp879 |
T |
A |
11: 50,724,222 (GRCm39) |
H278L |
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 |
|
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 |
|
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 |
|
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'- AATGTAAATCCTCTGCCCCATC -3'
(R):5'- ACGAGCCATGAGTGTTCTGC -3'
Sequencing Primer
(F):5'- CTGGGCATGATGATACACACCTG -3'
(R):5'- CGCCTCCAGTAATGCTATGGAAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation