Incidental Mutation 'R9461:Abhd18'
| ID |
714852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd18
|
| Ensembl Gene |
ENSMUSG00000037818 |
| Gene Name |
abhydrolase domain containing 18 |
| Synonyms |
3110057O12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R9461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 40859319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103712
(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
|
| SMART Domains |
Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
| 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
|
| 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 benign
Transcript: ENSMUST00000203892
|
| SMART Domains |
Protein: ENSMUSP00000145150
Gene: ENSMUSG00000037818
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,116,736 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
C |
A |
9: 111,965,704 (GRCm39) |
R422L |
probably damaging |
Het |
| Ccdc190 |
G |
A |
1: 169,761,489 (GRCm39) |
G197D |
probably benign |
Het |
| Cdc42bpa |
G |
T |
1: 179,969,861 (GRCm39) |
L1243F |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,564,011 (GRCm39) |
F462I |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,362,894 (GRCm39) |
E295G |
possibly damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,186,879 (GRCm39) |
E1227* |
probably null |
Het |
| Col5a1 |
A |
T |
2: 27,922,616 (GRCm39) |
D1717V |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,460,435 (GRCm39) |
S448P |
possibly damaging |
Het |
| Dnajb1 |
T |
C |
8: 84,335,173 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,842,601 (GRCm39) |
G1223D |
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,765,869 (GRCm39) |
R670G |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,668 (GRCm39) |
I738V |
probably benign |
Het |
| Gas2l2 |
T |
A |
11: 83,313,031 (GRCm39) |
R760S |
probably damaging |
Het |
| H1f7 |
C |
T |
15: 98,155,138 (GRCm39) |
A4T |
probably damaging |
Het |
| Kif17 |
G |
A |
4: 138,005,253 (GRCm39) |
V273I |
probably damaging |
Het |
| Klhdc4 |
T |
C |
8: 122,526,224 (GRCm39) |
D336G |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,568 (GRCm39) |
N181S |
probably benign |
Het |
| Lrp8 |
G |
A |
4: 107,700,515 (GRCm39) |
G151D |
possibly damaging |
Het |
| Mb21d2 |
C |
T |
16: 28,647,261 (GRCm39) |
V238M |
probably damaging |
Het |
| Mfsd4b3-ps |
T |
G |
10: 39,823,247 (GRCm39) |
I338L |
probably benign |
Het |
| Nkain2 |
C |
T |
10: 32,766,125 (GRCm39) |
A112T |
unknown |
Het |
| Or14c41 |
T |
A |
7: 86,235,247 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,583 (GRCm39) |
I307F |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,875 (GRCm39) |
V210E |
possibly damaging |
Het |
| Or5i1 |
A |
G |
2: 87,612,883 (GRCm39) |
I2V |
probably benign |
Het |
| Pacs2 |
A |
G |
12: 113,010,727 (GRCm39) |
I126V |
probably benign |
Het |
| Phyhipl |
T |
C |
10: 70,395,243 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Ppm1k |
T |
C |
6: 57,487,720 (GRCm39) |
S368G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,787,163 (GRCm39) |
D1063G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,449,438 (GRCm39) |
M322T |
probably benign |
Het |
| Serbp1 |
G |
A |
6: 67,244,313 (GRCm39) |
R78H |
probably benign |
Het |
| Sfxn2 |
T |
A |
19: 46,574,192 (GRCm39) |
N127K |
probably damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,423,898 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,108,342 (GRCm39) |
Y491C |
probably damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,052 (GRCm39) |
I6F |
probably damaging |
Het |
| Smpd1 |
C |
T |
7: 105,204,789 (GRCm39) |
L223F |
probably damaging |
Het |
| Spem1 |
T |
C |
11: 69,711,741 (GRCm39) |
K308E |
probably benign |
Het |
| Spsb1 |
A |
T |
4: 149,990,907 (GRCm39) |
C220* |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,173,962 (GRCm39) |
S190R |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,339,719 (GRCm39) |
S705P |
possibly damaging |
Het |
| Tbc1d16 |
G |
T |
11: 119,044,781 (GRCm39) |
F553L |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,910,435 (GRCm39) |
Y55H |
probably damaging |
Het |
| Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
| Tut7 |
G |
A |
13: 59,963,512 (GRCm39) |
T282I |
probably damaging |
Het |
| Txnl1 |
T |
C |
18: 63,810,050 (GRCm39) |
N131S |
probably benign |
Het |
| Vat1 |
T |
C |
11: 101,353,846 (GRCm39) |
T175A |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,029,066 (GRCm39) |
D651V |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,554,500 (GRCm39) |
S493T |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGAAGTCATTGTTTGGTAAGGC -3'
(R):5'- TACCCAAGTCATGATGCTATATGC -3'
Sequencing Primer
(F):5'- AAGTCATTGTTTGGTAAGGCTTTAG -3'
(R):5'- TAACTCAGAGCACTTGTGGC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation