Incidental Mutation 'R5259:Abhd18'
| ID |
401285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd18
|
| Ensembl Gene |
ENSMUSG00000037818 |
| Gene Name |
abhydrolase domain containing 18 |
| Synonyms |
3110057O12Rik |
| MMRRC Submission |
042856-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5259 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 40871325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 50
(T50P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108077]
[ENSMUST00000108078]
[ENSMUST00000159774]
[ENSMUST00000203214]
[ENSMUST00000203472]
[ENSMUST00000203650]
[ENSMUST00000203892]
[ENSMUST00000205065]
[ENSMUST00000204496]
|
| AlphaFold |
Q8C1A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108077
AA Change: T126P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103712
Gene: ENSMUSG00000037818
AA Change: T126P
| 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: T126P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103713
Gene: ENSMUSG00000037818
AA Change: T126P
| 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: ENSMUST00000159421
AA Change: T126P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124834
Gene: ENSMUSG00000037818
AA Change: T126P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
8.2e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159774
AA Change: T126P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124430
Gene: ENSMUSG00000037818
AA Change: T126P
| 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 damaging
Transcript: ENSMUST00000203472
AA Change: T50P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145313
Gene: ENSMUSG00000037818
AA Change: T50P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
1 |
75 |
1.1e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203650
AA Change: T50P
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145006
Gene: ENSMUSG00000037818
AA Change: T50P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
1 |
130 |
8.8e-71 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203892
AA Change: T126P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145150
Gene: ENSMUSG00000037818
AA Change: T126P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205065
AA Change: T126P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145095
Gene: ENSMUSG00000037818
AA Change: T126P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2048
|
16 |
151 |
7.8e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204797
|
| 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 |
|
| Meta Mutation Damage Score |
0.2800 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
A |
8: 25,300,850 (GRCm39) |
L226F |
possibly damaging |
Het |
| Adi1 |
T |
C |
12: 28,725,544 (GRCm39) |
|
probably benign |
Het |
| Apc |
T |
C |
18: 34,447,343 (GRCm39) |
V1379A |
probably benign |
Het |
| Atp13a4 |
G |
A |
16: 29,275,428 (GRCm39) |
T352M |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,490,070 (GRCm39) |
N338I |
probably benign |
Het |
| Bdnf |
A |
G |
2: 109,554,327 (GRCm39) |
T234A |
probably benign |
Het |
| Catsperd |
A |
C |
17: 56,967,235 (GRCm39) |
T539P |
possibly damaging |
Het |
| Cd109 |
A |
T |
9: 78,617,434 (GRCm39) |
T1311S |
probably benign |
Het |
| Ceacam18 |
T |
C |
7: 43,286,536 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
T |
C |
8: 46,415,373 (GRCm39) |
E211G |
probably benign |
Het |
| Cfhr4 |
C |
T |
1: 139,668,233 (GRCm39) |
C300Y |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,543,318 (GRCm39) |
S819T |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,431,614 (GRCm39) |
R1557S |
unknown |
Het |
| Ddx18 |
A |
G |
1: 121,495,518 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
| Fam13c |
C |
G |
10: 70,276,893 (GRCm39) |
A17G |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,748,685 (GRCm39) |
Y646C |
probably damaging |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,110 (GRCm39) |
S229P |
probably benign |
Het |
| Gbp8 |
A |
T |
5: 105,198,845 (GRCm39) |
H23Q |
probably benign |
Het |
| Gdf2 |
T |
C |
14: 33,666,788 (GRCm39) |
V170A |
probably benign |
Het |
| Gm15723 |
T |
C |
10: 114,652,722 (GRCm39) |
|
noncoding transcript |
Het |
| Gm815 |
G |
A |
19: 26,863,806 (GRCm39) |
V16I |
unknown |
Het |
| Ighv1-75 |
T |
A |
12: 115,797,797 (GRCm39) |
K42* |
probably null |
Het |
| Isx |
A |
G |
8: 75,619,473 (GRCm39) |
T222A |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,747,450 (GRCm39) |
D1018N |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,401 (GRCm39) |
F349S |
probably damaging |
Het |
| Lama3 |
A |
C |
18: 12,598,565 (GRCm39) |
S991R |
probably damaging |
Het |
| Larp4b |
C |
T |
13: 9,208,220 (GRCm39) |
A398V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,670,357 (GRCm39) |
N1466S |
probably benign |
Het |
| Metrn |
A |
T |
17: 26,015,514 (GRCm39) |
L67Q |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,451,132 (GRCm39) |
R937Q |
probably benign |
Het |
| Mta3 |
A |
G |
17: 84,112,003 (GRCm39) |
Y577C |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,753,063 (GRCm39) |
F308L |
possibly damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,873 (GRCm39) |
S87T |
probably benign |
Het |
| Oplah |
A |
T |
15: 76,185,410 (GRCm39) |
|
probably null |
Het |
| Or2ak6 |
A |
G |
11: 58,592,778 (GRCm39) |
N84D |
probably benign |
Het |
| Or2ak6 |
A |
C |
11: 58,592,779 (GRCm39) |
N84T |
possibly damaging |
Het |
| Or7e166 |
A |
G |
9: 19,624,109 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,232,204 (GRCm39) |
I668L |
possibly damaging |
Het |
| Pecr |
A |
G |
1: 72,316,444 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,493,956 (GRCm39) |
E220G |
possibly damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,199 (GRCm39) |
K61R |
unknown |
Het |
| Prl8a6 |
C |
T |
13: 27,620,179 (GRCm39) |
W81* |
probably null |
Het |
| Rab33b |
C |
T |
3: 51,392,033 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,557,772 (GRCm39) |
|
probably null |
Het |
| Relch |
A |
G |
1: 105,649,101 (GRCm39) |
S747G |
probably benign |
Het |
| Reln |
C |
T |
5: 22,308,395 (GRCm39) |
V325M |
possibly damaging |
Het |
| Rheb |
A |
C |
5: 25,008,743 (GRCm39) |
D158E |
probably benign |
Het |
| Rhebl1 |
T |
A |
15: 98,778,464 (GRCm39) |
|
probably benign |
Het |
| Rmdn2 |
T |
A |
17: 79,975,446 (GRCm39) |
Y312N |
probably damaging |
Het |
| Scamp1 |
T |
G |
13: 94,368,594 (GRCm39) |
N58T |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,598 (GRCm39) |
C437* |
probably null |
Het |
| Slc35a1 |
C |
T |
4: 34,683,322 (GRCm39) |
V53M |
probably benign |
Het |
| Slc35f3 |
A |
T |
8: 127,115,872 (GRCm39) |
L266F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,344,471 (GRCm39) |
S1445R |
probably benign |
Het |
| Ttc23l |
T |
C |
15: 10,515,236 (GRCm39) |
N381D |
probably damaging |
Het |
| Usp17ld |
T |
A |
7: 102,899,781 (GRCm39) |
K384* |
probably null |
Het |
| Vmn1r20 |
T |
A |
6: 57,409,050 (GRCm39) |
Y125* |
probably null |
Het |
| Zfp738 |
G |
T |
13: 67,817,805 (GRCm39) |
Q729K |
probably benign |
Het |
| Zfp770 |
T |
A |
2: 114,027,674 (GRCm39) |
M132L |
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 |
|
|
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'- GGTACCGACCTGTGTGCATT -3'
(R):5'- AAAGGGCATAAACAGTATTTTCTTCT -3'
Sequencing Primer
(F):5'- TGCATTCATCTGGCTGGAAC -3'
(R):5'- AAGTTAGTTACCATGGGGGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation