Incidental Mutation 'R8027:Abhd18'
ID |
617752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abhd18
|
Ensembl Gene |
ENSMUSG00000037818 |
Gene Name |
abhydrolase domain containing 18 |
Synonyms |
3110057O12Rik |
MMRRC Submission |
067466-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R8027 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40888158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 334
(T334I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108077]
[ENSMUST00000108078]
[ENSMUST00000159774]
[ENSMUST00000204496]
[ENSMUST00000205065]
|
AlphaFold |
Q8C1A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108077
AA Change: T334I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103712 Gene: ENSMUSG00000037818 AA Change: T334I
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: T334I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103713 Gene: ENSMUSG00000037818 AA Change: T334I
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: T334I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124430 Gene: ENSMUSG00000037818 AA Change: T334I
Domain | Start | End | E-Value | Type |
Pfam:DUF2048
|
16 |
457 |
1.3e-171 |
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 |
|
Meta Mutation Damage Score |
0.2304 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,272,574 (GRCm39) |
N527S |
probably damaging |
Het |
Aldh5a1 |
A |
T |
13: 25,110,093 (GRCm39) |
Y147* |
probably null |
Het |
Astn2 |
A |
C |
4: 65,459,208 (GRCm39) |
V1121G |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,747,809 (GRCm39) |
Y364N |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,906,962 (GRCm39) |
L685H |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 143,024,046 (GRCm39) |
L248P |
possibly damaging |
Het |
Calcoco2 |
A |
T |
11: 95,991,241 (GRCm39) |
|
probably benign |
Het |
Cog1 |
T |
C |
11: 113,543,215 (GRCm39) |
L241P |
probably damaging |
Het |
Fam107a |
A |
T |
14: 8,298,813 (GRCm38) |
|
probably benign |
Het |
Fam161a |
A |
T |
11: 22,970,125 (GRCm39) |
K101M |
probably damaging |
Het |
Fancd2 |
C |
T |
6: 113,523,583 (GRCm39) |
T240I |
probably damaging |
Het |
Fbxl8 |
C |
T |
8: 105,994,758 (GRCm39) |
T90I |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,790,983 (GRCm39) |
V998A |
probably benign |
Het |
Fut1 |
G |
A |
7: 45,268,289 (GRCm39) |
G81E |
probably damaging |
Het |
Gapdh |
A |
G |
6: 125,139,331 (GRCm39) |
V285A |
probably benign |
Het |
Gm5591 |
T |
C |
7: 38,221,722 (GRCm39) |
T116A |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,279,727 (GRCm39) |
E145G |
probably benign |
Het |
Grik1 |
T |
G |
16: 87,732,893 (GRCm39) |
T660P |
|
Het |
Gzmk |
T |
A |
13: 113,308,434 (GRCm39) |
K256* |
probably null |
Het |
Hsp90b1 |
A |
G |
10: 86,532,594 (GRCm39) |
S361P |
probably damaging |
Het |
Inpp5f |
T |
C |
7: 128,292,397 (GRCm39) |
S645P |
probably damaging |
Het |
Izumo1 |
T |
C |
7: 45,275,678 (GRCm39) |
V329A |
probably benign |
Het |
Leng8 |
CT |
C |
7: 4,145,855 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
A |
3: 86,325,219 (GRCm39) |
D1892E |
probably benign |
Het |
Lztr1 |
T |
C |
16: 17,329,976 (GRCm39) |
S101P |
probably damaging |
Het |
Mark4 |
T |
C |
7: 19,181,164 (GRCm39) |
D145G |
possibly damaging |
Het |
Nudt9 |
T |
A |
5: 104,212,793 (GRCm39) |
|
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,629 (GRCm39) |
I118F |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,536,069 (GRCm39) |
S688P |
possibly damaging |
Het |
Prpf40a |
A |
G |
2: 53,081,150 (GRCm39) |
M17T |
probably benign |
Het |
Psg29 |
G |
A |
7: 16,942,565 (GRCm39) |
V189M |
possibly damaging |
Het |
Ptprm |
T |
C |
17: 67,251,200 (GRCm39) |
Y559C |
probably damaging |
Het |
Rimoc1 |
T |
C |
15: 4,015,694 (GRCm39) |
Q290R |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,462,856 (GRCm39) |
Y1060C |
probably damaging |
Het |
Sh3pxd2b |
C |
T |
11: 32,372,210 (GRCm39) |
T459M |
probably benign |
Het |
Skint4 |
G |
T |
4: 112,015,182 (GRCm39) |
|
probably null |
Het |
Skint8 |
T |
A |
4: 111,785,936 (GRCm39) |
D127E |
probably benign |
Het |
Slc13a2 |
T |
A |
11: 78,295,582 (GRCm39) |
M95L |
probably benign |
Het |
Slc5a2 |
A |
G |
7: 127,869,718 (GRCm39) |
M384V |
probably damaging |
Het |
Timd5 |
T |
C |
11: 46,428,744 (GRCm39) |
I222T |
probably benign |
Het |
Tmem198 |
A |
T |
1: 75,456,706 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,727,060 (GRCm39) |
I5835T |
unknown |
Het |
Tulp3 |
T |
C |
6: 128,311,436 (GRCm39) |
D73G |
probably benign |
Het |
Ube2e2 |
A |
C |
14: 18,574,317 (GRCm38) |
W195G |
possibly damaging |
Het |
Utp25 |
A |
G |
1: 192,800,530 (GRCm39) |
V430A |
probably benign |
Het |
Wwp2 |
C |
A |
8: 108,282,109 (GRCm39) |
H768N |
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 |
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 |
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'- GACACGAGTTCATGAATCACTTGC -3'
(R):5'- AAATGTTCCAGATGTTCCCAGTTTC -3'
Sequencing Primer
(F):5'- GAGTTCATGAATCACTTGCCTAGC -3'
(R):5'- ACCTGAGAAGTTTGCTACGTGAGTAC -3'
|
Posted On |
2020-01-23 |