Incidental Mutation 'R0064:Abhd18'
ID |
34391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abhd18
|
Ensembl Gene |
ENSMUSG00000037818 |
Gene Name |
abhydrolase domain containing 18 |
Synonyms |
3110057O12Rik |
MMRRC Submission |
038356-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R0064 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
40825532-40892573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40888288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 377
(I377M)
|
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: I377M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103712 Gene: ENSMUSG00000037818 AA Change: I377M
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: I377M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103713 Gene: ENSMUSG00000037818 AA Change: I377M
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: I377M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124430 Gene: ENSMUSG00000037818 AA Change: I377M
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 |
0.0681 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
G |
T |
11: 110,035,698 (GRCm39) |
L641M |
probably damaging |
Het |
Abca9 |
A |
C |
11: 110,035,697 (GRCm39) |
L641R |
probably damaging |
Het |
Arhgef17 |
C |
A |
7: 100,530,561 (GRCm39) |
M1408I |
probably benign |
Het |
Bcl2a1a |
G |
C |
9: 88,839,516 (GRCm39) |
G138A |
probably damaging |
Het |
C4b |
A |
G |
17: 34,957,830 (GRCm39) |
L617P |
probably damaging |
Het |
Ccdc25 |
T |
A |
14: 66,091,561 (GRCm39) |
I60K |
possibly damaging |
Het |
Cdk1 |
T |
C |
10: 69,180,907 (GRCm39) |
D101G |
probably benign |
Het |
Cdon |
A |
G |
9: 35,400,523 (GRCm39) |
H1079R |
probably benign |
Het |
Cep126 |
A |
T |
9: 8,130,183 (GRCm39) |
|
probably benign |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Crlf3 |
A |
G |
11: 79,948,728 (GRCm39) |
I239T |
possibly damaging |
Het |
Cstf2t |
T |
A |
19: 31,060,699 (GRCm39) |
N78K |
probably damaging |
Het |
Cul1 |
A |
G |
6: 47,479,349 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
G |
2: 104,079,502 (GRCm39) |
T1194P |
probably damaging |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Fbxw14 |
A |
T |
9: 109,116,660 (GRCm39) |
Y16* |
probably null |
Het |
Fgd3 |
T |
G |
13: 49,449,901 (GRCm39) |
D116A |
possibly damaging |
Het |
Gm7168 |
C |
T |
17: 14,170,121 (GRCm39) |
T496I |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Klhl5 |
T |
A |
5: 65,298,631 (GRCm39) |
S137T |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,906,724 (GRCm39) |
N1604K |
probably benign |
Het |
Lpcat1 |
T |
A |
13: 73,662,585 (GRCm39) |
N463K |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,345,356 (GRCm39) |
H120R |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,499,199 (GRCm39) |
S412T |
possibly damaging |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Myo18a |
G |
T |
11: 77,738,170 (GRCm39) |
R1704L |
probably damaging |
Het |
Nlrc3 |
G |
T |
16: 3,781,951 (GRCm39) |
T486K |
possibly damaging |
Het |
Nrip1 |
T |
A |
16: 76,091,558 (GRCm39) |
|
probably benign |
Het |
Nutf2 |
A |
G |
8: 106,605,441 (GRCm39) |
D92G |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,918,292 (GRCm39) |
V6260G |
probably damaging |
Het |
Or10a2 |
T |
C |
7: 106,673,487 (GRCm39) |
F151L |
probably benign |
Het |
Or2ak7 |
G |
A |
11: 58,575,301 (GRCm39) |
V201M |
probably benign |
Het |
Plce1 |
T |
C |
19: 38,769,228 (GRCm39) |
|
probably null |
Het |
Pmpca |
C |
A |
2: 26,285,519 (GRCm39) |
D498E |
probably benign |
Het |
Pnpla7 |
G |
T |
2: 24,887,239 (GRCm39) |
E28* |
probably null |
Het |
Polg |
C |
A |
7: 79,111,632 (GRCm39) |
W206C |
probably damaging |
Het |
Ptprt |
C |
T |
2: 161,769,711 (GRCm39) |
|
probably benign |
Het |
Slc7a14 |
T |
C |
3: 31,281,209 (GRCm39) |
D367G |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,069,912 (GRCm39) |
Y687H |
probably damaging |
Het |
Sybu |
T |
A |
15: 44,536,389 (GRCm39) |
T646S |
probably benign |
Het |
Thbs1 |
A |
T |
2: 117,954,395 (GRCm39) |
|
probably null |
Het |
Tie1 |
A |
G |
4: 118,346,898 (GRCm39) |
V2A |
possibly damaging |
Het |
Tma16 |
A |
T |
8: 66,929,457 (GRCm39) |
I179K |
possibly damaging |
Het |
Tns3 |
G |
A |
11: 8,385,856 (GRCm39) |
Q1381* |
probably null |
Het |
Trank1 |
A |
G |
9: 111,172,263 (GRCm39) |
D84G |
probably damaging |
Het |
Ttc3 |
A |
T |
16: 94,223,106 (GRCm39) |
H197L |
possibly damaging |
Het |
Urb1 |
A |
G |
16: 90,576,028 (GRCm39) |
F843L |
probably benign |
Het |
Vmn1r24 |
T |
G |
6: 57,933,003 (GRCm39) |
I172L |
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 64,012,209 (GRCm39) |
I690N |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,791,053 (GRCm39) |
I82L |
probably benign |
Het |
Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,888 (GRCm39) |
I684N |
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 |
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 |
|
R9461:Abhd18
|
UTSW |
3 |
40,859,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAAGTGCCATAAGTCTGGTAAAA -3'
(R):5'- actgtgcaagctaTATCTCTAGTCCCAA -3'
Sequencing Primer
(F):5'- CTGGTAAAACATCTATCAGTGCTCC -3'
(R):5'- tcccagcacccacagag -3'
|
Posted On |
2013-05-09 |