Incidental Mutation 'IGL00515:Abhd8'
ID |
5025 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abhd8
|
Ensembl Gene |
ENSMUSG00000007950 |
Gene Name |
abhydrolase domain containing 8 |
Synonyms |
0910001L24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00515
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
71909349-71916299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71909963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 395
(E395G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008094]
|
AlphaFold |
Q8R0P8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008094
AA Change: E395G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008094 Gene: ENSMUSG00000007950 AA Change: E395G
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
low complexity region
|
139 |
148 |
N/A |
INTRINSIC |
Pfam:Hydrolase_4
|
164 |
397 |
2e-17 |
PFAM |
Pfam:Abhydrolase_1
|
168 |
289 |
1.2e-19 |
PFAM |
Pfam:Abhydrolase_5
|
168 |
391 |
2.4e-20 |
PFAM |
Pfam:Abhydrolase_6
|
170 |
403 |
1.4e-17 |
PFAM |
low complexity region
|
411 |
435 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212503
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,662,746 (GRCm39) |
N372K |
probably damaging |
Het |
C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
Hmgxb4 |
C |
A |
8: 75,727,539 (GRCm39) |
P174Q |
probably damaging |
Het |
Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
Nfatc1 |
G |
T |
18: 80,710,241 (GRCm39) |
H508Q |
probably damaging |
Het |
Pabir1 |
T |
C |
19: 24,453,996 (GRCm39) |
D242G |
probably damaging |
Het |
Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
Rln1 |
C |
T |
19: 29,309,414 (GRCm39) |
V122I |
possibly damaging |
Het |
Slc22a28 |
T |
C |
19: 8,094,428 (GRCm39) |
I198V |
probably benign |
Het |
Slco1c1 |
G |
A |
6: 141,515,208 (GRCm39) |
R702H |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
Other mutations in Abhd8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01780:Abhd8
|
APN |
8 |
71,914,121 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02350:Abhd8
|
APN |
8 |
71,914,121 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02357:Abhd8
|
APN |
8 |
71,914,121 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4142001:Abhd8
|
UTSW |
8 |
71,914,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R0135:Abhd8
|
UTSW |
8 |
71,910,718 (GRCm39) |
missense |
probably benign |
0.20 |
R0142:Abhd8
|
UTSW |
8 |
71,914,506 (GRCm39) |
missense |
probably damaging |
0.96 |
R1006:Abhd8
|
UTSW |
8 |
71,911,085 (GRCm39) |
missense |
probably benign |
0.19 |
R1411:Abhd8
|
UTSW |
8 |
71,914,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Abhd8
|
UTSW |
8 |
71,914,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1937:Abhd8
|
UTSW |
8 |
71,914,506 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1985:Abhd8
|
UTSW |
8 |
71,916,157 (GRCm39) |
unclassified |
probably benign |
|
R3724:Abhd8
|
UTSW |
8 |
71,914,136 (GRCm39) |
missense |
probably benign |
0.14 |
R5254:Abhd8
|
UTSW |
8 |
71,911,042 (GRCm39) |
nonsense |
probably null |
|
R5770:Abhd8
|
UTSW |
8 |
71,909,972 (GRCm39) |
missense |
probably benign |
0.07 |
R6030:Abhd8
|
UTSW |
8 |
71,910,794 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6030:Abhd8
|
UTSW |
8 |
71,910,794 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6474:Abhd8
|
UTSW |
8 |
71,914,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R6501:Abhd8
|
UTSW |
8 |
71,914,165 (GRCm39) |
nonsense |
probably null |
|
R6769:Abhd8
|
UTSW |
8 |
71,914,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R6771:Abhd8
|
UTSW |
8 |
71,914,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R7406:Abhd8
|
UTSW |
8 |
71,914,406 (GRCm39) |
missense |
probably benign |
|
R7770:Abhd8
|
UTSW |
8 |
71,910,894 (GRCm39) |
missense |
probably benign |
0.09 |
R8268:Abhd8
|
UTSW |
8 |
71,909,961 (GRCm39) |
missense |
probably benign |
0.02 |
R9128:Abhd8
|
UTSW |
8 |
71,914,389 (GRCm39) |
missense |
probably benign |
0.00 |
R9305:Abhd8
|
UTSW |
8 |
71,911,148 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9366:Abhd8
|
UTSW |
8 |
71,914,328 (GRCm39) |
missense |
probably benign |
0.18 |
Z1088:Abhd8
|
UTSW |
8 |
71,914,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-04-20 |