Incidental Mutation 'R1006:Abhd8'
| ID |
95756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd8
|
| Ensembl Gene |
ENSMUSG00000007950 |
| Gene Name |
abhydrolase domain containing 8 |
| Synonyms |
0910001L24Rik |
| MMRRC Submission |
039116-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1006 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71909349-71916299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71911085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 282
(I282N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008094]
|
| AlphaFold |
Q8R0P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008094
AA Change: I282N
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: I282N
| 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
|
| Meta Mutation Damage Score |
0.6812 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 93.4%
- 20x: 82.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c18 |
T |
C |
13: 4,186,654 (GRCm39) |
I265V |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,210,706 (GRCm39) |
I1788V |
probably benign |
Het |
| Cacng7 |
T |
A |
7: 3,415,445 (GRCm39) |
I270N |
possibly damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,170,328 (GRCm39) |
I138V |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,311,342 (GRCm39) |
K983E |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,383,331 (GRCm39) |
S1770P |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,201,973 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
G |
A |
7: 87,959,037 (GRCm39) |
R439H |
probably damaging |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,930 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,514 (GRCm39) |
I181V |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,343,183 (GRCm39) |
S567C |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,058,510 (GRCm39) |
S370P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,546,527 (GRCm39) |
V1018A |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,758,993 (GRCm39) |
A952V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,756,326 (GRCm39) |
E340K |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,084,826 (GRCm39) |
I141N |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,892 (GRCm39) |
V654A |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,638 (GRCm39) |
C179S |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,826 (GRCm39) |
S890G |
probably benign |
Het |
| Psmd14 |
T |
A |
2: 61,627,726 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
G |
5: 103,734,655 (GRCm39) |
D2129G |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,499,199 (GRCm39) |
T760M |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,975,041 (GRCm39) |
I317V |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,337 (GRCm39) |
H767Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,184,114 (GRCm39) |
G114D |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,681,577 (GRCm39) |
D2684E |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,362 (GRCm39) |
T1201A |
possibly damaging |
Het |
| Vax2 |
T |
C |
6: 83,714,759 (GRCm39) |
S225P |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,833,196 (GRCm39) |
|
probably null |
Het |
| Washc5 |
T |
A |
15: 59,241,035 (GRCm39) |
Q100L |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,241,036 (GRCm39) |
Q100K |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,663,404 (GRCm39) |
Y1051C |
unknown |
Het |
| Zswim2 |
G |
A |
2: 83,745,737 (GRCm39) |
S567L |
probably damaging |
Het |
|
| Other mutations in Abhd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Abhd8
|
APN |
8 |
71,909,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTGAACGCATTGCCCTCC -3'
(R):5'- AAGCACTGTCTGTGTCCTGCTTAC -3'
Sequencing Primer
(F):5'- ATGCGAAGATGTCATTTGAGCC -3'
(R):5'- ACTCGGATTCTTCCATCCCTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation