Incidental Mutation 'R8268:Abhd8'
ID |
639541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abhd8
|
Ensembl Gene |
ENSMUSG00000007950 |
Gene Name |
abhydrolase domain containing 8 |
Synonyms |
0910001L24Rik |
MMRRC Submission |
067692-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8268 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71909349-71916299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71909961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 396
(C396S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008094]
|
AlphaFold |
Q8R0P8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008094
AA Change: C396S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000008094 Gene: ENSMUSG00000007950 AA Change: C396S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
97% (37/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
Ciapin1 |
A |
G |
8: 95,558,511 (GRCm39) |
V67A |
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,802,057 (GRCm39) |
R2018G |
unknown |
Het |
Dnah11 |
A |
T |
12: 117,991,243 (GRCm39) |
Y2374* |
probably null |
Het |
Dnah7b |
G |
T |
1: 46,395,736 (GRCm39) |
M3879I |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Gm12258 |
A |
C |
11: 58,745,084 (GRCm39) |
|
probably null |
Het |
Hpse |
A |
G |
5: 100,846,907 (GRCm39) |
L174S |
probably damaging |
Het |
Hspa8 |
A |
G |
9: 40,714,448 (GRCm39) |
K248R |
probably damaging |
Het |
Kcnt2 |
A |
C |
1: 140,450,954 (GRCm39) |
R744S |
probably damaging |
Het |
Klhl32 |
G |
A |
4: 24,800,843 (GRCm39) |
|
probably benign |
Het |
Mkrn3 |
A |
G |
7: 62,068,270 (GRCm39) |
L507P |
probably damaging |
Het |
Myom2 |
T |
G |
8: 15,179,157 (GRCm39) |
F1330V |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,216,659 (GRCm38) |
S170P |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,186,407 (GRCm39) |
D388G |
probably damaging |
Het |
Or12e9 |
C |
A |
2: 87,202,332 (GRCm39) |
A152E |
probably damaging |
Het |
Or13a17 |
A |
G |
7: 140,271,430 (GRCm39) |
D204G |
probably damaging |
Het |
Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
Or7a36 |
T |
A |
10: 78,819,831 (GRCm39) |
V69E |
probably damaging |
Het |
Pigg |
T |
A |
5: 108,486,509 (GRCm39) |
S721T |
probably damaging |
Het |
Prr5 |
T |
C |
15: 84,587,192 (GRCm39) |
L323P |
probably benign |
Het |
Rapgef2 |
T |
A |
3: 78,993,263 (GRCm39) |
I742L |
probably benign |
Het |
Rxrb |
A |
G |
17: 34,254,750 (GRCm39) |
S302G |
probably benign |
Het |
Setd5 |
T |
G |
6: 113,126,651 (GRCm39) |
|
probably null |
Het |
Sh3bgr |
A |
G |
16: 96,025,674 (GRCm39) |
T187A |
unknown |
Het |
Sh3pxd2a |
C |
T |
19: 47,256,033 (GRCm39) |
R923H |
probably benign |
Het |
Slc26a10 |
A |
G |
10: 127,009,491 (GRCm39) |
|
probably null |
Het |
Slc9a1 |
T |
A |
4: 133,097,934 (GRCm39) |
V27E |
probably benign |
Het |
Stard3nl |
A |
G |
13: 19,560,629 (GRCm39) |
S49P |
probably damaging |
Het |
Stxbp2 |
G |
A |
8: 3,682,234 (GRCm39) |
V17I |
|
Het |
Themis3 |
C |
T |
17: 66,862,786 (GRCm39) |
E391K |
probably benign |
Het |
Tia1 |
A |
G |
6: 86,404,996 (GRCm39) |
|
probably benign |
Het |
Tmem167 |
T |
C |
13: 90,252,554 (GRCm39) |
F70S |
probably damaging |
Het |
Trpm6 |
C |
A |
19: 18,851,225 (GRCm39) |
Q1729K |
possibly damaging |
Het |
Tsc2 |
A |
C |
17: 24,818,984 (GRCm39) |
L1285W |
probably benign |
Het |
Uchl4 |
A |
T |
9: 64,142,791 (GRCm39) |
I91F |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,089,476 (GRCm39) |
A573T |
probably damaging |
Het |
Zc2hc1c |
C |
T |
12: 85,336,595 (GRCm39) |
S84F |
probably benign |
Het |
Zfp143 |
A |
G |
7: 109,690,991 (GRCm39) |
D515G |
probably benign |
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 |
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 |
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'- GCCTCTACTACTCAAGATCCAG -3'
(R):5'- GAGGTTGAGAAGTCCAACCC -3'
Sequencing Primer
(F):5'- TCTACTACTCAAGATCCAGGAGTC -3'
(R):5'- CCGGGCATATTATAAGGCGCTTAATG -3'
|
Posted On |
2020-07-28 |