Incidental Mutation 'R6474:Abhd8'
ID |
516734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abhd8
|
Ensembl Gene |
ENSMUSG00000007950 |
Gene Name |
abhydrolase domain containing 8 |
Synonyms |
0910001L24Rik |
MMRRC Submission |
044607-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6474 (G1)
|
Quality Score |
84.0076 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71909349-71916299 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71914359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 90
(N90Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008094]
[ENSMUST00000048914]
|
AlphaFold |
Q8R0P8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008094
AA Change: N90Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000008094 Gene: ENSMUSG00000007950 AA Change: N90Y
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 |
probably benign
Transcript: ENSMUST00000048914
|
SMART Domains |
Protein: ENSMUSP00000044497 Gene: ENSMUSG00000034880
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L34
|
49 |
92 |
1.6e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212503
|
Meta Mutation Damage Score |
0.2506 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly 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 |
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 |
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'- ACTCCGTGAATGAAGAACAGC -3'
(R):5'- AGAGTGTCGAGTCCAGTGAC -3'
Sequencing Primer
(F):5'- ACCCTTGCAGCTGGTGATG -3'
(R):5'- AGTGACGGCTACACATTCG -3'
|
Posted On |
2018-05-21 |