Incidental Mutation 'R6769:Abhd8'
| ID |
532090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd8
|
| Ensembl Gene |
ENSMUSG00000007950 |
| Gene Name |
abhydrolase domain containing 8 |
| Synonyms |
0910001L24Rik |
| MMRRC Submission |
044885-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6769 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71909349-71916299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 71914105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 174
(H174Q)
|
| 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: H174Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: H174Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
C |
A |
6: 116,392,145 (GRCm39) |
|
probably null |
Het |
| Amer3 |
C |
A |
1: 34,627,330 (GRCm39) |
A523D |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
| C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 76,996,258 (GRCm39) |
V1101A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
| Gm7361 |
T |
A |
5: 26,462,767 (GRCm39) |
L3* |
probably null |
Het |
| Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
| Ighv2-9 |
A |
T |
12: 113,842,930 (GRCm39) |
F46I |
possibly damaging |
Het |
| Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
| Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
| Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,319,196 (GRCm39) |
N273S |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,785,666 (GRCm39) |
|
|
Het |
| Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
| Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,839,920 (GRCm39) |
I265K |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
| Rassf4 |
T |
A |
6: 116,618,433 (GRCm39) |
D215V |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
| Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,445 (GRCm39) |
N1550D |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc30a5 |
A |
C |
13: 100,950,368 (GRCm39) |
S240A |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,393,184 (GRCm39) |
V205A |
possibly damaging |
Het |
| Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,313,856 (GRCm39) |
S155T |
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 |
|
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 |
|
|
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'- GAAGATGGCCCTCATATCCTC -3'
(R):5'- ATCACAGTGTACCGCAACG -3'
Sequencing Primer
(F):5'- CCTCTGCCAATGCGTAAAAGGTG -3'
(R):5'- TCGTGCCGACCTGCAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation