Incidental Mutation 'R6771:Abhd8'
ID |
532172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abhd8
|
Ensembl Gene |
ENSMUSG00000007950 |
Gene Name |
abhydrolase domain containing 8 |
Synonyms |
0910001L24Rik |
MMRRC Submission |
044887-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6771 (G1)
|
Quality Score |
189.009 |
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: 98.7%
- 20x: 96.3%
|
Validation Efficiency |
95% (37/39) |
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 |
Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
Apol8 |
A |
T |
15: 77,637,258 (GRCm39) |
|
probably null |
Het |
Arvcf |
A |
G |
16: 18,222,614 (GRCm39) |
T792A |
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 |
Clmn |
A |
G |
12: 104,740,041 (GRCm39) |
V962A |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
Cyb5a |
T |
A |
18: 84,889,755 (GRCm39) |
H61Q |
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 |
Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
Ftsj3 |
T |
C |
11: 106,140,366 (GRCm39) |
K801E |
probably damaging |
Het |
Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
Ighv2-9 |
T |
G |
12: 113,842,807 (GRCm39) |
S87R |
probably 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 |
Marchf8 |
T |
C |
6: 116,379,004 (GRCm39) |
S313P |
probably benign |
Het |
Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
Or7g35 |
C |
T |
9: 19,496,675 (GRCm39) |
L281F |
probably benign |
Het |
Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,018,222 (GRCm39) |
|
probably null |
Het |
Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Sp110 |
C |
T |
1: 85,520,000 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- GTGAAGATGGCCCTCATATCCTC -3'
(R):5'- ATCACAGTGTACCGCAACG -3'
Sequencing Primer
(F):5'- CCTCTGCCAATGCGTAAAAGGTG -3'
(R):5'- TCGTGCCGACCTGCAAG -3'
|
Posted On |
2018-08-29 |