Incidental Mutation 'IGL01780:Abhd8'
| ID |
154166 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abhd8
|
| Ensembl Gene |
ENSMUSG00000007950 |
| Gene Name |
abhydrolase domain containing 8 |
| Synonyms |
0910001L24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71909349-71916299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71914121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 169
(V169A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008094]
[ENSMUST00000048914]
|
| AlphaFold |
Q8R0P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008094
AA Change: V169A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: V169A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
| BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
| Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
| Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
| Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,355 (GRCm39) |
T118A |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
| Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
| Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,952,327 (GRCm39) |
S468R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
| Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
| Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
| Rpusd4 |
G |
A |
9: 35,179,720 (GRCm39) |
R71Q |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
| Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation