Incidental Mutation 'IGL02949:Abhd5'
| ID |
364872 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abhd5
|
| Ensembl Gene |
ENSMUSG00000032540 |
| Gene Name |
abhydrolase domain containing 5 |
| Synonyms |
2010002J10Rik, 1300003D03Rik, CGI-58, IECN5, NCIE2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122180681-122210589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122206980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 89
(F89L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035128]
[ENSMUST00000111497]
[ENSMUST00000156520]
[ENSMUST00000175973]
|
| AlphaFold |
Q9DBL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035128
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111497
AA Change: F89L
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540
AA Change: F89L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_6
|
3 |
189 |
7.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156520
AA Change: F242L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: F242L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
75 |
246 |
4.1e-11 |
PFAM |
|
Pfam:Abhydrolase_1
|
78 |
208 |
6e-20 |
PFAM |
|
Pfam:Abhydrolase_5
|
79 |
330 |
6.7e-11 |
PFAM |
|
Pfam:Abhydrolase_6
|
80 |
342 |
8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177015
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| B4galt2 |
C |
T |
4: 117,738,602 (GRCm39) |
A72T |
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,857,938 (GRCm39) |
Y1081C |
probably damaging |
Het |
| Coq8b |
T |
C |
7: 26,956,038 (GRCm39) |
V405A |
possibly damaging |
Het |
| Ddah2 |
A |
G |
17: 35,280,776 (GRCm39) |
K251E |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,272,331 (GRCm39) |
V1045A |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,332,476 (GRCm39) |
M662K |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,483,064 (GRCm39) |
N198S |
probably benign |
Het |
| Hnrnpa1 |
T |
C |
15: 103,150,538 (GRCm39) |
V163A |
probably damaging |
Het |
| Hr |
C |
T |
14: 70,797,225 (GRCm39) |
R543C |
possibly damaging |
Het |
| Lct |
C |
T |
1: 128,240,869 (GRCm39) |
V245M |
probably benign |
Het |
| Lpl |
G |
A |
8: 69,345,400 (GRCm39) |
V135M |
probably damaging |
Het |
| Mblac1 |
T |
A |
5: 138,193,119 (GRCm39) |
C154S |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,793,039 (GRCm39) |
F396S |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,293,168 (GRCm39) |
H314L |
probably damaging |
Het |
| Msantd4 |
T |
A |
9: 4,385,196 (GRCm39) |
L307Q |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,878 (GRCm39) |
D662G |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,109,837 (GRCm39) |
S1648N |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,366,427 (GRCm39) |
I209V |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,549,590 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
T |
A |
10: 89,496,163 (GRCm39) |
N229I |
possibly damaging |
Het |
| Spryd3 |
C |
T |
15: 102,026,544 (GRCm39) |
E376K |
probably benign |
Het |
| Srr |
T |
G |
11: 74,799,563 (GRCm39) |
E304A |
probably benign |
Het |
| Srsf1 |
A |
G |
11: 87,940,352 (GRCm39) |
|
probably benign |
Het |
| Txnrd2 |
T |
G |
16: 18,296,456 (GRCm39) |
S473A |
probably benign |
Het |
| Wdr18 |
T |
A |
10: 79,800,889 (GRCm39) |
C151S |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,874,848 (GRCm39) |
T351I |
probably damaging |
Het |
|
| Other mutations in Abhd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Abhd5
|
APN |
9 |
122,197,146 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02143:Abhd5
|
APN |
9 |
122,194,278 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
IGL03248:Abhd5
|
APN |
9 |
122,197,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0363:Abhd5
|
UTSW |
9 |
122,197,211 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1519:Abhd5
|
UTSW |
9 |
122,208,079 (GRCm39) |
splice site |
probably null |
|
|
R2108:Abhd5
|
UTSW |
9 |
122,207,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Abhd5
|
UTSW |
9 |
122,192,865 (GRCm39) |
splice site |
probably null |
|
|
R5048:Abhd5
|
UTSW |
9 |
122,206,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Abhd5
|
UTSW |
9 |
122,192,868 (GRCm39) |
splice site |
probably null |
|
|
R6141:Abhd5
|
UTSW |
9 |
122,206,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6901:Abhd5
|
UTSW |
9 |
122,197,220 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7296:Abhd5
|
UTSW |
9 |
122,208,638 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8432:Abhd5
|
UTSW |
9 |
122,197,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8984:Abhd5
|
UTSW |
9 |
122,180,880 (GRCm39) |
missense |
probably benign |
|
|
R9050:Abhd5
|
UTSW |
9 |
122,208,605 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9116:Abhd5
|
UTSW |
9 |
122,196,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9464:Abhd5
|
UTSW |
9 |
122,208,029 (GRCm39) |
missense |
probably benign |
|
|
R9617:Abhd5
|
UTSW |
9 |
122,197,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9625:Abhd5
|
UTSW |
9 |
122,208,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation