Incidental Mutation 'IGL02263:Agmo'
ID |
286813 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Agmo
|
Ensembl Gene |
ENSMUSG00000050103 |
Gene Name |
alkylglycerol monooxygenase |
Synonyms |
Tmem195, A530016O06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL02263
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
37291640-37632201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37407696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 193
(N193K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049874]
[ENSMUST00000159998]
[ENSMUST00000160390]
|
AlphaFold |
Q8BS35 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049874
AA Change: N193K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051441 Gene: ENSMUSG00000050103 AA Change: N193K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
61 |
N/A |
INTRINSIC |
Pfam:FA_hydroxylase
|
117 |
249 |
2.5e-29 |
PFAM |
transmembrane domain
|
364 |
383 |
N/A |
INTRINSIC |
transmembrane domain
|
411 |
433 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159998
AA Change: N193K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123801 Gene: ENSMUSG00000050103 AA Change: N193K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
61 |
N/A |
INTRINSIC |
Pfam:FA_hydroxylase
|
117 |
226 |
7e-21 |
PFAM |
transmembrane domain
|
364 |
383 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160158
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160390
AA Change: N193K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125639 Gene: ENSMUSG00000050103 AA Change: N193K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
61 |
N/A |
INTRINSIC |
Pfam:FA_hydroxylase
|
117 |
226 |
7.1e-21 |
PFAM |
transmembrane domain
|
364 |
383 |
N/A |
INTRINSIC |
|
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 is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
A |
G |
1: 38,574,680 (GRCm39) |
V100A |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,948,139 (GRCm39) |
I1910V |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,723,077 (GRCm39) |
S368T |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,292,259 (GRCm39) |
T1270A |
probably benign |
Het |
Ina |
T |
C |
19: 47,003,926 (GRCm39) |
S245P |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,816,703 (GRCm39) |
K96R |
probably damaging |
Het |
Kcnj4 |
A |
G |
15: 79,369,988 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,525 (GRCm39) |
H601R |
possibly damaging |
Het |
Lrrc25 |
C |
A |
8: 71,070,472 (GRCm39) |
F84L |
probably benign |
Het |
Ltb |
A |
G |
17: 35,414,977 (GRCm39) |
Y259C |
probably damaging |
Het |
Macc1 |
T |
G |
12: 119,409,752 (GRCm39) |
N173K |
possibly damaging |
Het |
Med17 |
A |
T |
9: 15,178,772 (GRCm39) |
N466K |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,244,987 (GRCm39) |
N570K |
probably damaging |
Het |
Or52ae9 |
A |
T |
7: 103,390,262 (GRCm39) |
F62I |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,486,543 (GRCm39) |
C241S |
probably damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,546 (GRCm39) |
Y95F |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,478,692 (GRCm39) |
|
probably benign |
Het |
Ptprk |
G |
A |
10: 27,951,110 (GRCm39) |
V12I |
unknown |
Het |
Rabggta |
G |
A |
14: 55,956,418 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
A |
G |
10: 83,149,364 (GRCm39) |
V193A |
possibly damaging |
Het |
Thbs1 |
A |
G |
2: 117,950,361 (GRCm39) |
N665D |
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Vmn1r91 |
A |
G |
7: 19,835,768 (GRCm39) |
D229G |
probably benign |
Het |
Vmn2r7 |
A |
C |
3: 64,598,868 (GRCm39) |
V654G |
probably damaging |
Het |
|
Other mutations in Agmo |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00988:Agmo
|
APN |
12 |
37,407,716 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01412:Agmo
|
APN |
12 |
37,452,140 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01682:Agmo
|
APN |
12 |
37,407,626 (GRCm39) |
splice site |
probably benign |
|
IGL02478:Agmo
|
APN |
12 |
37,451,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02803:Agmo
|
APN |
12 |
37,302,480 (GRCm39) |
missense |
probably benign |
0.00 |
R0664:Agmo
|
UTSW |
12 |
37,302,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R2158:Agmo
|
UTSW |
12 |
37,407,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R3440:Agmo
|
UTSW |
12 |
37,293,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R5263:Agmo
|
UTSW |
12 |
37,407,680 (GRCm39) |
missense |
probably benign |
0.01 |
R6249:Agmo
|
UTSW |
12 |
37,293,837 (GRCm39) |
critical splice donor site |
probably null |
|
R6251:Agmo
|
UTSW |
12 |
37,302,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R7513:Agmo
|
UTSW |
12 |
37,294,352 (GRCm39) |
missense |
probably benign |
0.01 |
R7686:Agmo
|
UTSW |
12 |
37,469,973 (GRCm39) |
missense |
probably benign |
0.00 |
R7729:Agmo
|
UTSW |
12 |
37,464,974 (GRCm39) |
missense |
probably benign |
0.00 |
R7731:Agmo
|
UTSW |
12 |
37,464,939 (GRCm39) |
missense |
probably benign |
0.01 |
R7849:Agmo
|
UTSW |
12 |
37,292,044 (GRCm39) |
missense |
probably benign |
0.03 |
R7852:Agmo
|
UTSW |
12 |
37,292,051 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8071:Agmo
|
UTSW |
12 |
37,448,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R8089:Agmo
|
UTSW |
12 |
37,397,306 (GRCm39) |
missense |
probably benign |
0.03 |
R8511:Agmo
|
UTSW |
12 |
37,294,396 (GRCm39) |
makesense |
probably null |
|
R8534:Agmo
|
UTSW |
12 |
37,302,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Agmo
|
UTSW |
12 |
37,407,673 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8845:Agmo
|
UTSW |
12 |
37,294,364 (GRCm39) |
missense |
probably benign |
0.18 |
R9378:Agmo
|
UTSW |
12 |
37,293,720 (GRCm39) |
missense |
probably benign |
0.01 |
R9428:Agmo
|
UTSW |
12 |
37,455,330 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2015-04-16 |