Incidental Mutation 'R5263:Agmo'
| ID |
401564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agmo
|
| Ensembl Gene |
ENSMUSG00000050103 |
| Gene Name |
alkylglycerol monooxygenase |
| Synonyms |
Tmem195, A530016O06Rik |
| MMRRC Submission |
042831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
37291640-37632201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37407680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 188
(V188A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049874]
[ENSMUST00000159998]
[ENSMUST00000160390]
|
| AlphaFold |
Q8BS35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049874
AA Change: V188A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103
AA Change: V188A
| 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 benign
Transcript: ENSMUST00000159998
AA Change: V188A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103
AA Change: V188A
| 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 benign
Transcript: ENSMUST00000160390
AA Change: V188A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103
AA Change: V188A
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
G |
T |
3: 138,133,816 (GRCm39) |
V309L |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,947,059 (GRCm39) |
M1041T |
probably damaging |
Het |
| Arhgef4 |
T |
A |
1: 34,764,078 (GRCm39) |
S1111R |
possibly damaging |
Het |
| Ascc3 |
A |
C |
10: 50,592,757 (GRCm39) |
E1144D |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,228,672 (GRCm39) |
|
probably null |
Het |
| Cd209f |
T |
C |
8: 4,154,506 (GRCm39) |
T114A |
probably benign |
Het |
| Cgnl1 |
G |
A |
9: 71,539,936 (GRCm39) |
Q1103* |
probably null |
Het |
| Cop1 |
G |
A |
1: 159,152,507 (GRCm39) |
D586N |
probably damaging |
Het |
| Dcaf5 |
A |
G |
12: 80,395,120 (GRCm39) |
S350P |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,084,755 (GRCm39) |
C658R |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,969,446 (GRCm39) |
V424I |
possibly damaging |
Het |
| Gfap |
C |
T |
11: 102,787,756 (GRCm39) |
R63Q |
probably damaging |
Het |
| Gm10563 |
CTTT |
CTTTATTT |
4: 155,698,940 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
C |
A |
10: 51,502,900 (GRCm39) |
G321V |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,812,976 (GRCm39) |
C99R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,850,691 (GRCm39) |
D102G |
probably damaging |
Het |
| Mettl4 |
G |
A |
17: 95,047,937 (GRCm39) |
Q235* |
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,121,541 (GRCm39) |
T804A |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,817,937 (GRCm39) |
V266A |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,188 (GRCm39) |
D195G |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,731,465 (GRCm39) |
L206P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prkd1 |
A |
G |
12: 50,435,089 (GRCm39) |
L546P |
probably damaging |
Het |
| Rhob |
A |
T |
12: 8,549,232 (GRCm39) |
M134K |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,548,347 (GRCm39) |
S3087P |
possibly damaging |
Het |
| Sema6c |
T |
C |
3: 95,080,463 (GRCm39) |
L887P |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,492,081 (GRCm39) |
S648P |
unknown |
Het |
| Sucnr1 |
A |
G |
3: 59,994,190 (GRCm39) |
I239M |
possibly damaging |
Het |
| Tgtp2 |
T |
A |
11: 48,950,090 (GRCm39) |
M161L |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,663,137 (GRCm39) |
V1037A |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,321,841 (GRCm39) |
H285Q |
probably benign |
Het |
| Zfp971 |
T |
A |
2: 177,675,555 (GRCm39) |
C385S |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,791 (GRCm39) |
V283E |
probably benign |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02263:Agmo
|
APN |
12 |
37,407,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCAGGAAACCTATCTAGAAAGG -3'
(R):5'- GACCAACTGACTTCATTGCATC -3'
Sequencing Primer
(F):5'- TGCCAAATAGAAGACTAGTATTTGC -3'
(R):5'- ACTTCATTGCATCTTATAAACTTTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation