Incidental Mutation 'R3440:Agmo'
| ID |
267358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agmo
|
| Ensembl Gene |
ENSMUSG00000050103 |
| Gene Name |
alkylglycerol monooxygenase |
| Synonyms |
Tmem195, A530016O06Rik |
| MMRRC Submission |
040658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37291640-37632201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37293799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 74
(T74I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049874]
[ENSMUST00000159998]
[ENSMUST00000160390]
[ENSMUST00000160768]
|
| AlphaFold |
Q8BS35 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049874
AA Change: T74I
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051441
Gene: ENSMUSG00000050103
AA Change: T74I
| 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 |
possibly damaging
Transcript: ENSMUST00000159998
AA Change: T74I
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123801
Gene: ENSMUSG00000050103
AA Change: T74I
| 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 |
possibly damaging
Transcript: ENSMUST00000160390
AA Change: T74I
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125639
Gene: ENSMUSG00000050103
AA Change: T74I
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160768
AA Change: T74I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124044
Gene: ENSMUSG00000050103
AA Change: T74I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
61 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (29/30) |
| 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 |
|---|
| Abtb2 |
C |
A |
2: 103,397,577 (GRCm39) |
A169E |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,865,602 (GRCm39) |
V862A |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,096,061 (GRCm39) |
Q4614* |
probably null |
Het |
| Cavin2 |
T |
A |
1: 51,340,565 (GRCm39) |
V414E |
probably damaging |
Het |
| Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
| Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
| Dhrs3 |
T |
A |
4: 144,646,628 (GRCm39) |
M226K |
probably damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,004 (GRCm39) |
F426S |
unknown |
Het |
| Fpr1 |
C |
T |
17: 18,097,420 (GRCm39) |
D190N |
probably benign |
Het |
| Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
| Grin2c |
T |
A |
11: 115,141,469 (GRCm39) |
D883V |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| H2-Eb1 |
A |
G |
17: 34,528,655 (GRCm39) |
E62G |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
| Lef1 |
A |
G |
3: 130,978,407 (GRCm39) |
D175G |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,352,658 (GRCm39) |
|
probably null |
Het |
| Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
| Pgr |
A |
T |
9: 8,922,630 (GRCm39) |
N600I |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Selp |
T |
C |
1: 163,951,344 (GRCm39) |
F26S |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
| Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGCCTTCCCAGATATCAGAGAAC -3'
(R):5'- AACACTAGGGATATTGAGCATTCTC -3'
Sequencing Primer
(F):5'- ACTGATCAGAAAATTTAGAGGACTTG -3'
(R):5'- CTCTGCTTTACACTGGGA -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation