Incidental Mutation 'IGL01373:Agps'
| ID |
84079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agps
|
| Ensembl Gene |
ENSMUSG00000042410 |
| Gene Name |
alkylglycerone phosphate synthase |
| Synonyms |
9930035G10Rik, bs2, ADAPS |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
75662521-75761694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75683128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 151
(V151A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047232]
[ENSMUST00000111952]
[ENSMUST00000175646]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047232
AA Change: V151A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041967
Gene: ENSMUSG00000042410
AA Change: V151A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
95 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_4
|
219 |
362 |
3.2e-43 |
PFAM |
|
Pfam:FAD-oxidase_C
|
397 |
670 |
4.2e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111952
AA Change: V151A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107583
Gene: ENSMUSG00000042410
AA Change: V151A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
95 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_4
|
219 |
362 |
4.7e-43 |
PFAM |
|
Pfam:FAD-oxidase_C
|
397 |
508 |
5.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175646
AA Change: V48A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135457
Gene: ENSMUSG00000042410
AA Change: V48A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_4
|
116 |
259 |
1.2e-43 |
PFAM |
|
Pfam:FAD-oxidase_C
|
294 |
567 |
2.6e-61 |
PFAM |
|
| 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 a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit male infertility, azoospermia, microphthalmia, and cataracts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
C |
T |
7: 119,310,642 (GRCm39) |
R510* |
probably null |
Het |
| Adamts12 |
A |
T |
15: 11,310,816 (GRCm39) |
E1024D |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,911,335 (GRCm39) |
D1239E |
possibly damaging |
Het |
| Cables1 |
A |
T |
18: 12,021,821 (GRCm39) |
R276S |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,207,578 (GRCm39) |
S64P |
probably damaging |
Het |
| Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
T |
C |
2: 130,236,055 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,731 (GRCm39) |
L3021P |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,354,810 (GRCm39) |
E530G |
possibly damaging |
Het |
| Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,452,701 (GRCm39) |
G98D |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,350 (GRCm39) |
I361V |
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,847,284 (GRCm39) |
H41L |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,574,229 (GRCm39) |
V143A |
probably damaging |
Het |
| Larp7-ps |
A |
G |
4: 92,079,862 (GRCm39) |
V42A |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
| Lpin3 |
G |
T |
2: 160,745,649 (GRCm39) |
D651Y |
probably damaging |
Het |
| Ms4a6b |
A |
T |
19: 11,506,871 (GRCm39) |
H220L |
possibly damaging |
Het |
| Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
| Nxnl2 |
T |
C |
13: 51,325,488 (GRCm39) |
F44L |
probably damaging |
Het |
| Or11g2 |
T |
A |
14: 50,856,069 (GRCm39) |
I130N |
probably damaging |
Het |
| Or2ag16 |
T |
C |
7: 106,351,653 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,639,621 (GRCm39) |
R716W |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
T |
C |
7: 37,921,221 (GRCm39) |
T116A |
probably benign |
Het |
| Psmb2 |
G |
T |
4: 126,580,885 (GRCm39) |
R93L |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,922,916 (GRCm39) |
L42* |
probably null |
Het |
| Ptpn22 |
A |
T |
3: 103,793,520 (GRCm39) |
D557V |
probably damaging |
Het |
| Rbbp5 |
G |
A |
1: 132,420,339 (GRCm39) |
V191I |
probably benign |
Het |
| Rgs1 |
T |
A |
1: 144,121,116 (GRCm39) |
D185V |
probably damaging |
Het |
| Selenoh |
A |
G |
2: 84,500,938 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
C |
T |
7: 49,567,481 (GRCm39) |
P312S |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,011,454 (GRCm39) |
M40K |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
| Syne2 |
T |
C |
12: 76,033,881 (GRCm39) |
I3710T |
probably damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
| Tex9 |
A |
T |
9: 72,388,036 (GRCm39) |
D134E |
possibly damaging |
Het |
| Ttc41 |
G |
T |
10: 86,611,821 (GRCm39) |
C1063F |
possibly damaging |
Het |
| Usp38 |
C |
A |
8: 81,716,647 (GRCm39) |
A496S |
possibly damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,304,568 (GRCm39) |
Y621F |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
|
| Other mutations in Agps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Agps
|
APN |
2 |
75,756,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01958:Agps
|
APN |
2 |
75,740,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02691:Agps
|
APN |
2 |
75,722,204 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0087:Agps
|
UTSW |
2 |
75,739,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Agps
|
UTSW |
2 |
75,724,505 (GRCm39) |
nonsense |
probably null |
|
|
R1116:Agps
|
UTSW |
2 |
75,692,269 (GRCm39) |
splice site |
probably benign |
|
|
R1511:Agps
|
UTSW |
2 |
75,697,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Agps
|
UTSW |
2 |
75,689,270 (GRCm39) |
missense |
probably benign |
|
|
R4770:Agps
|
UTSW |
2 |
75,722,199 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5418:Agps
|
UTSW |
2 |
75,689,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Agps
|
UTSW |
2 |
75,684,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6795:Agps
|
UTSW |
2 |
75,724,402 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7286:Agps
|
UTSW |
2 |
75,683,128 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7367:Agps
|
UTSW |
2 |
75,698,657 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7529:Agps
|
UTSW |
2 |
75,662,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7842:Agps
|
UTSW |
2 |
75,681,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Agps
|
UTSW |
2 |
75,684,547 (GRCm39) |
missense |
probably benign |
|
|
R9149:Agps
|
UTSW |
2 |
75,697,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9261:Agps
|
UTSW |
2 |
75,684,850 (GRCm39) |
intron |
probably benign |
|
|
R9371:Agps
|
UTSW |
2 |
75,742,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9393:Agps
|
UTSW |
2 |
75,735,256 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9453:Agps
|
UTSW |
2 |
75,662,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9555:Agps
|
UTSW |
2 |
75,683,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation