Incidental Mutation 'R6938:Acp6'
| ID |
540370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp6
|
| Ensembl Gene |
ENSMUSG00000028093 |
| Gene Name |
acid phosphatase 6, lysophosphatidic |
| Synonyms |
5730559A09Rik, ACPL1, mPACPL1 |
| MMRRC Submission |
045052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
97066070-97083892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97082949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 320
(M320T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090759]
|
| AlphaFold |
Q8BP40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090759
AA Change: M320T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000088263
Gene: ENSMUSG00000028093
AA Change: M320T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
42 |
228 |
4.6e-20 |
PFAM |
|
Pfam:His_Phos_2
|
245 |
371 |
8e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,351 (GRCm39) |
|
probably null |
Het |
| Adam22 |
A |
T |
5: 8,196,499 (GRCm39) |
Y259N |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,096,628 (GRCm39) |
A2501D |
possibly damaging |
Het |
| Angpt2 |
G |
T |
8: 18,748,105 (GRCm39) |
S385* |
probably null |
Het |
| Asxl2 |
G |
C |
12: 3,526,149 (GRCm39) |
R255T |
probably damaging |
Het |
| Btg3 |
T |
C |
16: 78,157,216 (GRCm39) |
I244V |
probably benign |
Het |
| Casr |
T |
C |
16: 36,316,283 (GRCm39) |
T596A |
probably damaging |
Het |
| Ccl1 |
A |
T |
11: 82,067,684 (GRCm39) |
V82D |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,948,333 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,873,379 (GRCm39) |
D1243G |
probably benign |
Het |
| Dnaaf9 |
A |
C |
2: 130,617,673 (GRCm39) |
H297Q |
probably benign |
Het |
| Drc3 |
A |
T |
11: 60,284,949 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,282,943 (GRCm39) |
D109G |
probably damaging |
Het |
| Gstz1 |
A |
G |
12: 87,193,943 (GRCm39) |
|
probably null |
Het |
| Kctd10 |
C |
A |
5: 114,508,191 (GRCm39) |
E106* |
probably null |
Het |
| Kctd20 |
G |
A |
17: 29,180,555 (GRCm39) |
G110S |
probably benign |
Het |
| Klk1b26 |
A |
T |
7: 43,665,718 (GRCm39) |
T177S |
probably benign |
Het |
| Kyat3 |
T |
A |
3: 142,431,183 (GRCm39) |
V118E |
probably damaging |
Het |
| Maml3 |
T |
C |
3: 52,011,159 (GRCm39) |
K136E |
probably damaging |
Het |
| Mex3d |
T |
C |
10: 80,218,074 (GRCm39) |
N381S |
possibly damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,120,671 (GRCm39) |
T514S |
probably benign |
Het |
| Nlrp1b |
G |
A |
11: 71,109,042 (GRCm39) |
A153V |
probably damaging |
Het |
| Or13e8 |
C |
T |
4: 43,696,286 (GRCm39) |
V296M |
probably damaging |
Het |
| Pcolce |
T |
C |
5: 137,603,878 (GRCm39) |
T365A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,593,985 (GRCm39) |
I377V |
probably benign |
Het |
| Plk2 |
T |
A |
13: 110,533,214 (GRCm39) |
Y192* |
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,706 (GRCm39) |
V2820D |
probably damaging |
Het |
| Secisbp2l |
G |
T |
2: 125,592,272 (GRCm39) |
P650T |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,080,064 (GRCm39) |
L69P |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,103,616 (GRCm39) |
C57R |
probably damaging |
Het |
| Tbl3 |
A |
T |
17: 24,924,187 (GRCm39) |
V190D |
possibly damaging |
Het |
| Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
| Tmem231 |
T |
C |
8: 112,660,144 (GRCm39) |
S53G |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,753 (GRCm39) |
V797D |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,803,886 (GRCm39) |
D1665E |
probably damaging |
Het |
| Txk |
C |
A |
5: 72,856,492 (GRCm39) |
R433L |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,992 (GRCm39) |
S182P |
possibly damaging |
Het |
| Vps13b |
T |
G |
15: 35,423,344 (GRCm39) |
I221M |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,903,464 (GRCm39) |
N1082D |
probably benign |
Het |
|
| Other mutations in Acp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Acp6
|
APN |
3 |
97,083,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01610:Acp6
|
APN |
3 |
97,083,036 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01655:Acp6
|
APN |
3 |
97,073,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01788:Acp6
|
APN |
3 |
97,073,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Acp6
|
APN |
3 |
97,081,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02978:Acp6
|
APN |
3 |
97,073,875 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03180:Acp6
|
APN |
3 |
97,082,951 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0144:Acp6
|
UTSW |
3 |
97,073,145 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Acp6
|
UTSW |
3 |
97,075,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1458:Acp6
|
UTSW |
3 |
97,081,104 (GRCm39) |
splice site |
probably benign |
|
|
R1889:Acp6
|
UTSW |
3 |
97,073,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1990:Acp6
|
UTSW |
3 |
97,083,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Acp6
|
UTSW |
3 |
97,075,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3786:Acp6
|
UTSW |
3 |
97,066,605 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3933:Acp6
|
UTSW |
3 |
97,073,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4271:Acp6
|
UTSW |
3 |
97,073,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4604:Acp6
|
UTSW |
3 |
97,083,075 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4864:Acp6
|
UTSW |
3 |
97,066,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4935:Acp6
|
UTSW |
3 |
97,079,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5076:Acp6
|
UTSW |
3 |
97,075,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5255:Acp6
|
UTSW |
3 |
97,075,312 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5896:Acp6
|
UTSW |
3 |
97,075,810 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5959:Acp6
|
UTSW |
3 |
97,073,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Acp6
|
UTSW |
3 |
97,082,997 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7593:Acp6
|
UTSW |
3 |
97,073,266 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8485:Acp6
|
UTSW |
3 |
97,066,302 (GRCm39) |
start gained |
probably benign |
|
|
R8796:Acp6
|
UTSW |
3 |
97,066,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8971:Acp6
|
UTSW |
3 |
97,078,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Acp6
|
UTSW |
3 |
97,073,273 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGTTCACCATCTGCTC -3'
(R):5'- CAGAACTCTATTGGGCTTGAGAAG -3'
Sequencing Primer
(F):5'- TCCAGAGGAGTTTTAAACCAGCTCAG -3'
(R):5'- CTCTATTGGGCTTGAGAAGAGACATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation