Incidental Mutation 'IGL01788:Acp6'
| ID |
155126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acp6
|
| Ensembl Gene |
ENSMUSG00000028093 |
| Gene Name |
acid phosphatase 6, lysophosphatidic |
| Synonyms |
5730559A09Rik, ACPL1, mPACPL1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
IGL01788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
97066070-97083892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97073198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 80
(T80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090759]
|
| AlphaFold |
Q8BP40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090759
AA Change: T80A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088263
Gene: ENSMUSG00000028093
AA Change: T80A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149900
|
| 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 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 |
|---|
| 9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
| Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
| Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
| Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
| Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
| Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
| Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
| Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
| Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
| Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
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 |
|
|
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 |
|
R6938:Acp6
|
UTSW |
3 |
97,082,949 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation