Incidental Mutation 'R4935:Acp6'
ID |
380285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acp6
|
Ensembl Gene |
ENSMUSG00000028093 |
Gene Name |
acid phosphatase 6, lysophosphatidic |
Synonyms |
5730559A09Rik, ACPL1, mPACPL1 |
MMRRC Submission |
042535-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R4935 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
97066070-97083892 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 97079060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090759]
[ENSMUST00000090759]
[ENSMUST00000090759]
|
AlphaFold |
Q8BP40 |
Predicted Effect |
probably null
Transcript: ENSMUST00000090759
|
SMART Domains |
Protein: ENSMUSP00000088263 Gene: ENSMUSG00000028093
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 |
probably null
Transcript: ENSMUST00000090759
|
SMART Domains |
Protein: ENSMUSP00000088263 Gene: ENSMUSG00000028093
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 |
probably null
Transcript: ENSMUST00000090759
|
SMART Domains |
Protein: ENSMUSP00000088263 Gene: ENSMUSG00000028093
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: ENSMUST00000139898
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143234
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146143
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198329
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 86.9%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730071L15Rik |
A |
G |
11: 6,150,442 (GRCm39) |
*138W |
probably null |
Het |
Abcb1a |
T |
A |
5: 8,787,773 (GRCm39) |
|
probably null |
Het |
Adcyap1 |
A |
T |
17: 93,511,541 (GRCm39) |
I172L |
probably benign |
Het |
Adgrf1 |
A |
C |
17: 43,606,130 (GRCm39) |
I85L |
probably benign |
Het |
Afdn |
A |
T |
17: 14,111,228 (GRCm39) |
T1604S |
probably benign |
Het |
Angpt2 |
T |
C |
8: 18,742,131 (GRCm39) |
Y475C |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,749,713 (GRCm39) |
S439P |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,812,033 (GRCm39) |
N366K |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,626,922 (GRCm39) |
S87P |
probably benign |
Het |
Ano7 |
T |
A |
1: 93,323,036 (GRCm39) |
S459T |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,656,369 (GRCm39) |
V1460M |
probably benign |
Het |
Atg16l1 |
A |
C |
1: 87,694,764 (GRCm39) |
N147T |
possibly damaging |
Het |
Atp10a |
T |
C |
7: 58,463,512 (GRCm39) |
V1015A |
probably damaging |
Het |
Atxn7 |
T |
A |
14: 14,100,401 (GRCm38) |
S696T |
probably benign |
Het |
Babam1 |
C |
T |
8: 71,852,446 (GRCm39) |
T184I |
probably benign |
Het |
Blk |
A |
G |
14: 63,618,711 (GRCm39) |
S175P |
possibly damaging |
Het |
Col5a1 |
T |
A |
2: 27,914,754 (GRCm39) |
F123L |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,024,480 (GRCm39) |
Y496C |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,615,700 (GRCm39) |
Y1676* |
probably null |
Het |
Fdxacb1 |
T |
A |
9: 50,683,243 (GRCm39) |
M402K |
probably benign |
Het |
Frmd5 |
A |
G |
2: 121,393,405 (GRCm39) |
V141A |
possibly damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,504 (GRCm39) |
R685* |
probably null |
Het |
Grik2 |
A |
G |
10: 49,116,826 (GRCm39) |
L645P |
probably damaging |
Het |
H2aj |
T |
A |
6: 136,785,681 (GRCm39) |
V115E |
possibly damaging |
Het |
Hrh3 |
T |
C |
2: 179,743,061 (GRCm39) |
Y189C |
probably damaging |
Het |
Kcnc2 |
A |
G |
10: 112,108,133 (GRCm39) |
T175A |
probably benign |
Het |
Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
Kif24 |
T |
C |
4: 41,394,939 (GRCm39) |
R645G |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,899,438 (GRCm39) |
I380V |
possibly damaging |
Het |
Lamb2 |
A |
G |
9: 108,364,700 (GRCm39) |
I1151M |
possibly damaging |
Het |
Leo1 |
A |
G |
9: 75,353,159 (GRCm39) |
D234G |
probably benign |
Het |
Lrp1b |
T |
G |
2: 41,388,405 (GRCm39) |
N407H |
probably benign |
Het |
Matn2 |
T |
C |
15: 34,428,831 (GRCm39) |
S732P |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,523,431 (GRCm39) |
F114I |
possibly damaging |
Het |
Or1l8 |
T |
C |
2: 36,817,713 (GRCm39) |
N138D |
probably benign |
Het |
Or4f17-ps1 |
G |
A |
2: 111,357,793 (GRCm39) |
V45I |
probably damaging |
Het |
Or5b123 |
T |
C |
19: 13,597,066 (GRCm39) |
I180T |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,676,980 (GRCm39) |
V179A |
probably benign |
Het |
Plaur |
A |
T |
7: 24,166,141 (GRCm39) |
S71C |
possibly damaging |
Het |
Plbd2 |
T |
C |
5: 120,624,786 (GRCm39) |
N461D |
possibly damaging |
Het |
Plcb2 |
T |
A |
2: 118,549,396 (GRCm39) |
Y322F |
probably damaging |
Het |
Prkab2 |
T |
C |
3: 97,569,671 (GRCm39) |
V79A |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,197,568 (GRCm39) |
C774S |
probably damaging |
Het |
Ring1 |
A |
C |
17: 34,242,016 (GRCm39) |
L131R |
probably benign |
Het |
Rxfp2 |
G |
A |
5: 149,975,097 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
A |
T |
3: 94,845,269 (GRCm39) |
I122F |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,217,468 (GRCm39) |
H394R |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,864,758 (GRCm39) |
V266I |
probably damaging |
Het |
Slc2a10 |
A |
G |
2: 165,359,578 (GRCm39) |
T481A |
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
Tapbp |
A |
G |
17: 34,144,596 (GRCm39) |
M231V |
probably benign |
Het |
Tbxas1 |
A |
T |
6: 38,999,981 (GRCm39) |
N256I |
probably benign |
Het |
Uimc1 |
A |
G |
13: 55,240,998 (GRCm39) |
I30T |
probably damaging |
Het |
Usp48 |
C |
A |
4: 137,377,669 (GRCm39) |
N231K |
probably benign |
Het |
Zfhx3 |
T |
G |
8: 109,674,482 (GRCm39) |
V1844G |
possibly damaging |
Het |
Znrf3 |
A |
T |
11: 5,233,422 (GRCm39) |
C212S |
probably 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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCGCCCCTATGGTTTAATAG -3'
(R):5'- TGACACTCTGGACTCTGTGTAAC -3'
Sequencing Primer
(F):5'- TAGAAGCTAATTGGCGCCCTTAG -3'
(R):5'- GGACAGAGATACAGGTTCCTACC -3'
|
Posted On |
2016-04-15 |