Incidental Mutation 'IGL01010:Plekha1'
| ID |
53651 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekha1
|
| Ensembl Gene |
ENSMUSG00000040268 |
| Gene Name |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 |
| Synonyms |
C920009D07Rik, TAPP1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL01010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
130467486-130515042 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 130503984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048180]
[ENSMUST00000075181]
[ENSMUST00000120441]
[ENSMUST00000124096]
[ENSMUST00000151119]
|
| AlphaFold |
Q8BUL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048180
|
| SMART Domains |
Protein: ENSMUSP00000035375
Gene: ENSMUSG00000040268
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V5P|A
|
1 |
75 |
2e-33 |
PDB |
|
Blast:PH
|
8 |
78 |
1e-36 |
BLAST |
|
PH
|
144 |
243 |
1.71e-21 |
SMART |
|
low complexity region
|
244 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075181
|
| SMART Domains |
Protein: ENSMUSP00000074675
Gene: ENSMUSG00000040268
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
114 |
2.16e-9 |
SMART |
|
PH
|
192 |
291 |
1.71e-21 |
SMART |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120441
|
| SMART Domains |
Protein: ENSMUSP00000112777
Gene: ENSMUSG00000040268
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
114 |
2.16e-9 |
SMART |
|
PH
|
192 |
291 |
1.71e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126355
|
| SMART Domains |
Protein: ENSMUSP00000114411
Gene: ENSMUSG00000040268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
2 |
51 |
6e-8 |
PFAM |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151119
|
| SMART Domains |
Protein: ENSMUSP00000123600
Gene: ENSMUSG00000040268
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V5P|A
|
1 |
67 |
3e-35 |
PDB |
|
Blast:PH
|
8 |
67 |
7e-38 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146111
|
| 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 pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mcie homozygous for a gene trapped allele exhibit postnatal lethality and increased body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
A |
8: 73,199,059 (GRCm39) |
S155R |
probably damaging |
Het |
| Acss3 |
G |
T |
10: 106,859,710 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
G |
A |
10: 88,796,462 (GRCm39) |
T680I |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,827,375 (GRCm39) |
|
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,134,484 (GRCm39) |
D281G |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,275,212 (GRCm39) |
L196P |
probably damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,946,914 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
A |
16: 91,439,980 (GRCm39) |
R4* |
probably null |
Het |
| Gm21738 |
T |
A |
14: 19,417,361 (GRCm38) |
T56S |
probably benign |
Het |
| Gm3573 |
T |
A |
14: 42,009,523 (GRCm39) |
I141L |
probably benign |
Het |
| Gpr6 |
A |
G |
10: 40,947,147 (GRCm39) |
M145T |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,142,427 (GRCm39) |
M91V |
probably benign |
Het |
| Mtarc2 |
T |
G |
1: 184,551,513 (GRCm39) |
I308L |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,368,925 (GRCm39) |
K529R |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,446 (GRCm39) |
V1164D |
probably damaging |
Het |
| Or2ag13 |
T |
C |
7: 106,473,460 (GRCm39) |
|
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,288 (GRCm39) |
I114N |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,212,255 (GRCm39) |
S367G |
possibly damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,393,592 (GRCm39) |
M513V |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,606 (GRCm39) |
G722D |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,827,986 (GRCm39) |
E1005G |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,959,048 (GRCm39) |
L122Q |
possibly damaging |
Het |
| Traf2 |
G |
A |
2: 25,410,450 (GRCm39) |
R400* |
probably null |
Het |
| Trim33 |
C |
T |
3: 103,254,031 (GRCm39) |
Q153* |
probably null |
Het |
| Zmynd15 |
T |
C |
11: 70,356,742 (GRCm39) |
Y551H |
probably damaging |
Het |
| Znrd2 |
A |
G |
19: 5,781,293 (GRCm39) |
S78P |
probably damaging |
Het |
|
| Other mutations in Plekha1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Plekha1
|
APN |
7 |
130,479,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00973:Plekha1
|
APN |
7 |
130,512,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01726:Plekha1
|
APN |
7 |
130,499,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Plekha1
|
UTSW |
7 |
130,499,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0681:Plekha1
|
UTSW |
7 |
130,502,353 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1304:Plekha1
|
UTSW |
7 |
130,503,949 (GRCm39) |
missense |
probably benign |
|
|
R1786:Plekha1
|
UTSW |
7 |
130,493,983 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2036:Plekha1
|
UTSW |
7 |
130,503,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2844:Plekha1
|
UTSW |
7 |
130,510,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2845:Plekha1
|
UTSW |
7 |
130,510,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2846:Plekha1
|
UTSW |
7 |
130,510,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Plekha1
|
UTSW |
7 |
130,507,094 (GRCm39) |
intron |
probably benign |
|
|
R5167:Plekha1
|
UTSW |
7 |
130,487,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5470:Plekha1
|
UTSW |
7 |
130,510,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Plekha1
|
UTSW |
7 |
130,511,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5975:Plekha1
|
UTSW |
7 |
130,493,983 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6087:Plekha1
|
UTSW |
7 |
130,502,301 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6346:Plekha1
|
UTSW |
7 |
130,479,512 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7581:Plekha1
|
UTSW |
7 |
130,512,595 (GRCm39) |
missense |
probably benign |
|
|
R8152:Plekha1
|
UTSW |
7 |
130,510,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Plekha1
|
UTSW |
7 |
130,502,241 (GRCm39) |
splice site |
probably benign |
|
|
R8998:Plekha1
|
UTSW |
7 |
130,510,199 (GRCm39) |
missense |
unknown |
|
|
R8999:Plekha1
|
UTSW |
7 |
130,510,199 (GRCm39) |
missense |
unknown |
|
|
R9299:Plekha1
|
UTSW |
7 |
130,511,348 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9337:Plekha1
|
UTSW |
7 |
130,511,348 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9613:Plekha1
|
UTSW |
7 |
130,479,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Plekha1
|
UTSW |
7 |
130,479,494 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Posted On |
2013-06-28 |
Incidental Mutation