Incidental Mutation 'R2845:Plekha1'
ID |
251519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha1
|
Ensembl Gene |
ENSMUSG00000040268 |
Gene Name |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 |
Synonyms |
C920009D07Rik, TAPP1 |
MMRRC Submission |
040438-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R2845 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
130467486-130515042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 130510095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Cysteine
at position 280
(W280C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048180]
[ENSMUST00000075181]
[ENSMUST00000120441]
[ENSMUST00000124096]
[ENSMUST00000151119]
|
AlphaFold |
Q8BUL6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048180
AA Change: W232C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035375 Gene: ENSMUSG00000040268 AA Change: W232C
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 damaging
Transcript: ENSMUST00000075181
AA Change: W280C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074675 Gene: ENSMUSG00000040268 AA Change: W280C
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 damaging
Transcript: ENSMUST00000120441
AA Change: W280C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112777 Gene: ENSMUSG00000040268 AA Change: W280C
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 |
unknown
Transcript: ENSMUST00000126355
AA Change: W41C
|
SMART Domains |
Protein: ENSMUSP00000114411 Gene: ENSMUSG00000040268 AA Change: W41C
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: ENSMUST00000146111
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151119
AA Change: W280C
|
SMART Domains |
Protein: ENSMUSP00000123600 Gene: ENSMUSG00000040268 AA Change: W280C
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: ENSMUST00000149029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198082
|
Meta Mutation Damage Score |
0.9372 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
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 |
IGL01010:Plekha1
|
APN |
7 |
130,503,984 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGACAGCTGGACCAATGAC -3'
(R):5'- GAAGCTCTCAGTTAGGGTGC -3'
Sequencing Primer
(F):5'- TTTAATCTCAGCACTCAGGAGGCAG -3'
(R):5'- GCAAGTCCAATTGGTATGAAAGTC -3'
|
Posted On |
2014-12-04 |