Incidental Mutation 'R5536:Plekha1'
| ID |
434825 |
| 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 |
043094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R5536 (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 130511331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 305
(R305I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074675
(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 damaging
Transcript: ENSMUST00000075181
AA Change: R305I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074675
Gene: ENSMUSG00000040268
AA Change: R305I
| 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 |
possibly damaging
Transcript: ENSMUST00000120441
AA Change: R305I
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112777
Gene: ENSMUSG00000040268
AA Change: R305I
| 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: R66I
|
| SMART Domains |
Protein: ENSMUSP00000114411
Gene: ENSMUSG00000040268
AA Change: R66I
| 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 |
noncoding transcript
Transcript: ENSMUST00000149029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198082
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,772,149 (GRCm39) |
G446V |
possibly damaging |
Het |
| Aadac |
T |
G |
3: 59,946,984 (GRCm39) |
N227K |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,780,133 (GRCm39) |
G74R |
probably benign |
Het |
| Adrm1 |
A |
G |
2: 179,813,981 (GRCm39) |
|
probably benign |
Het |
| Appl1 |
G |
C |
14: 26,645,737 (GRCm39) |
S691* |
probably null |
Het |
| Atp2a2 |
T |
C |
5: 122,595,245 (GRCm39) |
D1035G |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,504,169 (GRCm39) |
I599T |
probably benign |
Het |
| Col23a1 |
C |
A |
11: 51,458,776 (GRCm39) |
D304E |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,338,674 (GRCm39) |
R478G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,464,412 (GRCm39) |
N3660D |
probably benign |
Het |
| Drosha |
T |
A |
15: 12,929,797 (GRCm39) |
Y1331N |
possibly damaging |
Het |
| E2f6 |
T |
G |
12: 16,874,685 (GRCm39) |
S256A |
probably benign |
Het |
| Evc |
A |
G |
5: 37,483,927 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
| Galnt2 |
T |
C |
8: 125,050,412 (GRCm39) |
C91R |
probably damaging |
Het |
| Gm3095 |
G |
T |
14: 15,170,371 (GRCm39) |
M73I |
probably benign |
Het |
| Gpr179 |
T |
A |
11: 97,234,641 (GRCm39) |
Q480L |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,226,359 (GRCm39) |
I186F |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,631,042 (GRCm39) |
I919F |
probably benign |
Het |
| Kdm3a |
A |
C |
6: 71,588,920 (GRCm39) |
V363G |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,831,142 (GRCm39) |
R1839H |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,707,389 (GRCm39) |
D208G |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,663,956 (GRCm39) |
D411G |
possibly damaging |
Het |
| Marco |
T |
C |
1: 120,432,464 (GRCm39) |
S8G |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,128,940 (GRCm39) |
F171S |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,175,183 (GRCm39) |
S198T |
probably damaging |
Het |
| Nol10 |
C |
A |
12: 17,466,138 (GRCm39) |
S511* |
probably null |
Het |
| Nup153 |
T |
C |
13: 46,836,485 (GRCm39) |
T1375A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,998,697 (GRCm39) |
S1367P |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,183 (GRCm39) |
V253A |
probably benign |
Het |
| Pcdha7 |
G |
A |
18: 37,108,303 (GRCm39) |
V443M |
probably damaging |
Het |
| Psmb2 |
T |
A |
4: 126,578,002 (GRCm39) |
I60N |
probably damaging |
Het |
| Rad17 |
C |
A |
13: 100,767,612 (GRCm39) |
G330C |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,200,446 (GRCm39) |
S80P |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,228,128 (GRCm39) |
|
probably null |
Het |
| Taf8 |
C |
A |
17: 47,805,407 (GRCm39) |
R164L |
possibly damaging |
Het |
| Tmem87a |
C |
A |
2: 120,227,911 (GRCm39) |
D79Y |
probably damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,170,291 (GRCm39) |
R574W |
probably benign |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,037,733 (GRCm39) |
T738A |
probably benign |
Het |
| Vmn2r54 |
A |
C |
7: 12,366,343 (GRCm39) |
V197G |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,714,642 (GRCm39) |
P1049Q |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,149,488 (GRCm39) |
S640R |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,157,713 (GRCm39) |
C470* |
probably null |
Het |
| Zkscan8 |
T |
C |
13: 21,710,838 (GRCm39) |
I91V |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,508 (GRCm39) |
V30A |
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 |
|
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 |
|
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 |
|
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'- GGTAACTGCCTGCATTTTATTTGAC -3'
(R):5'- TGATGACAACTGCAAAAGGC -3'
Sequencing Primer
(F):5'- ACAGTCAAGTATGAGATTCTCTGC -3'
(R):5'- AAGGCAGTCCGGTTAACTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation