Incidental Mutation 'R0681:Plekha1'
| ID |
60967 |
| 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 |
038866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0681 (G1)
|
| Quality Score |
133 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
130467486-130515042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130502353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 30
(V30A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048180]
[ENSMUST00000075181]
[ENSMUST00000120441]
[ENSMUST00000124096]
[ENSMUST00000151119]
|
| AlphaFold |
Q8BUL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048180
AA Change: V144A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000035375
Gene: ENSMUSG00000040268
AA Change: V144A
| 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
AA Change: V192A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000074675
Gene: ENSMUSG00000040268
AA Change: V192A
| 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
AA Change: V192A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112777
Gene: ENSMUSG00000040268
AA Change: V192A
| 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 |
possibly damaging
Transcript: ENSMUST00000136963
AA Change: V30A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151119
AA Change: V192A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000123600
Gene: ENSMUSG00000040268
AA Change: V192A
| 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: ENSMUST00000146111
|
| Meta Mutation Damage Score |
0.1406 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,249 (GRCm39) |
S66T |
probably damaging |
Het |
| Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
| Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
| Grb14 |
G |
T |
2: 64,747,631 (GRCm39) |
A10E |
probably damaging |
Het |
| Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
| Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
| Naprt |
G |
A |
15: 75,765,481 (GRCm39) |
P120S |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,250,907 (GRCm39) |
E62G |
probably null |
Het |
| Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
| Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
| Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
| Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
| Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
| Rab26 |
A |
G |
17: 24,746,940 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
| Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
| Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
| Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
| Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
| Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
| Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,787 (GRCm39) |
I532M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGTTGAGATTAAGTGTCACAGGCT -3'
(R):5'- TGATAATCATGGGGCAAACCCTCTACA -3'
Sequencing Primer
(F):5'- CACAGGCTTACATTTTTTCTGAGG -3'
(R):5'- GGCAAACCCTCTACACCCTTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation