Incidental Mutation 'R5167:Plekha1'
| ID |
397351 |
| 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 |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
130467486-130515042 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 130487179 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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000148513
|
| Predicted Effect |
probably null
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: ENSMUST00000154282
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
| Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
| Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
| Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly 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 |
|
|
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'- ACAGTTGGGACCCAGATTCTATATC -3'
(R):5'- TAAGCCACGGGTTTATGTCTTG -3'
Sequencing Primer
(F):5'- GGACCCAGATTCTATATCTAATTTGC -3'
(R):5'- CAACTTAGAGGAGGTCAGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation