Incidental Mutation 'R5357:Plekha4'
| ID |
434544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha4
|
| Ensembl Gene |
ENSMUSG00000040428 |
| Gene Name |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 |
| Synonyms |
2410005C22Rik, PEPP1 |
| MMRRC Submission |
042936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5357 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45175754-45203653 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45184195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 61
(V61F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051810]
[ENSMUST00000209517]
[ENSMUST00000210480]
[ENSMUST00000211155]
[ENSMUST00000211797]
[ENSMUST00000211227]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051810
AA Change: V132F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: V132F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
334 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120516
AA Change: V132F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114138
Gene: ENSMUSG00000040428
AA Change: V132F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
328 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120985
AA Change: V132F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112856
Gene: ENSMUSG00000040428
AA Change: V132F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
334 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121932
AA Change: V132F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113802
Gene: ENSMUSG00000040428
AA Change: V132F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
334 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149052
AA Change: V61F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123030
Gene: ENSMUSG00000040428
AA Change: V61F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
49 |
84 |
4e-13 |
BLAST |
|
PDB:1UPR|A
|
49 |
89 |
2e-16 |
PDB |
|
SCOP:d1btn__
|
54 |
80 |
1e-4 |
SMART |
|
low complexity region
|
91 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
263 |
N/A |
INTRINSIC |
|
coiled coil region
|
305 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209517
AA Change: V132F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210480
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211155
AA Change: V132F
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211797
AA Change: V61F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211227
AA Change: V132F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,463 (GRCm39) |
V206A |
possibly damaging |
Het |
| 5730522E02Rik |
A |
T |
11: 25,598,148 (GRCm39) |
C102* |
probably null |
Het |
| Brsk2 |
C |
A |
7: 141,538,248 (GRCm39) |
D131E |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,452 (GRCm39) |
F112L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,811,384 (GRCm39) |
C282* |
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Dyrk1b |
T |
C |
7: 27,884,743 (GRCm39) |
V326A |
possibly damaging |
Het |
| Eloa |
T |
C |
4: 135,736,559 (GRCm39) |
D563G |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,253,623 (GRCm39) |
K489R |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,337,497 (GRCm39) |
E326G |
probably damaging |
Het |
| Gm1758 |
G |
A |
16: 14,320,218 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
T |
6: 27,762,418 (GRCm39) |
L269Q |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,863,990 (GRCm39) |
I284T |
possibly damaging |
Het |
| Hyal6 |
T |
A |
6: 24,734,517 (GRCm39) |
M150K |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,113 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,820 (GRCm39) |
K450R |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,978,950 (GRCm39) |
E2G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map2k7 |
A |
T |
8: 4,294,461 (GRCm39) |
H253L |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,559,780 (GRCm39) |
T248A |
possibly damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,732 (GRCm39) |
C33S |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,491,463 (GRCm39) |
M1K |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,263,831 (GRCm39) |
S302P |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,415,384 (GRCm39) |
Y66H |
probably benign |
Het |
| Pgm3 |
G |
A |
9: 86,438,310 (GRCm39) |
R451* |
probably null |
Het |
| Phf10 |
A |
T |
17: 15,174,275 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
G |
17: 24,784,764 (GRCm39) |
V402G |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,740,708 (GRCm39) |
|
probably null |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,167,700 (GRCm39) |
H444R |
probably benign |
Het |
| Tcn2 |
T |
G |
11: 3,876,017 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tnks2 |
G |
A |
19: 36,826,690 (GRCm39) |
|
silent |
Het |
| Trh |
T |
A |
6: 92,219,815 (GRCm39) |
D167V |
probably benign |
Het |
| Tshz1 |
C |
T |
18: 84,033,205 (GRCm39) |
G401D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,798,138 (GRCm39) |
Q453L |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,083 (GRCm39) |
K805* |
probably null |
Het |
| Wnt16 |
T |
G |
6: 22,291,231 (GRCm39) |
|
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,550,780 (GRCm39) |
V665E |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,520,328 (GRCm39) |
M63K |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,734,159 (GRCm39) |
Q584* |
probably null |
Het |
|
| Other mutations in Plekha4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Plekha4
|
APN |
7 |
45,187,659 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01716:Plekha4
|
APN |
7 |
45,183,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02072:Plekha4
|
APN |
7 |
45,187,722 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02815:Plekha4
|
APN |
7 |
45,187,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Plekha4
|
APN |
7 |
45,181,787 (GRCm39) |
nonsense |
probably null |
|
|
PIT4494001:Plekha4
|
UTSW |
7 |
45,197,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Plekha4
|
UTSW |
7 |
45,193,373 (GRCm39) |
nonsense |
probably null |
|
|
R0239:Plekha4
|
UTSW |
7 |
45,181,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Plekha4
|
UTSW |
7 |
45,181,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Plekha4
|
UTSW |
7 |
45,199,400 (GRCm39) |
splice site |
probably benign |
|
|
R1955:Plekha4
|
UTSW |
7 |
45,203,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2049:Plekha4
|
UTSW |
7 |
45,203,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2187:Plekha4
|
UTSW |
7 |
45,198,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2888:Plekha4
|
UTSW |
7 |
45,187,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Plekha4
|
UTSW |
7 |
45,203,082 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5604:Plekha4
|
UTSW |
7 |
45,198,580 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5611:Plekha4
|
UTSW |
7 |
45,203,065 (GRCm39) |
missense |
probably benign |
|
|
R6255:Plekha4
|
UTSW |
7 |
45,203,226 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6341:Plekha4
|
UTSW |
7 |
45,190,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Plekha4
|
UTSW |
7 |
45,180,000 (GRCm39) |
start codon destroyed |
probably null |
0.87 |
|
R6720:Plekha4
|
UTSW |
7 |
45,190,310 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6776:Plekha4
|
UTSW |
7 |
45,184,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Plekha4
|
UTSW |
7 |
45,198,695 (GRCm39) |
missense |
probably benign |
|
|
R9095:Plekha4
|
UTSW |
7 |
45,190,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCGATTCACCTTCACAGTGAG -3'
(R):5'- AGATCAGTCGGGAGTCTTGG -3'
Sequencing Primer
(F):5'- CAGTGAGTCTGTTTGTGGATGCTAG -3'
(R):5'- AGAGAACCCCTTTTTGCTATTGGAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation