Incidental Mutation 'R2888:Plekha4'
| ID |
259995 |
| 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 |
040476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R2888 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45175754-45203653 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45187668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 176
(R176C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051810]
[ENSMUST00000209517]
[ENSMUST00000211155]
[ENSMUST00000211797]
[ENSMUST00000211227]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051810
AA Change: R247C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: R247C
| 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: ENSMUST00000120516
AA Change: R247C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114138
Gene: ENSMUSG00000040428
AA Change: R247C
| 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: R247C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112856
Gene: ENSMUSG00000040428
AA Change: R247C
| 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: R247C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113802
Gene: ENSMUSG00000040428
AA Change: R247C
| 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: R176C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123030
Gene: ENSMUSG00000040428
AA Change: R176C
| 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: R247C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211155
AA Change: R247C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211797
AA Change: R176C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211227
AA Change: R247C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211794
|
| Meta Mutation Damage Score |
0.1274 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,425,470 (GRCm39) |
S288P |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,846,553 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,865,600 (GRCm39) |
D100G |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,258,968 (GRCm39) |
I1226F |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,376,224 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Extl2 |
T |
C |
3: 115,820,906 (GRCm39) |
F251S |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,072,791 (GRCm39) |
G2380S |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,763,764 (GRCm39) |
K762E |
probably benign |
Het |
| Krtap4-9 |
C |
A |
11: 99,676,245 (GRCm39) |
C55* |
probably null |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Llcfc1 |
A |
T |
6: 41,661,537 (GRCm39) |
K29M |
probably damaging |
Het |
| Malrd1 |
A |
T |
2: 16,079,568 (GRCm39) |
I1762F |
unknown |
Het |
| Muc5b |
G |
A |
7: 141,415,291 (GRCm39) |
V2746M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,802 (GRCm39) |
D1173E |
probably benign |
Het |
| Myo5b |
G |
C |
18: 74,895,689 (GRCm39) |
E1782Q |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,471,988 (GRCm39) |
F106S |
possibly damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,940 (GRCm39) |
D483G |
probably damaging |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,897,251 (GRCm39) |
S103C |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Pramel23 |
G |
T |
4: 143,423,460 (GRCm39) |
T443K |
probably benign |
Het |
| Prol1 |
C |
A |
5: 88,476,168 (GRCm39) |
A186E |
unknown |
Het |
| Rbm39 |
C |
T |
2: 156,009,503 (GRCm39) |
R123H |
probably benign |
Het |
| Rtn4 |
T |
C |
11: 29,643,687 (GRCm39) |
S167P |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Smoc2 |
T |
C |
17: 14,617,887 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
A |
G |
19: 4,798,664 (GRCm39) |
T1998A |
possibly damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,242,577 (GRCm39) |
E173D |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,850,969 (GRCm39) |
|
probably null |
Het |
| Umps |
A |
T |
16: 33,784,240 (GRCm39) |
V71E |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
| Zfp511 |
A |
C |
7: 139,619,295 (GRCm39) |
D204A |
probably benign |
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 |
|
R5086:Plekha4
|
UTSW |
7 |
45,203,082 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5357:Plekha4
|
UTSW |
7 |
45,184,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGATGCATATATTCCCAAAGGG -3'
(R):5'- GTGGGAAATGTAGTCTGCTCC -3'
Sequencing Primer
(F):5'- GGAACACACCCACTCTGCCTAG -3'
(R):5'- AAATGTAGTCTGCTCCTTTCGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation