Incidental Mutation 'R2086:Plekha5'
| ID |
229992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha5
|
| Ensembl Gene |
ENSMUSG00000030231 |
| Gene Name |
pleckstrin homology domain containing, family A member 5 |
| Synonyms |
2810431N21Rik, PEPP2 |
| MMRRC Submission |
040091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
140369780-140542836 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 140516044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087622]
[ENSMUST00000087622]
[ENSMUST00000087622]
[ENSMUST00000087622]
[ENSMUST00000087622]
[ENSMUST00000087622]
[ENSMUST00000203012]
[ENSMUST00000203012]
[ENSMUST00000203012]
[ENSMUST00000203012]
[ENSMUST00000203012]
[ENSMUST00000203012]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000204080]
[ENSMUST00000204080]
[ENSMUST00000204080]
[ENSMUST00000204145]
[ENSMUST00000204145]
[ENSMUST00000204145]
[ENSMUST00000205026]
[ENSMUST00000205026]
[ENSMUST00000205026]
[ENSMUST00000205026]
[ENSMUST00000205026]
[ENSMUST00000205026]
[ENSMUST00000213444]
[ENSMUST00000213444]
[ENSMUST00000213444]
|
| AlphaFold |
E9Q6H8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087622
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
1.51e-3 |
SMART |
|
WW
|
58 |
90 |
2.17e-4 |
SMART |
|
PH
|
171 |
271 |
1.85e-17 |
SMART |
|
Blast:PH
|
592 |
715 |
7e-39 |
BLAST |
|
coiled coil region
|
747 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1206 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087622
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
1.51e-3 |
SMART |
|
WW
|
58 |
90 |
2.17e-4 |
SMART |
|
PH
|
171 |
271 |
1.85e-17 |
SMART |
|
Blast:PH
|
592 |
715 |
7e-39 |
BLAST |
|
coiled coil region
|
747 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1206 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087622
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
1.51e-3 |
SMART |
|
WW
|
58 |
90 |
2.17e-4 |
SMART |
|
PH
|
171 |
271 |
1.85e-17 |
SMART |
|
Blast:PH
|
592 |
715 |
7e-39 |
BLAST |
|
coiled coil region
|
747 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1206 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087622
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
1.51e-3 |
SMART |
|
WW
|
58 |
90 |
2.17e-4 |
SMART |
|
PH
|
171 |
271 |
1.85e-17 |
SMART |
|
Blast:PH
|
592 |
715 |
7e-39 |
BLAST |
|
coiled coil region
|
747 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1206 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087622
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
1.51e-3 |
SMART |
|
WW
|
58 |
90 |
2.17e-4 |
SMART |
|
PH
|
171 |
271 |
1.85e-17 |
SMART |
|
Blast:PH
|
592 |
715 |
7e-39 |
BLAST |
|
coiled coil region
|
747 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1206 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087622
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
1.51e-3 |
SMART |
|
WW
|
58 |
90 |
2.17e-4 |
SMART |
|
PH
|
171 |
271 |
1.85e-17 |
SMART |
|
Blast:PH
|
592 |
715 |
7e-39 |
BLAST |
|
coiled coil region
|
747 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1206 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203012
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
210 |
250 |
2e-8 |
BLAST |
|
coiled coil region
|
268 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203012
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
210 |
250 |
2e-8 |
BLAST |
|
coiled coil region
|
268 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203012
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
210 |
250 |
2e-8 |
BLAST |
|
coiled coil region
|
268 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203012
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
210 |
250 |
2e-8 |
BLAST |
|
coiled coil region
|
268 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203012
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
210 |
250 |
2e-8 |
BLAST |
|
coiled coil region
|
268 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203012
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
210 |
250 |
2e-8 |
BLAST |
|
coiled coil region
|
268 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203517
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
PH
|
171 |
271 |
8.6e-20 |
SMART |
|
Blast:PH
|
586 |
697 |
3e-15 |
BLAST |
|
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203517
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
PH
|
171 |
271 |
8.6e-20 |
SMART |
|
Blast:PH
|
586 |
697 |
3e-15 |
BLAST |
|
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203517
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
PH
|
171 |
271 |
8.6e-20 |
SMART |
|
Blast:PH
|
586 |
697 |
3e-15 |
BLAST |
|
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203517
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
PH
|
171 |
271 |
8.6e-20 |
SMART |
|
Blast:PH
|
586 |
697 |
3e-15 |
BLAST |
|
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203517
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
PH
|
171 |
271 |
8.6e-20 |
SMART |
|
Blast:PH
|
586 |
697 |
3e-15 |
BLAST |
|
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203517
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
PH
|
171 |
271 |
8.6e-20 |
SMART |
|
Blast:PH
|
586 |
697 |
3e-15 |
BLAST |
|
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203955
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203955
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203955
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203955
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203955
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204080
|
| SMART Domains |
Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
220 |
260 |
1e-8 |
BLAST |
|
coiled coil region
|
278 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204080
|
| SMART Domains |
Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
220 |
260 |
1e-8 |
BLAST |
|
coiled coil region
|
278 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204080
|
| SMART Domains |
Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
220 |
260 |
1e-8 |
BLAST |
|
coiled coil region
|
278 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204145
|
| SMART Domains |
Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
Blast:PH
|
114 |
151 |
6e-14 |
BLAST |
|
PDB:2DKP|A
|
163 |
196 |
1e-5 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204145
|
| SMART Domains |
Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
Blast:PH
|
114 |
151 |
6e-14 |
BLAST |
|
PDB:2DKP|A
|
163 |
196 |
1e-5 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204145
|
| SMART Domains |
Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
12 |
44 |
9e-6 |
SMART |
|
WW
|
58 |
90 |
1.3e-6 |
SMART |
|
Blast:PH
|
114 |
151 |
6e-14 |
BLAST |
|
PDB:2DKP|A
|
163 |
196 |
1e-5 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205255
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205026
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
165 |
205 |
1e-8 |
BLAST |
|
coiled coil region
|
223 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205026
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
165 |
205 |
1e-8 |
BLAST |
|
coiled coil region
|
223 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205026
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
165 |
205 |
1e-8 |
BLAST |
|
coiled coil region
|
223 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205026
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
165 |
205 |
1e-8 |
BLAST |
|
coiled coil region
|
223 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205026
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
165 |
205 |
1e-8 |
BLAST |
|
coiled coil region
|
223 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205026
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
165 |
205 |
1e-8 |
BLAST |
|
coiled coil region
|
223 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213444
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213444
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213444
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,767 (GRCm39) |
M53T |
unknown |
Het |
| Abcb11 |
T |
A |
2: 69,089,820 (GRCm39) |
|
probably benign |
Het |
| Acap2 |
C |
G |
16: 30,929,763 (GRCm39) |
A432P |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,146,249 (GRCm39) |
R302G |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,536 (GRCm39) |
E558G |
probably damaging |
Het |
| Ap2b1 |
T |
G |
11: 83,241,944 (GRCm39) |
S608A |
possibly damaging |
Het |
| Atp13a3 |
T |
A |
16: 30,171,116 (GRCm39) |
T310S |
possibly damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,734,834 (GRCm39) |
V382A |
probably benign |
Het |
| Atp6v1g1 |
T |
A |
4: 63,468,304 (GRCm39) |
F102L |
probably benign |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,810 (GRCm39) |
V37D |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,769,314 (GRCm39) |
Y1872C |
possibly damaging |
Het |
| Carf |
T |
A |
1: 60,148,570 (GRCm39) |
Y54N |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,594,349 (GRCm39) |
E256G |
probably damaging |
Het |
| Cd5 |
A |
G |
19: 10,700,620 (GRCm39) |
S295P |
probably benign |
Het |
| Cenpb |
T |
C |
2: 131,020,517 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,942,076 (GRCm39) |
M218T |
possibly damaging |
Het |
| Colec11 |
C |
T |
12: 28,644,786 (GRCm39) |
R236H |
probably damaging |
Het |
| Crem |
T |
A |
18: 3,288,098 (GRCm39) |
|
probably benign |
Het |
| Csnk2a1 |
A |
G |
2: 152,096,201 (GRCm39) |
N58S |
probably benign |
Het |
| Cyp2a4 |
T |
G |
7: 26,011,733 (GRCm39) |
M318R |
probably damaging |
Het |
| Dhrs1 |
T |
A |
14: 55,981,116 (GRCm39) |
Q98L |
probably null |
Het |
| Dnah11 |
G |
T |
12: 118,077,606 (GRCm39) |
Q1296K |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
| Eid2b |
C |
T |
7: 27,977,198 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
A |
T |
5: 76,680,693 (GRCm39) |
K28* |
probably null |
Het |
| Fam114a1 |
A |
G |
5: 65,137,402 (GRCm39) |
D115G |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,592,760 (GRCm39) |
|
probably null |
Het |
| Gc |
T |
C |
5: 89,586,201 (GRCm39) |
Y313C |
probably damaging |
Het |
| Gdpd1 |
A |
G |
11: 86,926,094 (GRCm39) |
Y284H |
probably benign |
Het |
| Gm21957 |
T |
A |
7: 124,818,878 (GRCm39) |
|
noncoding transcript |
Het |
| Golm1 |
G |
A |
13: 59,792,999 (GRCm39) |
Q169* |
probably null |
Het |
| Greb1l |
T |
C |
18: 10,523,281 (GRCm39) |
V813A |
probably damaging |
Het |
| Itih1 |
C |
T |
14: 30,659,800 (GRCm39) |
A279T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
T |
C |
17: 68,124,618 (GRCm39) |
C2893R |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,657,887 (GRCm39) |
N334K |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,472,642 (GRCm39) |
D1053G |
probably damaging |
Het |
| Map3k20 |
A |
G |
2: 72,228,729 (GRCm39) |
K316R |
probably benign |
Het |
| Mapre3 |
A |
C |
5: 31,020,546 (GRCm39) |
|
probably null |
Het |
| Mgam |
T |
A |
6: 40,737,962 (GRCm39) |
|
probably null |
Het |
| Mical2 |
A |
C |
7: 111,917,810 (GRCm39) |
H389P |
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,711,248 (GRCm39) |
D347G |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Nodal |
A |
T |
10: 61,259,077 (GRCm39) |
E171D |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,009,683 (GRCm39) |
S537P |
probably damaging |
Het |
| Obox6 |
A |
G |
7: 15,567,532 (GRCm39) |
L305S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,082 (GRCm39) |
D2715G |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or5g26 |
A |
C |
2: 85,494,090 (GRCm39) |
S229R |
probably benign |
Het |
| Pcca |
T |
C |
14: 122,923,527 (GRCm39) |
S404P |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,334,906 (GRCm39) |
S407P |
probably damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,101,619 (GRCm39) |
N72S |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
| Pygm |
G |
A |
19: 6,441,511 (GRCm39) |
|
probably null |
Het |
| Rab7 |
C |
T |
6: 87,989,300 (GRCm39) |
V57I |
probably benign |
Het |
| Rasl10a |
A |
G |
11: 5,009,431 (GRCm39) |
|
probably null |
Het |
| Rergl |
T |
C |
6: 139,471,832 (GRCm39) |
T106A |
probably benign |
Het |
| Rnf17 |
T |
G |
14: 56,720,837 (GRCm39) |
V1023G |
probably damaging |
Het |
| Rnf25 |
T |
A |
1: 74,633,126 (GRCm39) |
R409W |
probably damaging |
Het |
| Rps6ka1 |
T |
C |
4: 133,600,280 (GRCm39) |
M1V |
probably null |
Het |
| Rps6ka5 |
T |
C |
12: 100,585,874 (GRCm39) |
T140A |
possibly damaging |
Het |
| Sbno2 |
T |
A |
10: 79,893,690 (GRCm39) |
I1204F |
possibly damaging |
Het |
| Serpina16 |
A |
T |
12: 103,641,521 (GRCm39) |
I68N |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,964,628 (GRCm39) |
S202P |
probably damaging |
Het |
| Slc35g3 |
G |
C |
11: 69,651,772 (GRCm39) |
S93W |
probably damaging |
Het |
| Slc49a3 |
C |
T |
5: 108,593,487 (GRCm39) |
R117H |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
T |
C |
15: 36,227,287 (GRCm39) |
L648P |
probably damaging |
Het |
| Tagap1 |
T |
C |
17: 7,224,102 (GRCm39) |
D198G |
probably benign |
Het |
| Tedc2 |
T |
C |
17: 24,436,874 (GRCm39) |
E287G |
probably damaging |
Het |
| Tjp1 |
C |
A |
7: 64,962,669 (GRCm39) |
R1089S |
probably damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,722,928 (GRCm39) |
D125E |
probably benign |
Het |
| Uggt1 |
C |
T |
1: 36,231,495 (GRCm39) |
R490Q |
probably null |
Het |
| Uroc1 |
T |
G |
6: 90,321,096 (GRCm39) |
L224R |
probably damaging |
Het |
| Vmn1r228 |
A |
T |
17: 20,997,455 (GRCm39) |
I21N |
possibly damaging |
Het |
| Vmn2r102 |
T |
G |
17: 19,896,949 (GRCm39) |
L99V |
probably damaging |
Het |
| Vps13c |
C |
T |
9: 67,857,571 (GRCm39) |
S2601F |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,010,830 (GRCm39) |
L932P |
probably damaging |
Het |
|
| Other mutations in Plekha5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Plekha5
|
APN |
6 |
140,515,822 (GRCm39) |
splice site |
probably benign |
|
|
IGL00908:Plekha5
|
APN |
6 |
140,496,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Plekha5
|
APN |
6 |
140,480,292 (GRCm39) |
splice site |
probably benign |
|
|
IGL01380:Plekha5
|
APN |
6 |
140,516,042 (GRCm39) |
splice site |
probably benign |
|
|
IGL01406:Plekha5
|
APN |
6 |
140,518,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01408:Plekha5
|
APN |
6 |
140,516,042 (GRCm39) |
splice site |
probably benign |
|
|
IGL01688:Plekha5
|
APN |
6 |
140,515,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01719:Plekha5
|
APN |
6 |
140,515,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Plekha5
|
APN |
6 |
140,471,642 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01936:Plekha5
|
APN |
6 |
140,470,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Plekha5
|
APN |
6 |
140,529,576 (GRCm39) |
nonsense |
probably null |
|
|
IGL02544:Plekha5
|
APN |
6 |
140,535,454 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02573:Plekha5
|
APN |
6 |
140,527,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Plekha5
|
APN |
6 |
140,489,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Plekha5
|
APN |
6 |
140,489,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Doubletime
|
UTSW |
6 |
140,471,655 (GRCm39) |
nonsense |
probably null |
|
|
R0067:Plekha5
|
UTSW |
6 |
140,470,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Plekha5
|
UTSW |
6 |
140,470,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Plekha5
|
UTSW |
6 |
140,474,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Plekha5
|
UTSW |
6 |
140,474,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0107:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0359:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0360:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0362:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0363:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0364:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0365:Plekha5
|
UTSW |
6 |
140,537,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0833:Plekha5
|
UTSW |
6 |
140,535,360 (GRCm39) |
splice site |
probably benign |
|
|
R0835:Plekha5
|
UTSW |
6 |
140,514,576 (GRCm39) |
nonsense |
probably null |
|
|
R0836:Plekha5
|
UTSW |
6 |
140,535,360 (GRCm39) |
splice site |
probably benign |
|
|
R0944:Plekha5
|
UTSW |
6 |
140,515,922 (GRCm39) |
splice site |
probably benign |
|
|
R2015:Plekha5
|
UTSW |
6 |
140,480,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2043:Plekha5
|
UTSW |
6 |
140,498,530 (GRCm39) |
splice site |
probably benign |
|
|
R2102:Plekha5
|
UTSW |
6 |
140,518,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Plekha5
|
UTSW |
6 |
140,369,942 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2135:Plekha5
|
UTSW |
6 |
140,526,225 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2150:Plekha5
|
UTSW |
6 |
140,516,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Plekha5
|
UTSW |
6 |
140,471,587 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2414:Plekha5
|
UTSW |
6 |
140,496,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Plekha5
|
UTSW |
6 |
140,534,925 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3120:Plekha5
|
UTSW |
6 |
140,537,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3924:Plekha5
|
UTSW |
6 |
140,516,105 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4049:Plekha5
|
UTSW |
6 |
140,529,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4056:Plekha5
|
UTSW |
6 |
140,534,958 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4077:Plekha5
|
UTSW |
6 |
140,501,647 (GRCm39) |
splice site |
probably null |
|
|
R4320:Plekha5
|
UTSW |
6 |
140,489,543 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4343:Plekha5
|
UTSW |
6 |
140,501,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4359:Plekha5
|
UTSW |
6 |
140,537,414 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4377:Plekha5
|
UTSW |
6 |
140,525,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4480:Plekha5
|
UTSW |
6 |
140,472,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Plekha5
|
UTSW |
6 |
140,516,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Plekha5
|
UTSW |
6 |
140,496,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4672:Plekha5
|
UTSW |
6 |
140,470,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4871:Plekha5
|
UTSW |
6 |
140,471,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Plekha5
|
UTSW |
6 |
140,532,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Plekha5
|
UTSW |
6 |
140,525,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Plekha5
|
UTSW |
6 |
140,372,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5376:Plekha5
|
UTSW |
6 |
140,496,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Plekha5
|
UTSW |
6 |
140,498,459 (GRCm39) |
nonsense |
probably null |
|
|
R5753:Plekha5
|
UTSW |
6 |
140,482,730 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5836:Plekha5
|
UTSW |
6 |
140,372,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Plekha5
|
UTSW |
6 |
140,518,639 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6196:Plekha5
|
UTSW |
6 |
140,525,179 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6254:Plekha5
|
UTSW |
6 |
140,532,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6501:Plekha5
|
UTSW |
6 |
140,471,655 (GRCm39) |
nonsense |
probably null |
|
|
R6620:Plekha5
|
UTSW |
6 |
140,518,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Plekha5
|
UTSW |
6 |
140,523,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Plekha5
|
UTSW |
6 |
140,471,584 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6992:Plekha5
|
UTSW |
6 |
140,489,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Plekha5
|
UTSW |
6 |
140,489,648 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7487:Plekha5
|
UTSW |
6 |
140,516,059 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7493:Plekha5
|
UTSW |
6 |
140,526,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7557:Plekha5
|
UTSW |
6 |
140,372,271 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7743:Plekha5
|
UTSW |
6 |
140,501,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Plekha5
|
UTSW |
6 |
140,534,950 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7808:Plekha5
|
UTSW |
6 |
140,529,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Plekha5
|
UTSW |
6 |
140,472,184 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7944:Plekha5
|
UTSW |
6 |
140,526,201 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7945:Plekha5
|
UTSW |
6 |
140,526,201 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7992:Plekha5
|
UTSW |
6 |
140,472,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Plekha5
|
UTSW |
6 |
140,496,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9024:Plekha5
|
UTSW |
6 |
140,370,176 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9135:Plekha5
|
UTSW |
6 |
140,480,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Plekha5
|
UTSW |
6 |
140,501,733 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9241:Plekha5
|
UTSW |
6 |
140,525,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9447:Plekha5
|
UTSW |
6 |
140,525,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Plekha5
|
UTSW |
6 |
140,372,253 (GRCm39) |
missense |
probably benign |
0.24 |
|
X0027:Plekha5
|
UTSW |
6 |
140,370,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCTTCTAGGCCAAATTAAGCAG -3'
(R):5'- CCTCTAGGGAACTCAGTGTACTC -3'
Sequencing Primer
(F):5'- CTAGGCCAAATTAAGCAGATTGTGTG -3'
(R):5'- TCAGTGTACTCACAGCAGTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation