Incidental Mutation 'R7743:Plekha5'
| ID |
596650 |
| 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 |
045799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
140369780-140542836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140501712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 633
(R633S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087622]
[ENSMUST00000203012]
[ENSMUST00000203517]
[ENSMUST00000203774]
[ENSMUST00000204080]
[ENSMUST00000204145]
[ENSMUST00000204876]
[ENSMUST00000205026]
|
| AlphaFold |
E9Q6H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087622
AA Change: R633S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: R633S
| 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 benign
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 |
possibly damaging
Transcript: ENSMUST00000203517
AA Change: R627S
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: R627S
| 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 benign
Transcript: ENSMUST00000203774
|
| SMART Domains |
Protein: ENSMUSP00000144832
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
62 |
162 |
8.6e-20 |
SMART |
|
Blast:PH
|
477 |
511 |
4e-8 |
BLAST |
|
low complexity region
|
512 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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: 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: ENSMUST00000204876
|
| SMART Domains |
Protein: ENSMUSP00000145336
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
62 |
162 |
8.6e-20 |
SMART |
|
Blast:PH
|
483 |
517 |
3e-8 |
BLAST |
|
low complexity region
|
518 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (77/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,516 (GRCm39) |
E1235G |
probably damaging |
Het |
| Abtb3 |
A |
T |
10: 85,460,813 (GRCm39) |
I569F |
possibly damaging |
Het |
| Adam6a |
A |
G |
12: 113,508,152 (GRCm39) |
D175G |
probably benign |
Het |
| Adgrf4 |
A |
T |
17: 42,983,453 (GRCm39) |
C76* |
probably null |
Het |
| Agbl3 |
C |
T |
6: 34,823,765 (GRCm39) |
T815I |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,748,383 (GRCm39) |
V488A |
not run |
Het |
| Akip1 |
T |
A |
7: 109,311,035 (GRCm39) |
S192T |
probably benign |
Het |
| Apc2 |
G |
A |
10: 80,140,749 (GRCm39) |
M201I |
probably damaging |
Het |
| Arel1 |
G |
T |
12: 84,987,043 (GRCm39) |
N124K |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,453,457 (GRCm39) |
H845L |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,634 (GRCm39) |
Y586H |
probably benign |
Het |
| BC051019 |
A |
G |
7: 109,315,266 (GRCm39) |
Y330H |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Chek2 |
T |
G |
5: 110,987,916 (GRCm39) |
|
probably null |
Het |
| Cldn14 |
A |
G |
16: 93,716,615 (GRCm39) |
L77S |
probably damaging |
Het |
| Cox15 |
T |
C |
19: 43,728,380 (GRCm39) |
K298E |
possibly damaging |
Het |
| Cpt1b |
G |
T |
15: 89,305,607 (GRCm39) |
D369E |
probably benign |
Het |
| Cpxm1 |
T |
C |
2: 130,235,342 (GRCm39) |
N550S |
probably benign |
Het |
| Csdc2 |
A |
G |
15: 81,833,399 (GRCm39) |
E132G |
possibly damaging |
Het |
| Cyb5d2 |
A |
T |
11: 72,669,702 (GRCm39) |
C219S |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,367,278 (GRCm39) |
T480A |
probably benign |
Het |
| Fndc1 |
G |
A |
17: 7,983,969 (GRCm39) |
T1319I |
unknown |
Het |
| Gm5773 |
T |
G |
3: 93,680,565 (GRCm39) |
V79G |
probably damaging |
Het |
| Hsf2 |
G |
A |
10: 57,387,431 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,238,608 (GRCm39) |
T64A |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,143,176 (GRCm39) |
V316A |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,907,750 (GRCm39) |
D279G |
probably damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,716,206 (GRCm39) |
E143G |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,852,122 (GRCm39) |
E856K |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,568,773 (GRCm39) |
T1249A |
unknown |
Het |
| Myh6 |
G |
A |
14: 55,194,607 (GRCm39) |
R721W |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,183,611 (GRCm39) |
I669F |
unknown |
Het |
| N4bp2 |
A |
G |
5: 65,965,802 (GRCm39) |
T1284A |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,905,724 (GRCm39) |
M1T |
probably null |
Het |
| Obscn |
C |
T |
11: 58,990,603 (GRCm39) |
V1657M |
probably damaging |
Het |
| Olfr908 |
A |
G |
9: 38,427,624 (GRCm39) |
T99A |
possibly damaging |
Het |
| Or52a20 |
A |
G |
7: 103,366,560 (GRCm39) |
E253G |
possibly damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,638 (GRCm39) |
F104Y |
probably benign |
Het |
| Otud6b |
C |
A |
4: 14,818,389 (GRCm39) |
A171S |
possibly damaging |
Het |
| Pdcd2l |
A |
C |
7: 33,892,256 (GRCm39) |
D204E |
probably benign |
Het |
| Pdia2 |
T |
C |
17: 26,417,842 (GRCm39) |
S56G |
probably benign |
Het |
| Plcxd1 |
G |
A |
5: 110,250,369 (GRCm39) |
E237K |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,586,594 (GRCm39) |
F937L |
possibly damaging |
Het |
| Pth2 |
A |
T |
7: 44,830,733 (GRCm39) |
M6L |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,004,326 (GRCm39) |
K143I |
probably damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,427 (GRCm39) |
D487G |
probably benign |
Het |
| Rhbdf2 |
A |
T |
11: 116,494,775 (GRCm39) |
D300E |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,026,048 (GRCm39) |
V1265I |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGAGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
T |
A |
11: 29,683,790 (GRCm39) |
Y1027* |
probably null |
Het |
| Rxfp3 |
A |
G |
15: 11,037,216 (GRCm39) |
L52P |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,293,227 (GRCm39) |
Y830H |
probably benign |
Het |
| Serpinb3d |
C |
T |
1: 107,007,088 (GRCm39) |
V207I |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,190,972 (GRCm39) |
E1006G |
probably damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,661,201 (GRCm39) |
M324I |
possibly damaging |
Het |
| Slc37a1 |
T |
A |
17: 31,535,159 (GRCm39) |
F106I |
probably damaging |
Het |
| Snx14 |
A |
T |
9: 88,280,402 (GRCm39) |
S518T |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,851,935 (GRCm39) |
T330A |
probably damaging |
Het |
| Spata13 |
A |
T |
14: 60,993,698 (GRCm39) |
H1050L |
probably damaging |
Het |
| Sptssa |
A |
C |
12: 54,703,201 (GRCm39) |
V23G |
possibly damaging |
Het |
| Syt3 |
A |
T |
7: 44,042,091 (GRCm39) |
I317F |
probably damaging |
Het |
| Tars1 |
A |
C |
15: 11,399,458 (GRCm39) |
|
probably null |
Het |
| Tead3 |
T |
A |
17: 28,551,801 (GRCm39) |
T431S |
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,568,431 (GRCm39) |
E1526K |
possibly damaging |
Het |
| Tnni3 |
G |
A |
7: 4,524,891 (GRCm39) |
P12L |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,614,201 (GRCm39) |
H1207R |
probably benign |
Het |
| Trdn |
G |
T |
10: 33,133,058 (GRCm39) |
E107* |
probably null |
Het |
| Trp63 |
A |
G |
16: 25,701,375 (GRCm39) |
N483S |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,957,762 (GRCm39) |
S1009P |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,804,772 (GRCm39) |
V908A |
probably benign |
Het |
| Tsen34 |
A |
T |
7: 3,697,601 (GRCm39) |
M25L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,781,827 (GRCm39) |
E1073G |
unknown |
Het |
| Uaca |
A |
T |
9: 60,783,677 (GRCm39) |
I1380F |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,774,793 (GRCm39) |
T539A |
probably benign |
Het |
| Ugt1a5 |
T |
A |
1: 88,094,117 (GRCm39) |
M115K |
probably benign |
Het |
| Unc45b |
A |
T |
11: 82,813,726 (GRCm39) |
I378F |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,940,262 (GRCm39) |
R205Q |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,542,376 (GRCm39) |
L3314Q |
probably benign |
Het |
| Vezt |
A |
G |
10: 93,816,286 (GRCm39) |
L475P |
probably damaging |
Het |
| Vmn2r115 |
C |
T |
17: 23,564,772 (GRCm39) |
Q220* |
probably null |
Het |
| Yap1 |
T |
C |
9: 7,962,379 (GRCm39) |
Q223R |
probably benign |
Het |
| Zdhhc7 |
G |
A |
8: 120,813,467 (GRCm39) |
T114M |
possibly damaging |
Het |
| Zwilch |
A |
C |
9: 64,060,217 (GRCm39) |
C374G |
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 |
|
|
R2086:Plekha5
|
UTSW |
6 |
140,516,044 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- TGTGAAGTAACACTGTCCCTTCTG -3'
(R):5'- TAGGAGACTGCAATGCTCCTG -3'
Sequencing Primer
(F):5'- TGTAGGACCTATCATCATAGTGCC -3'
(R):5'- TCCTGCAGCGATGGCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation