Incidental Mutation 'R4049:Plekha5'
| ID |
314034 |
| 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 |
041616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R4049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
140369780-140542836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140529597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 75
(S75P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087622]
[ENSMUST00000203012]
[ENSMUST00000203483]
[ENSMUST00000203517]
[ENSMUST00000204080]
[ENSMUST00000205026]
[ENSMUST00000204145]
[ENSMUST00000213444]
|
| AlphaFold |
E9Q6H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087622
AA Change: S1020P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: S1020P
| 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 damaging
Transcript: ENSMUST00000203012
AA Change: S541P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: S541P
| 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 |
noncoding transcript
Transcript: ENSMUST00000203315
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203483
AA Change: S75P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
AA Change: S75P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
261 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203517
AA Change: S912P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: S912P
| 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 |
unknown
Transcript: ENSMUST00000203955
AA Change: S867P
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204080
AA Change: S488P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: S488P
| 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: ENSMUST00000205026
AA Change: S433P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: S433P
| 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 |
noncoding transcript
Transcript: ENSMUST00000204755
|
| 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: ENSMUST00000205255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204528
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213444
AA Change: S347P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.2259 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,832,404 (GRCm39) |
E1190V |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 15,029,998 (GRCm39) |
T928A |
probably benign |
Het |
| Arhgef10l |
T |
A |
4: 140,242,762 (GRCm39) |
I836F |
probably benign |
Het |
| Blm |
T |
A |
7: 80,152,610 (GRCm39) |
T446S |
probably benign |
Het |
| Ccdc63 |
T |
A |
5: 122,260,813 (GRCm39) |
Q237L |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,904 (GRCm39) |
D137G |
probably damaging |
Het |
| Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
| Clstn2 |
T |
G |
9: 97,339,613 (GRCm39) |
E786A |
possibly damaging |
Het |
| Col16a1 |
C |
T |
4: 129,962,545 (GRCm39) |
P540L |
probably damaging |
Het |
| Csf2 |
A |
G |
11: 54,140,159 (GRCm39) |
F61L |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,654,750 (GRCm39) |
R1094C |
unknown |
Het |
| Cyp3a41a |
A |
G |
5: 145,650,350 (GRCm39) |
C98R |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,984,508 (GRCm39) |
C404* |
probably null |
Het |
| Egfem1 |
A |
C |
3: 29,740,880 (GRCm39) |
H518P |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,182,015 (GRCm39) |
S369G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,788,577 (GRCm39) |
V503M |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,444,240 (GRCm39) |
D105G |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,966,428 (GRCm39) |
L250P |
probably damaging |
Het |
| Gdf15 |
A |
T |
8: 71,082,605 (GRCm39) |
M167K |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
| Herc3 |
A |
G |
6: 58,853,822 (GRCm39) |
I623V |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
| Map1lc3a |
G |
T |
2: 155,119,462 (GRCm39) |
V91F |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,913,394 (GRCm39) |
V617A |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,879,235 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,220,494 (GRCm39) |
|
probably null |
Het |
| Nfe2 |
C |
T |
15: 103,159,364 (GRCm39) |
E36K |
possibly damaging |
Het |
| Oprm1 |
G |
A |
10: 6,779,087 (GRCm39) |
V95I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,498,006 (GRCm39) |
I75V |
probably benign |
Het |
| Or4c107 |
A |
G |
2: 88,789,617 (GRCm39) |
K269R |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,575 (GRCm39) |
F241L |
probably benign |
Het |
| Or5d46 |
T |
C |
2: 88,174,144 (GRCm39) |
|
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,130,995 (GRCm39) |
H21Q |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,520,808 (GRCm39) |
I62F |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,407,053 (GRCm39) |
C435S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,361,953 (GRCm39) |
C542Y |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,362,987 (GRCm39) |
A202E |
probably damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,223,414 (GRCm39) |
T43A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,592,298 (GRCm39) |
N199S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,757 (GRCm39) |
L199P |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,373,274 (GRCm39) |
M4939L |
possibly damaging |
Het |
| Slc23a2 |
C |
T |
2: 131,902,603 (GRCm39) |
R533Q |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,610,548 (GRCm39) |
|
probably null |
Het |
| Snrpd2 |
T |
A |
7: 18,885,232 (GRCm39) |
V31E |
probably damaging |
Het |
| Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
T |
C |
4: 131,627,854 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,737,630 (GRCm39) |
S1274P |
probably damaging |
Het |
| Tcof1 |
C |
A |
18: 60,965,975 (GRCm39) |
A376S |
possibly damaging |
Het |
| Thsd1 |
T |
A |
8: 22,733,180 (GRCm39) |
Y76N |
possibly damaging |
Het |
| Timm44 |
A |
G |
8: 4,310,561 (GRCm39) |
V397A |
probably benign |
Het |
| Tmc6 |
G |
A |
11: 117,669,087 (GRCm39) |
T89I |
possibly damaging |
Het |
| Trbv31 |
C |
A |
6: 41,534,639 (GRCm39) |
C107F |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,031,429 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,059,573 (GRCm39) |
V1226A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,550,931 (GRCm39) |
V865A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,966 (GRCm39) |
M550K |
probably damaging |
Het |
| Vps54 |
C |
A |
11: 21,250,183 (GRCm39) |
T373N |
probably benign |
Het |
| Wdr64 |
T |
G |
1: 175,633,422 (GRCm39) |
I891S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,463,919 (GRCm39) |
S1384L |
probably damaging |
Het |
| Zfp703 |
A |
G |
8: 27,469,113 (GRCm39) |
E259G |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,910,969 (GRCm39) |
H209R |
probably damaging |
Het |
| Zfp980 |
A |
G |
4: 145,429,170 (GRCm39) |
H633R |
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 |
|
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'- GAAGCCTGTGTGTCAAGTGG -3'
(R):5'- GGTTGACCAAGATACCGTGC -3'
Sequencing Primer
(F):5'- CAGGAGAACACTCACTGTTGATG -3'
(R):5'- TGCTTGGCTGTCCTGAACAAAAAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation