Incidental Mutation 'R2015:Plekha5'
| ID |
222800 |
| 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 |
040024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R2015 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
140369780-140542836 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 140480290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087622]
[ENSMUST00000087622]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000203517]
[ENSMUST00000203774]
[ENSMUST00000203774]
[ENSMUST00000204145]
[ENSMUST00000204145]
[ENSMUST00000204876]
[ENSMUST00000204876]
[ENSMUST00000204876]
[ENSMUST00000204876]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000122528
|
| 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: 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 null
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 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: 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 null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000205255
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,022,672 (GRCm39) |
M1022K |
probably benign |
Het |
| Abhd4 |
T |
A |
14: 54,500,289 (GRCm39) |
H74Q |
probably damaging |
Het |
| Actg1 |
A |
G |
11: 120,237,636 (GRCm39) |
S49P |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
| Aire |
T |
C |
10: 77,878,792 (GRCm39) |
D85G |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,195,308 (GRCm39) |
D50V |
probably damaging |
Het |
| Ankrd13a |
C |
A |
5: 114,930,170 (GRCm39) |
A185E |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
| Armc8 |
A |
T |
9: 99,365,158 (GRCm39) |
C661* |
probably null |
Het |
| Bbs10 |
C |
T |
10: 111,136,716 (GRCm39) |
Q610* |
probably null |
Het |
| Blm |
T |
C |
7: 80,152,147 (GRCm39) |
E600G |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
| Cdk14 |
T |
C |
5: 5,430,082 (GRCm39) |
K15R |
probably benign |
Het |
| Cdr1 |
A |
G |
X: 60,228,420 (GRCm39) |
F249L |
probably benign |
Het |
| Cep250 |
A |
C |
2: 155,823,373 (GRCm39) |
H1009P |
probably damaging |
Het |
| Cfap97d1 |
C |
A |
11: 101,878,044 (GRCm39) |
H35Q |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
| Col19a1 |
C |
G |
1: 24,598,834 (GRCm39) |
G53A |
unknown |
Het |
| Cpne1 |
G |
A |
2: 155,920,308 (GRCm39) |
R166C |
probably damaging |
Het |
| Dtx3l |
G |
A |
16: 35,756,797 (GRCm39) |
H129Y |
probably benign |
Het |
| Ercc3 |
A |
G |
18: 32,381,482 (GRCm39) |
T433A |
probably benign |
Het |
| Gm9936 |
T |
A |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
C |
15: 76,132,734 (GRCm39) |
V167A |
probably damaging |
Het |
| H2ac25 |
T |
A |
11: 58,845,754 (GRCm39) |
L64Q |
probably damaging |
Het |
| Hcfc2 |
A |
G |
10: 82,574,814 (GRCm39) |
N618D |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,118,834 (GRCm39) |
V196A |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
| Igll1 |
A |
G |
16: 16,681,639 (GRCm39) |
S39P |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,408,951 (GRCm39) |
S1545P |
probably benign |
Het |
| Klra8 |
C |
A |
6: 130,092,536 (GRCm39) |
C255F |
probably damaging |
Het |
| Krtap4-6 |
A |
T |
11: 99,556,398 (GRCm39) |
C110S |
unknown |
Het |
| Lef1 |
T |
A |
3: 130,905,236 (GRCm39) |
I39N |
probably damaging |
Het |
| Lnpep |
G |
A |
17: 17,799,325 (GRCm39) |
T110I |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,376,563 (GRCm39) |
T4282S |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,457,337 (GRCm39) |
|
probably null |
Het |
| Ly6g5b |
A |
C |
17: 35,333,654 (GRCm39) |
S53A |
possibly damaging |
Het |
| M6pr |
T |
G |
6: 122,290,332 (GRCm39) |
N98K |
probably damaging |
Het |
| Mal2 |
T |
C |
15: 54,464,136 (GRCm39) |
*176Q |
probably null |
Het |
| Mansc1 |
T |
C |
6: 134,587,274 (GRCm39) |
D301G |
possibly damaging |
Het |
| Marchf1 |
C |
A |
8: 66,574,473 (GRCm39) |
N11K |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,240,007 (GRCm39) |
I338F |
probably benign |
Het |
| Mcm3 |
A |
G |
1: 20,873,804 (GRCm39) |
L772P |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,742,337 (GRCm39) |
G176D |
probably damaging |
Het |
| Mier2 |
A |
T |
10: 79,377,036 (GRCm39) |
|
probably null |
Het |
| Mogs |
C |
T |
6: 83,094,631 (GRCm39) |
R483* |
probably null |
Het |
| Msl2 |
G |
T |
9: 100,957,304 (GRCm39) |
|
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,582,499 (GRCm39) |
M530K |
probably damaging |
Het |
| Nde1 |
A |
T |
16: 13,987,321 (GRCm39) |
|
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,941,503 (GRCm39) |
|
probably null |
Het |
| Nhsl1 |
A |
T |
10: 18,387,340 (GRCm39) |
R205W |
probably damaging |
Het |
| Npffr2 |
T |
A |
5: 89,730,751 (GRCm39) |
I227N |
probably damaging |
Het |
| Nup210l |
T |
A |
3: 90,092,739 (GRCm39) |
L1231Q |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,784 (GRCm39) |
E271G |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,222 (GRCm39) |
I72T |
possibly damaging |
Het |
| Pclo |
C |
A |
5: 14,571,515 (GRCm39) |
P300Q |
probably damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
| Pls1 |
A |
G |
9: 95,643,418 (GRCm39) |
V527A |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,310,538 (GRCm39) |
M15T |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,581,602 (GRCm39) |
C152* |
probably null |
Het |
| Ptprq |
T |
G |
10: 107,503,283 (GRCm39) |
K792Q |
probably damaging |
Het |
| Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,853,681 (GRCm39) |
M296T |
probably benign |
Het |
| Rfc3 |
T |
C |
5: 151,571,003 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
A |
G |
14: 56,724,426 (GRCm39) |
N1090S |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
| Sdsl |
G |
A |
5: 120,601,218 (GRCm39) |
T18M |
probably damaging |
Het |
| Sepsecs |
T |
A |
5: 52,804,966 (GRCm39) |
Q365L |
probably benign |
Het |
| Sgta |
A |
T |
10: 80,887,130 (GRCm39) |
V45E |
probably damaging |
Het |
| Slc25a46 |
A |
T |
18: 31,742,778 (GRCm39) |
H29Q |
probably benign |
Het |
| Slc2a8 |
A |
C |
2: 32,871,392 (GRCm39) |
V136G |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,736,259 (GRCm39) |
N166K |
probably damaging |
Het |
| Spata21 |
C |
T |
4: 140,834,640 (GRCm39) |
Q505* |
probably null |
Het |
| Strn4 |
T |
C |
7: 16,566,953 (GRCm39) |
S458P |
possibly damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,183,885 (GRCm39) |
T248M |
probably damaging |
Het |
| Trabd |
T |
A |
15: 88,968,929 (GRCm39) |
M149K |
possibly damaging |
Het |
| Trpv3 |
A |
T |
11: 73,170,653 (GRCm39) |
N178Y |
probably damaging |
Het |
| Try5 |
C |
T |
6: 41,291,585 (GRCm39) |
|
probably null |
Het |
| Tsg101 |
C |
T |
7: 46,558,652 (GRCm39) |
|
probably null |
Het |
| Ube3b |
A |
G |
5: 114,549,210 (GRCm39) |
E738G |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,581 (GRCm39) |
S631P |
probably damaging |
Het |
| Unc5d |
T |
C |
8: 29,249,007 (GRCm39) |
T297A |
probably damaging |
Het |
| Usp18 |
A |
T |
6: 121,245,509 (GRCm39) |
E1V |
probably damaging |
Het |
| Vapb |
C |
A |
2: 173,613,391 (GRCm39) |
P97T |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,589,356 (GRCm39) |
D66V |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,954 (GRCm39) |
M332K |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
| Vwde |
C |
A |
6: 13,208,337 (GRCm39) |
G182C |
possibly damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,008,352 (GRCm39) |
S2778A |
probably null |
Het |
| Zbtb2 |
T |
A |
10: 4,319,757 (GRCm39) |
I90F |
possibly damaging |
Het |
| Zfp518b |
C |
A |
5: 38,829,345 (GRCm39) |
V887F |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,528,286 (GRCm39) |
T324A |
probably benign |
Het |
| Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
possibly 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 |
|
|
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 |
|
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'- AACTAGAGCATGGAGTGTGTTG -3'
(R):5'- TGTGCCATGCTAGTACGTGC -3'
Sequencing Primer
(F):5'- GTTGGGACTTGGGACAGG -3'
(R):5'- GCTAGTACGTGCTTCCTAAAAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation