Incidental Mutation 'R7792:Plekha5'
| ID |
599935 |
| 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 |
045848-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R7792 (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 G
at 140534950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1126
(E1126G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087622]
[ENSMUST00000203012]
[ENSMUST00000203483]
[ENSMUST00000203517]
[ENSMUST00000204080]
[ENSMUST00000204145]
[ENSMUST00000205026]
[ENSMUST00000213444]
|
| AlphaFold |
E9Q6H8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087622
AA Change: E1126G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: E1126G
| 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 |
possibly damaging
Transcript: ENSMUST00000203012
AA Change: E647G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: E647G
| 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: ENSMUST00000203483
AA Change: E181G
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
AA Change: E181G
| 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 benign
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 benign
Transcript: ENSMUST00000203955
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204080
AA Change: E594G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: E594G
| 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 |
possibly damaging
Transcript: ENSMUST00000205026
AA Change: E539G
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: E539G
| 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 |
possibly damaging
Transcript: ENSMUST00000213444
AA Change: E453G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.0875 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (97/97) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
T |
8: 111,769,896 (GRCm39) |
V332F |
possibly damaging |
Het |
| Abhd15 |
T |
A |
11: 77,409,560 (GRCm39) |
S425T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,250,840 (GRCm39) |
F152L |
probably damaging |
Het |
| Acp3 |
T |
A |
9: 104,204,165 (GRCm39) |
H43L |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,480 (GRCm39) |
S315G |
probably benign |
Het |
| Agxt2 |
A |
T |
15: 10,381,472 (GRCm39) |
D242V |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,473,056 (GRCm39) |
D18G |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,610,970 (GRCm39) |
S2639P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,295,453 (GRCm39) |
V1204D |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,267,256 (GRCm39) |
T579A |
probably benign |
Het |
| B4galt1 |
C |
T |
4: 40,809,373 (GRCm39) |
G332S |
probably benign |
Het |
| B4galt4 |
C |
A |
16: 38,578,172 (GRCm39) |
Y206* |
probably null |
Het |
| Bcl2l14 |
A |
T |
6: 134,409,277 (GRCm39) |
T284S |
possibly damaging |
Het |
| Bop1 |
C |
T |
15: 76,338,548 (GRCm39) |
V465M |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,567,977 (GRCm39) |
L1037H |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,568,523 (GRCm39) |
T254M |
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,890,389 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
A |
T |
8: 129,618,918 (GRCm39) |
D875E |
possibly damaging |
Het |
| Cenpu |
A |
G |
8: 47,015,502 (GRCm39) |
D139G |
possibly damaging |
Het |
| Cep57l1 |
A |
T |
10: 41,598,936 (GRCm39) |
C292* |
probably null |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Chst14 |
A |
G |
2: 118,758,256 (GRCm39) |
H350R |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,455,492 (GRCm39) |
I434F |
possibly damaging |
Het |
| Crispld2 |
A |
G |
8: 120,757,809 (GRCm39) |
T385A |
probably benign |
Het |
| Crmp1 |
A |
C |
5: 37,441,439 (GRCm39) |
N507T |
probably damaging |
Het |
| Cyp4f40 |
T |
A |
17: 32,890,143 (GRCm39) |
I271N |
probably damaging |
Het |
| D630003M21Rik |
G |
T |
2: 158,052,082 (GRCm39) |
Q670K |
possibly damaging |
Het |
| Ddx42 |
T |
C |
11: 106,127,822 (GRCm39) |
I342T |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,740,839 (GRCm39) |
I4116F |
probably damaging |
Het |
| Ehd2 |
T |
C |
7: 15,684,683 (GRCm39) |
H372R |
probably benign |
Het |
| Gja8 |
C |
A |
3: 96,827,092 (GRCm39) |
C190F |
probably damaging |
Het |
| Gm8297 |
A |
T |
14: 16,165,939 (GRCm39) |
D72V |
possibly damaging |
Het |
| Golgb1 |
A |
G |
16: 36,739,092 (GRCm39) |
D2518G |
probably benign |
Het |
| Hsd17b12 |
C |
A |
2: 93,863,986 (GRCm39) |
M285I |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,950,133 (GRCm39) |
E196G |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,273 (GRCm39) |
N413S |
probably benign |
Het |
| Irf2 |
G |
A |
8: 47,260,314 (GRCm39) |
R82Q |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,779,493 (GRCm39) |
D259G |
possibly damaging |
Het |
| Jph1 |
T |
A |
1: 17,074,602 (GRCm39) |
Q472L |
probably benign |
Het |
| Kif2a |
T |
C |
13: 107,124,490 (GRCm39) |
Q142R |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,929,515 (GRCm39) |
Y174C |
probably damaging |
Het |
| Mapk14 |
T |
C |
17: 28,965,271 (GRCm39) |
F348L |
probably damaging |
Het |
| Marchf10 |
G |
T |
11: 105,281,054 (GRCm39) |
D410E |
probably benign |
Het |
| Mff |
A |
T |
1: 82,724,802 (GRCm39) |
|
probably null |
Het |
| Mtrex |
A |
T |
13: 113,009,443 (GRCm39) |
D985E |
probably benign |
Het |
| Necab3 |
G |
A |
2: 154,388,200 (GRCm39) |
R271C |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,021,182 (GRCm39) |
F556L |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,878,385 (GRCm39) |
K425E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,296,302 (GRCm39) |
W511R |
probably damaging |
Het |
| Or1j18 |
A |
C |
2: 36,624,342 (GRCm39) |
E3A |
probably benign |
Het |
| Or2v1 |
T |
A |
11: 49,025,496 (GRCm39) |
I159N |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,748 (GRCm39) |
I257T |
probably benign |
Het |
| Or52p2 |
T |
A |
7: 102,238,090 (GRCm39) |
|
probably benign |
Het |
| P2rx2 |
G |
C |
5: 110,488,210 (GRCm39) |
A448G |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,618,757 (GRCm39) |
N56K |
possibly damaging |
Het |
| Pdzd7 |
A |
C |
19: 45,028,657 (GRCm39) |
M162R |
possibly damaging |
Het |
| Phyhd1 |
A |
G |
2: 30,156,782 (GRCm39) |
M1V |
probably null |
Het |
| Plaat3 |
T |
C |
19: 7,556,660 (GRCm39) |
C154R |
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,287,886 (GRCm39) |
V87D |
probably damaging |
Het |
| Pole |
G |
A |
5: 110,445,332 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
A |
G |
4: 143,381,123 (GRCm39) |
L300P |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,942,957 (GRCm39) |
M207V |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,552,403 (GRCm39) |
S467T |
probably damaging |
Het |
| Rasgrp4 |
G |
T |
7: 28,842,527 (GRCm39) |
R267L |
probably damaging |
Het |
| Rbm20 |
T |
C |
19: 53,838,567 (GRCm39) |
I848T |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,061,923 (GRCm39) |
S56P |
possibly damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,656 (GRCm39) |
D289N |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,447,222 (GRCm39) |
D3089E |
probably benign |
Het |
| Sall2 |
C |
T |
14: 52,553,521 (GRCm39) |
G16R |
probably damaging |
Het |
| Scgb1b19 |
G |
A |
7: 32,987,912 (GRCm39) |
C93Y |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,297,334 (GRCm39) |
K1442* |
probably null |
Het |
| Sepsecs |
A |
G |
5: 52,801,391 (GRCm39) |
S424P |
probably damaging |
Het |
| Set |
G |
T |
2: 29,960,323 (GRCm39) |
V219F |
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,868,295 (GRCm39) |
F390I |
probably damaging |
Het |
| Simc1 |
G |
A |
13: 54,695,143 (GRCm39) |
V1269M |
probably damaging |
Het |
| Ska3 |
T |
G |
14: 58,047,512 (GRCm39) |
D341A |
probably damaging |
Het |
| Slc16a10 |
A |
T |
10: 39,913,411 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
A |
10: 121,761,872 (GRCm39) |
N92I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,431,624 (GRCm39) |
V639A |
probably damaging |
Het |
| Stk11 |
A |
T |
10: 79,961,271 (GRCm39) |
|
probably benign |
Het |
| Sult5a1 |
G |
A |
8: 123,872,180 (GRCm39) |
H221Y |
probably benign |
Het |
| Sytl3 |
T |
A |
17: 7,003,977 (GRCm39) |
M559K |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,794,897 (GRCm39) |
D528E |
possibly damaging |
Het |
| Tbc1d15 |
A |
G |
10: 115,057,492 (GRCm39) |
I218T |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,423,221 (GRCm39) |
M672K |
possibly damaging |
Het |
| Tent4b |
A |
T |
8: 88,979,182 (GRCm39) |
Q561L |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Thsd1 |
G |
T |
8: 22,733,114 (GRCm39) |
G54W |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,800,275 (GRCm39) |
L618I |
probably damaging |
Het |
| Top3a |
T |
C |
11: 60,633,790 (GRCm39) |
S769G |
probably benign |
Het |
| Trp63 |
C |
A |
16: 25,686,974 (GRCm39) |
P396Q |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,247,065 (GRCm39) |
S311G |
probably damaging |
Het |
| Usp10 |
G |
A |
8: 120,678,740 (GRCm39) |
E574K |
possibly damaging |
Het |
| Wfdc6b |
T |
A |
2: 164,459,822 (GRCm39) |
I148K |
probably damaging |
Het |
| Zcchc2 |
T |
G |
1: 105,945,982 (GRCm39) |
I474R |
probably damaging |
Het |
| Zdhhc2 |
A |
G |
8: 40,900,182 (GRCm39) |
K82R |
probably benign |
Het |
| Zfp273 |
A |
G |
13: 67,974,135 (GRCm39) |
D421G |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,238,601 (GRCm39) |
I639T |
probably damaging |
Het |
| Zfp429 |
A |
T |
13: 67,538,558 (GRCm39) |
C295* |
probably null |
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 |
|
R7743:Plekha5
|
UTSW |
6 |
140,501,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCCAAACCAAAGTGCTGTAAG -3'
(R):5'- AGAGCTCTCTGACTAAAAGCAC -3'
Sequencing Primer
(F):5'- GAGGATTTCCATACCAGCCTAGG -3'
(R):5'- TCTCTGACTAAAAGCACACCTTAATC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation