Incidental Mutation 'R2102:Plekha5'
| ID |
230571 |
| 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 |
040106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2102 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
140369780-140542836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140518603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 297
(A297T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144973
(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: A821T
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: A821T
| 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
AA Change: A342T
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: A342T
| 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 benign
Transcript: ENSMUST00000203483
|
| SMART Domains |
Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
261 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203517
AA Change: A776T
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: A776T
| 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: A668T
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204080
AA Change: A352T
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: A352T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
220 |
260 |
1e-8 |
BLAST |
|
coiled coil region
|
278 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205026
AA Change: A297T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: A297T
| 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 |
probably damaging
Transcript: ENSMUST00000213444
AA Change: A148T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,770,934 (GRCm39) |
L41P |
probably damaging |
Het |
| Abca8a |
G |
T |
11: 109,958,878 (GRCm39) |
P749T |
probably damaging |
Het |
| Acad8 |
A |
T |
9: 26,896,861 (GRCm39) |
Y199* |
probably null |
Het |
| Acot12 |
A |
T |
13: 91,908,096 (GRCm39) |
I93L |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,191,949 (GRCm39) |
Y542* |
probably null |
Het |
| Actn1 |
C |
A |
12: 80,230,291 (GRCm39) |
R321L |
probably benign |
Het |
| Ap3s1 |
A |
G |
18: 46,887,469 (GRCm39) |
E34G |
possibly damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,459 (GRCm39) |
Y83H |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,870,017 (GRCm39) |
S533P |
probably damaging |
Het |
| Bcorl1 |
T |
C |
X: 47,458,081 (GRCm39) |
V538A |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,875,206 (GRCm39) |
T689A |
probably damaging |
Het |
| Cdk19 |
A |
T |
10: 40,355,726 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
G |
T |
2: 64,928,554 (GRCm39) |
P923Q |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,421,585 (GRCm39) |
S456P |
probably benign |
Het |
| Cst11 |
T |
C |
2: 148,613,160 (GRCm39) |
Y55C |
probably damaging |
Het |
| Ctif |
T |
G |
18: 75,654,452 (GRCm39) |
D358A |
probably benign |
Het |
| Cyp2d34 |
T |
G |
15: 82,500,974 (GRCm39) |
E386A |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,133 (GRCm39) |
F104L |
probably benign |
Het |
| Dmbt1 |
G |
T |
7: 130,703,762 (GRCm39) |
W1107C |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,466,830 (GRCm39) |
I567F |
probably damaging |
Het |
| Ednrb |
T |
A |
14: 104,058,350 (GRCm39) |
R318* |
probably null |
Het |
| Exd2 |
T |
C |
12: 80,527,377 (GRCm39) |
I36T |
possibly damaging |
Het |
| Fam83b |
A |
T |
9: 76,399,987 (GRCm39) |
I372N |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,763,100 (GRCm39) |
V518A |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,625,162 (GRCm39) |
E308G |
possibly damaging |
Het |
| Foxl2 |
A |
C |
9: 98,838,282 (GRCm39) |
Y190S |
probably damaging |
Het |
| Gab3 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 74,043,585 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
C |
T |
5: 131,114,831 (GRCm39) |
R223Q |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,127 (GRCm39) |
D37N |
possibly damaging |
Het |
| Gpr82 |
T |
C |
X: 13,532,274 (GRCm39) |
V274A |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,566 (GRCm39) |
N292S |
probably damaging |
Het |
| Ints1 |
C |
T |
5: 139,741,754 (GRCm39) |
V1826M |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,896,561 (GRCm39) |
D1440G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,963,200 (GRCm39) |
D1552G |
probably damaging |
Het |
| Kel |
G |
A |
6: 41,663,418 (GRCm39) |
T702I |
possibly damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,266 (GRCm39) |
V36A |
probably damaging |
Het |
| Klhl23 |
A |
T |
2: 69,659,228 (GRCm39) |
I418F |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,510,674 (GRCm39) |
I1329L |
probably benign |
Het |
| Krtap2-4 |
T |
C |
11: 99,505,606 (GRCm39) |
|
probably benign |
Het |
| Krtap9-5 |
T |
A |
11: 99,840,270 (GRCm39) |
C324S |
unknown |
Het |
| Lepr |
T |
C |
4: 101,630,178 (GRCm39) |
V631A |
possibly damaging |
Het |
| Lifr |
T |
C |
15: 7,216,404 (GRCm39) |
I793T |
probably damaging |
Het |
| Mcoln1 |
G |
A |
8: 3,561,731 (GRCm39) |
R427H |
probably damaging |
Het |
| Mgat5b |
G |
A |
11: 116,810,255 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
G |
A |
9: 7,349,802 (GRCm39) |
V78M |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,634 (GRCm39) |
L102M |
possibly damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,949 (GRCm39) |
T246A |
possibly damaging |
Het |
| Myo7b |
A |
T |
18: 32,133,031 (GRCm39) |
F439L |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,408,024 (GRCm39) |
D1088V |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,623,471 (GRCm39) |
F1004S |
probably benign |
Het |
| Palld |
A |
T |
8: 61,986,467 (GRCm39) |
M788K |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,234,465 (GRCm39) |
Y1423* |
probably null |
Het |
| Pfkm |
A |
G |
15: 98,027,171 (GRCm39) |
K615E |
probably damaging |
Het |
| Pkd1l2 |
G |
T |
8: 117,808,208 (GRCm39) |
D105E |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,944,810 (GRCm39) |
M2051K |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,162,949 (GRCm39) |
T524A |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,209,067 (GRCm39) |
E447G |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 185,014,586 (GRCm39) |
D1225G |
probably benign |
Het |
| Rep15 |
A |
G |
6: 146,934,403 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
G |
A |
17: 34,152,314 (GRCm39) |
|
probably null |
Het |
| Rpl7a |
T |
G |
2: 26,801,473 (GRCm39) |
V55G |
possibly damaging |
Het |
| Rtp1 |
A |
T |
16: 23,250,108 (GRCm39) |
I158F |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,819,334 (GRCm39) |
V127E |
probably benign |
Het |
| Sele |
T |
A |
1: 163,881,395 (GRCm39) |
C501S |
probably damaging |
Het |
| Serpina11 |
C |
T |
12: 103,949,104 (GRCm39) |
V358I |
probably benign |
Het |
| Slc16a4 |
A |
G |
3: 107,211,819 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,055,656 (GRCm39) |
I82V |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,431,304 (GRCm39) |
E971G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,595 (GRCm39) |
L91P |
probably damaging |
Het |
| Spata31f3 |
T |
A |
4: 42,868,558 (GRCm39) |
H355L |
probably benign |
Het |
| Spopfm2 |
A |
T |
3: 94,082,973 (GRCm39) |
C279* |
probably null |
Het |
| Srrm2 |
A |
G |
17: 24,036,722 (GRCm39) |
|
probably benign |
Het |
| Sting1 |
A |
T |
18: 35,868,290 (GRCm39) |
M270K |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,006,514 (GRCm39) |
W7980R |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,853 (GRCm39) |
T4598A |
probably benign |
Het |
| Tmem171 |
A |
T |
13: 98,828,851 (GRCm39) |
F100I |
probably damaging |
Het |
| Tnfrsf10b |
A |
G |
14: 70,013,546 (GRCm39) |
T159A |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,309,834 (GRCm39) |
|
probably null |
Het |
| Trim46 |
A |
T |
3: 89,142,504 (GRCm39) |
I638N |
probably damaging |
Het |
| Ubl7 |
G |
A |
9: 57,827,825 (GRCm39) |
D171N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,608,779 (GRCm39) |
Y1514H |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,334 (GRCm39) |
I742V |
probably damaging |
Het |
| Xrcc2 |
A |
T |
5: 25,897,505 (GRCm39) |
V148E |
probably damaging |
Het |
| Zbed3 |
A |
G |
13: 95,472,615 (GRCm39) |
D13G |
possibly damaging |
Het |
| Zdhhc25 |
T |
A |
15: 88,484,962 (GRCm39) |
L99Q |
probably benign |
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 |
|
|
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'- TTCAATCTTCAGCACTGCCAAAG -3'
(R):5'- TCACTGAAGACACTCCACTGTG -3'
Sequencing Primer
(F):5'- CTCTGGAAGAACAGTCAGTGCTC -3'
(R):5'- TGTATCCGCAGAGGCCAACAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation