Incidental Mutation 'R0067:Plekha5'
| ID |
59640 |
| 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 |
038358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R0067 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
140369780-140542836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140470629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 90
(T90I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087622]
[ENSMUST00000203517]
[ENSMUST00000203774]
[ENSMUST00000204145]
[ENSMUST00000204876]
|
| AlphaFold |
E9Q6H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087622
AA Change: T90I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: T90I
| 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: ENSMUST00000203517
AA Change: T90I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: T90I
| 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 |
unknown
Transcript: ENSMUST00000203955
AA Change: T13I
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204145
AA Change: T90I
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
AA Change: T90I
| 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 |
|
| Meta Mutation Damage Score |
0.1937 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
| Adamts9 |
T |
A |
6: 92,867,148 (GRCm39) |
K79N |
probably damaging |
Het |
| AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
| Cep97 |
A |
T |
16: 55,735,924 (GRCm39) |
N291K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,932,906 (GRCm39) |
L5P |
possibly damaging |
Het |
| Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,040,313 (GRCm39) |
V119A |
possibly damaging |
Het |
| Eml1 |
A |
G |
12: 108,429,786 (GRCm39) |
D23G |
possibly damaging |
Het |
| Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
| Glo1 |
A |
T |
17: 30,813,245 (GRCm39) |
|
probably null |
Het |
| Gm11360 |
T |
A |
13: 28,140,214 (GRCm39) |
M26K |
probably benign |
Het |
| Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
| Gypa |
A |
G |
8: 81,229,710 (GRCm39) |
H102R |
possibly damaging |
Het |
| Hdac4 |
G |
A |
1: 91,957,706 (GRCm39) |
H103Y |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,244,200 (GRCm39) |
D110G |
probably damaging |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,637 (GRCm39) |
M332K |
probably damaging |
Het |
| Memo1 |
A |
G |
17: 74,532,453 (GRCm39) |
V185A |
probably damaging |
Het |
| Mtrex |
C |
T |
13: 113,023,396 (GRCm39) |
V727I |
probably benign |
Het |
| Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
| Myh14 |
G |
A |
7: 44,272,551 (GRCm39) |
T1418I |
probably benign |
Het |
| Pbk |
G |
A |
14: 66,052,675 (GRCm39) |
V173I |
possibly damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
| Rasgrp1 |
C |
A |
2: 117,125,301 (GRCm39) |
R246S |
probably damaging |
Het |
| Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
| Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
T |
A |
12: 100,582,342 (GRCm39) |
I177F |
probably damaging |
Het |
| Rtn2 |
T |
A |
7: 19,028,396 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,111,364 (GRCm39) |
T165A |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,466 (GRCm39) |
|
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,247,773 (GRCm39) |
N5Y |
probably benign |
Het |
| Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,352 (GRCm39) |
E339D |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
| Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,333,477 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
G |
C |
9: 121,301,973 (GRCm39) |
V910L |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,131 (GRCm39) |
V326A |
probably benign |
Het |
| Tshr |
A |
G |
12: 91,472,057 (GRCm39) |
T136A |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,884,708 (GRCm39) |
R65C |
probably null |
Het |
| Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,040 (GRCm39) |
D366G |
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 |
|
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 |
|
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'- CAGATGTGACTTGTGTCTCACCCG -3'
(R):5'- GAGCTGACACTGTTGTCTGTGACC -3'
Sequencing Primer
(F):5'- ATGTATCGGTGAACTGCACTC -3'
(R):5'- CGCGTCCAGGTACAAGTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation