Incidental Mutation 'R8301:Plekha6'
ID |
639234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
067789-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R8301 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 133192425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 78
(N78K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038295
AA Change: N78K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: N78K
Domain | Start | End | E-Value | Type |
PH
|
60 |
160 |
2.23e-20 |
SMART |
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
Blast:PH
|
506 |
576 |
6e-31 |
BLAST |
coiled coil region
|
613 |
686 |
N/A |
INTRINSIC |
low complexity region
|
761 |
782 |
N/A |
INTRINSIC |
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
low complexity region
|
1139 |
1153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105082
AA Change: N78K
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757 AA Change: N78K
Domain | Start | End | E-Value | Type |
PH
|
60 |
180 |
1.24e-18 |
SMART |
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
coiled coil region
|
559 |
632 |
N/A |
INTRINSIC |
low complexity region
|
707 |
728 |
N/A |
INTRINSIC |
low complexity region
|
1035 |
1049 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186917
AA Change: N78K
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757 AA Change: N78K
Domain | Start | End | E-Value | Type |
PH
|
60 |
180 |
1.24e-18 |
SMART |
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
coiled coil region
|
559 |
632 |
N/A |
INTRINSIC |
low complexity region
|
707 |
728 |
N/A |
INTRINSIC |
low complexity region
|
1035 |
1049 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187285
AA Change: N78K
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757 AA Change: N78K
Domain | Start | End | E-Value | Type |
PH
|
60 |
160 |
9.6e-23 |
SMART |
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
coiled coil region
|
539 |
612 |
N/A |
INTRINSIC |
low complexity region
|
687 |
708 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1028 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212252
AA Change: N182K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,120,364 (GRCm39) |
I374F |
probably benign |
Het |
Ak9 |
G |
A |
10: 41,300,712 (GRCm39) |
V1108I |
|
Het |
Aldh16a1 |
C |
T |
7: 44,791,406 (GRCm39) |
A790T |
possibly damaging |
Het |
Anks1 |
A |
T |
17: 28,278,554 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
T |
G |
5: 98,125,538 (GRCm39) |
T240P |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,250,058 (GRCm39) |
M945K |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,528,866 (GRCm39) |
T1591A |
probably benign |
Het |
Aurka |
A |
G |
2: 172,198,850 (GRCm39) |
S374P |
probably damaging |
Het |
Bccip |
T |
C |
7: 133,320,933 (GRCm39) |
S236P |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,001,179 (GRCm39) |
|
probably benign |
Het |
Calm1 |
A |
G |
12: 100,171,944 (GRCm39) |
E132G |
probably benign |
Het |
Casz1 |
A |
G |
4: 149,030,500 (GRCm39) |
D1173G |
probably damaging |
Het |
Cdh17 |
A |
G |
4: 11,795,659 (GRCm39) |
D413G |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,450,271 (GRCm39) |
I617T |
possibly damaging |
Het |
Creb5 |
A |
G |
6: 53,658,018 (GRCm39) |
D116G |
possibly damaging |
Het |
Csnka2ip |
A |
C |
16: 64,299,354 (GRCm39) |
S337A |
unknown |
Het |
Ddx60 |
A |
G |
8: 62,453,631 (GRCm39) |
E1250G |
probably benign |
Het |
Dlgap2 |
T |
A |
8: 14,873,577 (GRCm39) |
S727T |
probably benign |
Het |
Dpy19l1 |
T |
C |
9: 24,396,407 (GRCm39) |
|
probably benign |
Het |
Ebf2 |
A |
G |
14: 67,476,431 (GRCm39) |
T134A |
possibly damaging |
Het |
Echdc2 |
A |
T |
4: 108,030,106 (GRCm39) |
M136L |
probably benign |
Het |
Enpp2 |
A |
G |
15: 54,714,803 (GRCm39) |
F598S |
probably benign |
Het |
Extl3 |
A |
C |
14: 65,313,733 (GRCm39) |
L483R |
probably damaging |
Het |
Gcat |
T |
C |
15: 78,920,089 (GRCm39) |
V227A |
possibly damaging |
Het |
Hsf2 |
A |
G |
10: 57,381,442 (GRCm39) |
D344G |
probably damaging |
Het |
Ighm |
C |
T |
12: 113,385,165 (GRCm39) |
G265D |
|
Het |
Igsf9b |
T |
G |
9: 27,246,035 (GRCm39) |
|
probably benign |
Het |
Ints6 |
A |
G |
14: 62,939,902 (GRCm39) |
V596A |
probably benign |
Het |
Ints8 |
T |
C |
4: 11,246,120 (GRCm39) |
E182G |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,818,659 (GRCm39) |
|
probably null |
Het |
Kalrn |
G |
T |
16: 34,177,470 (GRCm39) |
Q250K |
probably benign |
Het |
Lrrc1 |
T |
A |
9: 77,451,770 (GRCm39) |
N46Y |
probably damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naa50 |
A |
G |
16: 43,977,494 (GRCm39) |
N74S |
probably benign |
Het |
Neb |
T |
C |
2: 52,178,847 (GRCm39) |
N1303S |
probably benign |
Het |
Nfs1 |
A |
T |
2: 155,976,413 (GRCm39) |
C160* |
probably null |
Het |
Or11g7 |
T |
A |
14: 50,691,021 (GRCm39) |
S171T |
probably benign |
Het |
Or52s1b |
T |
G |
7: 102,822,280 (GRCm39) |
K188T |
probably damaging |
Het |
Or5p52 |
A |
G |
7: 107,502,833 (GRCm39) |
K303R |
probably benign |
Het |
Or6c76 |
T |
C |
10: 129,612,709 (GRCm39) |
S309P |
probably benign |
Het |
Orm2 |
T |
C |
4: 63,281,263 (GRCm39) |
F67S |
possibly damaging |
Het |
Pex5 |
A |
G |
6: 124,382,142 (GRCm39) |
S180P |
probably benign |
Het |
Phf14 |
G |
C |
6: 11,992,061 (GRCm39) |
G746R |
probably damaging |
Het |
Pkm |
T |
A |
9: 59,575,914 (GRCm39) |
V110E |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,472,483 (GRCm39) |
V1076I |
probably benign |
Het |
Polq |
C |
A |
16: 36,882,181 (GRCm39) |
D1448E |
probably damaging |
Het |
Pot1b |
T |
C |
17: 55,994,895 (GRCm39) |
T256A |
probably benign |
Het |
Prkch |
C |
T |
12: 73,749,538 (GRCm39) |
T377I |
possibly damaging |
Het |
Prl3c1 |
A |
C |
13: 27,383,168 (GRCm39) |
|
probably benign |
Het |
Prl7b1 |
A |
C |
13: 27,786,755 (GRCm39) |
V158G |
possibly damaging |
Het |
Prss22 |
T |
C |
17: 24,212,955 (GRCm39) |
S261G |
probably damaging |
Het |
Psd |
T |
C |
19: 46,309,541 (GRCm39) |
|
probably benign |
Het |
Psg18 |
A |
T |
7: 18,087,302 (GRCm39) |
Y119N |
probably damaging |
Het |
Rbm6 |
T |
G |
9: 107,729,993 (GRCm39) |
R218S |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,325,568 (GRCm39) |
S1491T |
|
Het |
Rsf1 |
T |
C |
7: 97,311,132 (GRCm39) |
S621P |
|
Het |
Runx1 |
C |
A |
16: 92,402,544 (GRCm39) |
*466L |
probably null |
Het |
Samd4 |
A |
G |
14: 47,254,135 (GRCm39) |
I200V |
probably benign |
Het |
Sdsl |
C |
T |
5: 120,597,584 (GRCm39) |
C241Y |
probably benign |
Het |
Selenon |
T |
C |
4: 134,278,725 (GRCm39) |
|
probably benign |
Het |
Setx |
C |
T |
2: 29,035,702 (GRCm39) |
P729L |
possibly damaging |
Het |
Sf1 |
C |
T |
19: 6,418,396 (GRCm39) |
Q55* |
probably null |
Het |
Slc12a5 |
A |
T |
2: 164,835,611 (GRCm39) |
N833I |
probably damaging |
Het |
Slc1a4 |
T |
C |
11: 20,282,286 (GRCm39) |
R63G |
probably damaging |
Het |
Tmeff2 |
G |
T |
1: 51,220,996 (GRCm39) |
A324S |
probably benign |
Het |
Tmem217 |
A |
G |
17: 29,745,466 (GRCm39) |
I88T |
possibly damaging |
Het |
Tnfsf8 |
A |
T |
4: 63,779,115 (GRCm39) |
I61N |
probably benign |
Het |
Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
Trhde |
T |
A |
10: 114,322,911 (GRCm39) |
E667V |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,263,568 (GRCm39) |
T1598A |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,507,510 (GRCm39) |
C601S |
probably benign |
Het |
Zfp873 |
C |
A |
10: 81,896,713 (GRCm39) |
H481Q |
probably damaging |
Het |
|
Other mutations in Plekha6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:Plekha6
|
APN |
1 |
133,209,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01328:Plekha6
|
APN |
1 |
133,200,074 (GRCm39) |
splice site |
probably null |
|
IGL01739:Plekha6
|
APN |
1 |
133,187,869 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01803:Plekha6
|
APN |
1 |
133,200,152 (GRCm39) |
nonsense |
probably null |
|
IGL02053:Plekha6
|
APN |
1 |
133,200,230 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02269:Plekha6
|
APN |
1 |
133,215,587 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02276:Plekha6
|
APN |
1 |
133,221,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02478:Plekha6
|
APN |
1 |
133,211,031 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02754:Plekha6
|
APN |
1 |
133,212,676 (GRCm39) |
missense |
probably damaging |
0.98 |
G1Funyon:Plekha6
|
UTSW |
1 |
133,192,425 (GRCm39) |
missense |
probably damaging |
0.96 |
R0100:Plekha6
|
UTSW |
1 |
133,197,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R0334:Plekha6
|
UTSW |
1 |
133,209,918 (GRCm39) |
missense |
probably benign |
0.24 |
R0470:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
probably benign |
0.07 |
R1016:Plekha6
|
UTSW |
1 |
133,187,832 (GRCm39) |
missense |
probably benign |
0.00 |
R1254:Plekha6
|
UTSW |
1 |
133,200,327 (GRCm39) |
missense |
probably benign |
0.10 |
R1728:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1729:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1730:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1739:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1762:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1771:Plekha6
|
UTSW |
1 |
133,201,651 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1784:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1785:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1786:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R1997:Plekha6
|
UTSW |
1 |
133,191,556 (GRCm39) |
missense |
probably benign |
0.43 |
R2020:Plekha6
|
UTSW |
1 |
133,212,708 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2130:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R2131:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R2133:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R2992:Plekha6
|
UTSW |
1 |
133,222,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R3781:Plekha6
|
UTSW |
1 |
133,222,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R3810:Plekha6
|
UTSW |
1 |
133,201,717 (GRCm39) |
missense |
probably benign |
|
R4067:Plekha6
|
UTSW |
1 |
133,222,416 (GRCm39) |
missense |
probably benign |
0.40 |
R4725:Plekha6
|
UTSW |
1 |
133,211,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5657:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5658:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5746:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5768:Plekha6
|
UTSW |
1 |
133,208,116 (GRCm39) |
missense |
probably benign |
0.01 |
R5785:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5892:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5937:Plekha6
|
UTSW |
1 |
133,187,839 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5985:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5986:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6053:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6072:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6167:Plekha6
|
UTSW |
1 |
133,207,145 (GRCm39) |
missense |
probably null |
0.96 |
R6843:Plekha6
|
UTSW |
1 |
133,202,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Plekha6
|
UTSW |
1 |
133,187,793 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6912:Plekha6
|
UTSW |
1 |
133,200,273 (GRCm39) |
missense |
probably benign |
0.02 |
R6970:Plekha6
|
UTSW |
1 |
133,191,556 (GRCm39) |
missense |
probably benign |
0.43 |
R7041:Plekha6
|
UTSW |
1 |
133,200,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7248:Plekha6
|
UTSW |
1 |
133,203,586 (GRCm39) |
nonsense |
probably null |
|
R7400:Plekha6
|
UTSW |
1 |
133,201,762 (GRCm39) |
nonsense |
probably null |
|
R7720:Plekha6
|
UTSW |
1 |
133,221,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Plekha6
|
UTSW |
1 |
133,097,760 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8011:Plekha6
|
UTSW |
1 |
133,191,544 (GRCm39) |
missense |
probably benign |
|
R8387:Plekha6
|
UTSW |
1 |
133,219,893 (GRCm39) |
splice site |
probably null |
|
R8465:Plekha6
|
UTSW |
1 |
133,197,778 (GRCm39) |
missense |
probably damaging |
0.98 |
R8501:Plekha6
|
UTSW |
1 |
133,215,575 (GRCm39) |
missense |
probably benign |
0.34 |
R9025:Plekha6
|
UTSW |
1 |
133,212,999 (GRCm39) |
missense |
probably benign |
0.01 |
R9044:Plekha6
|
UTSW |
1 |
133,201,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9044:Plekha6
|
UTSW |
1 |
133,201,687 (GRCm39) |
missense |
probably benign |
0.01 |
R9165:Plekha6
|
UTSW |
1 |
133,200,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R9179:Plekha6
|
UTSW |
1 |
133,214,085 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9186:Plekha6
|
UTSW |
1 |
133,220,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R9188:Plekha6
|
UTSW |
1 |
133,220,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R9321:Plekha6
|
UTSW |
1 |
133,209,549 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Plekha6
|
UTSW |
1 |
133,200,209 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Plekha6
|
UTSW |
1 |
133,191,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCTCAAGGGAGTTGGCTG -3'
(R):5'- TGAATAGGTCTGAGACTGAGCTG -3'
Sequencing Primer
(F):5'- TTGGCTGCCACGTGCTAG -3'
(R):5'- TGAGACTGAGCTGACAACCCATTG -3'
|
Posted On |
2020-07-28 |