Incidental Mutation 'R6970:Plekha6'
ID |
542149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
045080-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R6970 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 133191556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 146
(A146T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038295
AA Change: A42T
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: A42T
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: A42T
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757 AA Change: A42T
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: A42T
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757 AA Change: A42T
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: ENSMUST00000187285
AA Change: A42T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757 AA Change: A42T
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 |
noncoding transcript
Transcript: ENSMUST00000191207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212142
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212252
AA Change: A146T
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
C |
7: 131,036,044 (GRCm39) |
Y285H |
possibly damaging |
Het |
Adam17 |
A |
G |
12: 21,395,669 (GRCm39) |
S285P |
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,384,485 (GRCm39) |
N1082S |
probably benign |
Het |
Ahdc1 |
T |
A |
4: 132,789,656 (GRCm39) |
L299Q |
possibly damaging |
Het |
Ambra1 |
T |
A |
2: 91,602,945 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,895,805 (GRCm39) |
V543A |
probably damaging |
Het |
BC034090 |
T |
A |
1: 155,117,185 (GRCm39) |
D311V |
probably damaging |
Het |
Blnk |
G |
T |
19: 40,950,821 (GRCm39) |
P110Q |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,875,927 (GRCm39) |
E968G |
probably damaging |
Het |
Ccdc14 |
A |
T |
16: 34,529,903 (GRCm39) |
E394V |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,491,954 (GRCm39) |
H1086Q |
probably benign |
Het |
Ccdc85b |
T |
A |
19: 5,507,248 (GRCm39) |
I60F |
probably damaging |
Het |
Ceacam20 |
T |
A |
7: 19,723,902 (GRCm39) |
L562Q |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,008,149 (GRCm39) |
F188L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,217,032 (GRCm39) |
V750A |
probably benign |
Het |
Dclk1 |
A |
T |
3: 55,374,022 (GRCm39) |
|
probably benign |
Het |
Ddx20 |
A |
T |
3: 105,587,674 (GRCm39) |
L434H |
probably damaging |
Het |
Ddx51 |
G |
A |
5: 110,804,728 (GRCm39) |
V547M |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 118,072,679 (GRCm39) |
Q1472L |
probably benign |
Het |
Dnajb13 |
T |
C |
7: 100,156,629 (GRCm39) |
E149G |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,667,182 (GRCm39) |
E1422G |
probably benign |
Het |
Eif1ad8 |
G |
T |
12: 87,563,388 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,035,924 (GRCm39) |
N3192S |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,050,120 (GRCm39) |
D3994V |
probably damaging |
Het |
Fcgr1 |
C |
A |
3: 96,191,936 (GRCm39) |
|
probably null |
Het |
Gm12185 |
G |
A |
11: 48,798,739 (GRCm39) |
R585* |
probably null |
Het |
Gm32687 |
A |
G |
10: 81,715,304 (GRCm39) |
H232R |
probably benign |
Het |
Gm5431 |
G |
T |
11: 48,779,317 (GRCm39) |
A535D |
probably damaging |
Het |
Jarid2 |
C |
T |
13: 45,056,461 (GRCm39) |
P556S |
probably damaging |
Het |
Map3k4 |
C |
A |
17: 12,467,803 (GRCm39) |
G1077V |
probably damaging |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,583,735 (GRCm39) |
T433A |
possibly damaging |
Het |
Ms4a20 |
A |
G |
19: 11,089,678 (GRCm39) |
|
probably null |
Het |
Mus81 |
G |
T |
19: 5,535,554 (GRCm39) |
H199Q |
probably benign |
Het |
Mylk3 |
G |
A |
8: 86,085,892 (GRCm39) |
T54M |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,551,506 (GRCm39) |
F1034L |
possibly damaging |
Het |
Nfatc1 |
A |
C |
18: 80,710,228 (GRCm39) |
S513A |
probably benign |
Het |
Ninj2 |
A |
G |
6: 120,175,092 (GRCm39) |
I88V |
possibly damaging |
Het |
Nomo1 |
C |
T |
7: 45,695,391 (GRCm39) |
P277L |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,941,810 (GRCm39) |
S571L |
probably damaging |
Het |
Or10g9b |
T |
A |
9: 39,918,009 (GRCm39) |
M79L |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
Or9a7 |
T |
C |
6: 40,521,590 (GRCm39) |
S108G |
probably benign |
Het |
Pcdh15 |
C |
T |
10: 74,338,519 (GRCm39) |
P1005S |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,375,070 (GRCm39) |
A942T |
possibly damaging |
Het |
Plagl1 |
T |
C |
10: 13,000,860 (GRCm39) |
C34R |
probably damaging |
Het |
Plekha2 |
T |
C |
8: 25,549,280 (GRCm39) |
Q168R |
probably benign |
Het |
Plekhm3 |
T |
G |
1: 64,931,912 (GRCm39) |
K564T |
possibly damaging |
Het |
Plpp2 |
A |
G |
10: 79,366,380 (GRCm39) |
V26A |
possibly damaging |
Het |
Prdm10 |
T |
G |
9: 31,241,119 (GRCm39) |
Y302* |
probably null |
Het |
Prdm8 |
A |
G |
5: 98,332,471 (GRCm39) |
E124G |
probably damaging |
Het |
Prg4 |
T |
G |
1: 150,331,657 (GRCm39) |
|
probably benign |
Het |
Qser1 |
A |
G |
2: 104,618,475 (GRCm39) |
V779A |
probably benign |
Het |
Rbm39 |
G |
A |
2: 156,009,504 (GRCm39) |
R123C |
probably damaging |
Het |
Ric1 |
C |
T |
19: 29,565,172 (GRCm39) |
P640S |
probably damaging |
Het |
Rpl14 |
G |
A |
9: 120,403,293 (GRCm39) |
|
probably benign |
Het |
Rsl1d1 |
T |
A |
16: 11,011,558 (GRCm39) |
D382V |
probably benign |
Het |
Rubcn |
G |
T |
16: 32,688,514 (GRCm39) |
|
probably benign |
Het |
Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
Slc26a11 |
T |
G |
11: 119,247,798 (GRCm39) |
V41G |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,151,960 (GRCm39) |
F172L |
possibly damaging |
Het |
Slc4a4 |
A |
C |
5: 89,327,690 (GRCm39) |
Y674S |
probably damaging |
Het |
Spata31e3 |
A |
T |
13: 50,401,007 (GRCm39) |
Y440N |
possibly damaging |
Het |
Strc |
A |
C |
2: 121,208,495 (GRCm39) |
M292R |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,694,381 (GRCm39) |
T210A |
probably benign |
Het |
Tcf7l2 |
C |
A |
19: 55,743,480 (GRCm39) |
A97E |
probably benign |
Het |
Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
Tepsin |
G |
A |
11: 119,986,190 (GRCm39) |
T168M |
probably damaging |
Het |
Tex15 |
A |
T |
8: 34,047,456 (GRCm39) |
M178L |
probably benign |
Het |
Tgfbr2 |
T |
C |
9: 115,939,119 (GRCm39) |
N236S |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,713,744 (GRCm39) |
V2531A |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,725,767 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
G |
T |
8: 12,687,000 (GRCm39) |
D630E |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,133,839 (GRCm39) |
W745* |
probably null |
Het |
Vmn2r115 |
G |
A |
17: 23,564,989 (GRCm39) |
G292D |
probably benign |
Het |
Vmn2r38 |
T |
A |
7: 9,078,340 (GRCm39) |
K681* |
probably null |
Het |
Xrcc6 |
A |
G |
15: 81,915,375 (GRCm39) |
K98E |
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,530,407 (GRCm39) |
V13A |
probably benign |
Het |
Zfp512b |
A |
G |
2: 181,228,141 (GRCm39) |
I5T |
possibly damaging |
Het |
Zmynd8 |
C |
T |
2: 165,717,670 (GRCm39) |
E14K |
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 |
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 |
|
R8301:Plekha6
|
UTSW |
1 |
133,192,425 (GRCm39) |
missense |
probably damaging |
0.96 |
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'- ACGCCTTTGAGTTAGCAGAG -3'
(R):5'- TTGGAAGACATTCATAGACAACAGG -3'
Sequencing Primer
(F):5'- CCTTTGAGTTAGCAGAGACTCAAAGC -3'
(R):5'- AACCTACCAAAGAGTGCTTGG -3'
|
Posted On |
2018-11-28 |