Incidental Mutation 'R6912:Plekha6'
ID |
539059 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
045004-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R6912 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 133200273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 284
(A284V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038295
AA Change: A284V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: A284V
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: A304V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757 AA Change: A304V
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: A304V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757 AA Change: A304V
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: A284V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757 AA Change: A284V
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 benign
Transcript: ENSMUST00000187299
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189598
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212252
|
Meta Mutation Damage Score |
0.0871 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
G |
A |
7: 43,150,571 (GRCm39) |
T67I |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,197,106 (GRCm39) |
M524K |
probably benign |
Het |
Aco2 |
G |
A |
15: 81,779,597 (GRCm39) |
V134I |
probably benign |
Het |
Acsf2 |
C |
T |
11: 94,461,206 (GRCm39) |
M323I |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,337,585 (GRCm39) |
D499G |
probably benign |
Het |
Armc5 |
G |
A |
7: 127,839,597 (GRCm39) |
C305Y |
probably damaging |
Het |
Astl |
T |
C |
2: 127,198,306 (GRCm39) |
I286T |
probably benign |
Het |
Atp8a2 |
G |
A |
14: 60,249,859 (GRCm39) |
S544L |
probably benign |
Het |
Bbs7 |
G |
T |
3: 36,659,853 (GRCm39) |
A194E |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,465,207 (GRCm39) |
D1657G |
probably damaging |
Het |
Cfap46 |
G |
A |
7: 139,219,616 (GRCm39) |
S1283L |
probably benign |
Het |
Creld2 |
T |
C |
15: 88,704,200 (GRCm39) |
S64P |
probably damaging |
Het |
Crtc1 |
T |
C |
8: 70,850,961 (GRCm39) |
E217G |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,675,320 (GRCm39) |
V345M |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,183,108 (GRCm39) |
M487V |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,600,036 (GRCm39) |
I3692T |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,577,748 (GRCm39) |
T3022S |
possibly damaging |
Het |
Dtnb |
A |
T |
12: 3,698,221 (GRCm39) |
|
probably null |
Het |
Erf |
T |
C |
7: 24,944,003 (GRCm39) |
T443A |
possibly damaging |
Het |
Ermp1 |
T |
A |
19: 29,594,011 (GRCm39) |
I720F |
probably benign |
Het |
Fam83b |
T |
A |
9: 76,398,214 (GRCm39) |
E963V |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,504,060 (GRCm39) |
S4463T |
probably benign |
Het |
Fbxw27 |
T |
A |
9: 109,617,148 (GRCm39) |
K118* |
probably null |
Het |
Fcgbp |
A |
T |
7: 27,789,129 (GRCm39) |
Y565F |
probably benign |
Het |
Garre1 |
A |
G |
7: 33,945,093 (GRCm39) |
S384P |
probably benign |
Het |
Gm128 |
A |
T |
3: 95,147,740 (GRCm39) |
S185T |
probably benign |
Het |
Gm6309 |
C |
T |
5: 146,105,640 (GRCm39) |
E175K |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gprin2 |
T |
C |
14: 33,916,597 (GRCm39) |
Y391C |
probably damaging |
Het |
Hexa |
T |
C |
9: 59,447,221 (GRCm39) |
L72P |
probably damaging |
Het |
Il31ra |
T |
A |
13: 112,685,998 (GRCm39) |
D124V |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,372,529 (GRCm39) |
A939T |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,542,019 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
A |
T |
7: 139,490,194 (GRCm39) |
D232V |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,348,369 (GRCm39) |
R2775S |
unknown |
Het |
Luc7l3 |
C |
T |
11: 94,200,462 (GRCm39) |
R52H |
probably damaging |
Het |
Mapk15 |
A |
T |
15: 75,865,747 (GRCm39) |
R13S |
probably damaging |
Het |
Mdga2 |
G |
T |
12: 66,552,889 (GRCm39) |
Q187K |
probably benign |
Het |
Mfsd2b |
G |
A |
12: 4,920,611 (GRCm39) |
Q69* |
probably null |
Het |
Mlph |
A |
T |
1: 90,873,342 (GRCm39) |
D551V |
probably damaging |
Het |
Mup5 |
A |
T |
4: 61,752,806 (GRCm39) |
F72L |
probably benign |
Het |
Narf |
T |
C |
11: 121,129,287 (GRCm39) |
S24P |
probably benign |
Het |
Ncapg2 |
A |
G |
12: 116,390,202 (GRCm39) |
I384V |
probably benign |
Het |
Neo1 |
T |
C |
9: 58,824,335 (GRCm39) |
T698A |
probably benign |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Nrros |
T |
C |
16: 31,981,057 (GRCm39) |
R24G |
probably null |
Het |
Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
Or6b1 |
T |
C |
6: 42,815,736 (GRCm39) |
V307A |
probably benign |
Het |
Pde9a |
T |
C |
17: 31,685,386 (GRCm39) |
S347P |
possibly damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,961,222 (GRCm39) |
D315G |
probably benign |
Het |
Plaat5 |
A |
G |
19: 7,616,830 (GRCm39) |
|
probably benign |
Het |
Plekhg2 |
A |
G |
7: 28,059,684 (GRCm39) |
V1215A |
probably benign |
Het |
Ppif |
C |
A |
14: 25,698,711 (GRCm39) |
A144E |
probably damaging |
Het |
Ppp1r10 |
T |
C |
17: 36,240,453 (GRCm39) |
V581A |
possibly damaging |
Het |
Prr12 |
A |
G |
7: 44,698,269 (GRCm39) |
|
probably benign |
Het |
Rfx6 |
T |
C |
10: 51,599,949 (GRCm39) |
V565A |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Saxo2 |
A |
G |
7: 82,284,402 (GRCm39) |
V152A |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,793,946 (GRCm39) |
D86G |
probably benign |
Het |
Shroom3 |
A |
T |
5: 93,090,876 (GRCm39) |
M1128L |
probably benign |
Het |
Smok2a |
C |
A |
17: 13,444,543 (GRCm39) |
T40K |
probably benign |
Het |
Tatdn1 |
C |
T |
15: 58,793,118 (GRCm39) |
|
probably null |
Het |
Tbc1d2 |
C |
A |
4: 46,649,712 (GRCm39) |
G108V |
probably damaging |
Het |
Tbck |
T |
C |
3: 132,392,703 (GRCm39) |
I48T |
possibly damaging |
Het |
Tm7sf3 |
A |
G |
6: 146,527,601 (GRCm39) |
F75S |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,440,719 (GRCm39) |
D245G |
probably benign |
Het |
Trim68 |
A |
T |
7: 102,333,675 (GRCm39) |
D2E |
probably damaging |
Het |
Trps1 |
T |
A |
15: 50,685,694 (GRCm39) |
Q157L |
possibly damaging |
Het |
Ttc22 |
A |
G |
4: 106,495,800 (GRCm39) |
T385A |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,946,155 (GRCm39) |
F150I |
possibly damaging |
Het |
Ube2u |
C |
T |
4: 100,389,352 (GRCm39) |
R105W |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,185,545 (GRCm39) |
|
probably null |
Het |
Unc5b |
A |
G |
10: 60,666,871 (GRCm39) |
L25P |
probably benign |
Het |
Usp38 |
A |
G |
8: 81,719,958 (GRCm39) |
S424P |
probably damaging |
Het |
Vmn1r222 |
T |
A |
13: 23,416,374 (GRCm39) |
S280C |
probably benign |
Het |
Vmn1r59 |
A |
T |
7: 5,457,599 (GRCm39) |
F54I |
probably benign |
Het |
Vmn2r-ps117 |
T |
A |
17: 19,047,464 (GRCm39) |
C536S |
probably damaging |
Het |
Zkscan2 |
A |
C |
7: 123,099,196 (GRCm39) |
|
probably benign |
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 |
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 |
|
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'- CTGAGAGGCCTGAAGTCAAG -3'
(R):5'- GAAGGTTCCCAATAAAGCCATGTC -3'
Sequencing Primer
(F):5'- TCAAGAAAGAGACTTTGGTAAAAGCC -3'
(R):5'- AAGCCATGTCTCTTAAGTTGGTCAC -3'
|
Posted On |
2018-11-06 |