Incidental Mutation 'R9044:Plekha6'
| ID |
687896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha6
|
| Ensembl Gene |
ENSMUSG00000041757 |
| Gene Name |
pleckstrin homology domain containing, family A member 6 |
| Synonyms |
Pepp3 |
| MMRRC Submission |
068871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R9044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 133201687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 367
(P367A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
| AlphaFold |
Q7TQG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038295
AA Change: P367A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: P367A
| 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: P387A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: P387A
| 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: P387A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: P387A
| 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: P367A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: P367A
| 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 |
probably damaging
Transcript: ENSMUST00000190186
AA Change: P189A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212252
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,902,314 (GRCm39) |
Y667* |
probably null |
Het |
| Acacb |
A |
G |
5: 114,373,578 (GRCm39) |
H1869R |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,441,748 (GRCm39) |
T950A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,735 (GRCm39) |
L3110Q |
probably damaging |
Het |
| Ambra1 |
A |
T |
2: 91,740,434 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
A |
T |
17: 29,025,871 (GRCm39) |
N315Y |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,738,261 (GRCm39) |
D142G |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cyba |
T |
A |
8: 123,151,630 (GRCm39) |
D189V |
probably benign |
Het |
| Dexi |
A |
G |
16: 10,321,385 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,420,247 (GRCm39) |
V156I |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,077 (GRCm39) |
V420A |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,479,584 (GRCm39) |
V167E |
probably damaging |
Het |
| Eid2 |
T |
C |
7: 27,968,038 (GRCm39) |
I220T |
possibly damaging |
Het |
| Fggy |
A |
C |
4: 95,732,334 (GRCm39) |
T442P |
probably benign |
Het |
| Foxi3 |
T |
G |
6: 70,933,683 (GRCm39) |
S57A |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,186 (GRCm39) |
|
probably null |
Het |
| Galntl5 |
C |
T |
5: 25,415,326 (GRCm39) |
P286S |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,938,274 (GRCm39) |
K519E |
probably benign |
Het |
| Gse1 |
T |
A |
8: 120,957,269 (GRCm39) |
S587T |
unknown |
Het |
| Kcns1 |
G |
T |
2: 164,009,996 (GRCm39) |
F254L |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,840,781 (GRCm39) |
T23A |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,541,577 (GRCm39) |
Q1241R |
possibly damaging |
Het |
| Lck |
A |
T |
4: 129,450,098 (GRCm39) |
L205Q |
probably damaging |
Het |
| Map9 |
C |
T |
3: 82,287,525 (GRCm39) |
A420V |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,530,960 (GRCm39) |
D170E |
|
Het |
| Mllt6 |
T |
A |
11: 97,554,485 (GRCm39) |
C30S |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,411,795 (GRCm39) |
D1580E |
unknown |
Het |
| Oaf |
C |
T |
9: 43,135,308 (GRCm39) |
A157T |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,902,485 (GRCm39) |
|
probably benign |
Het |
| Or2ab1 |
T |
A |
11: 58,489,126 (GRCm39) |
N295K |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,128 (GRCm39) |
I8V |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,247 (GRCm39) |
Y641C |
probably damaging |
Het |
| Phf10 |
A |
T |
17: 15,166,584 (GRCm39) |
C429S |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,489,273 (GRCm39) |
I756K |
probably damaging |
Het |
| Plxnb2 |
C |
A |
15: 89,044,566 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,530,554 (GRCm39) |
M1014K |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,171,540 (GRCm39) |
D304G |
probably benign |
Het |
| Rcan2 |
C |
A |
17: 44,147,245 (GRCm39) |
L28I |
probably benign |
Het |
| Rffl |
C |
T |
11: 82,701,020 (GRCm39) |
V269I |
probably benign |
Het |
| Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
C |
T |
19: 29,577,294 (GRCm39) |
A1066V |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,752,989 (GRCm39) |
Y1777* |
probably null |
Het |
| Scart2 |
G |
T |
7: 139,828,010 (GRCm39) |
G73C |
probably damaging |
Het |
| Sh3tc1 |
T |
G |
5: 35,854,834 (GRCm39) |
K1288Q |
possibly damaging |
Het |
| Slc10a5 |
A |
C |
3: 10,399,792 (GRCm39) |
I289M |
probably damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,110,797 (GRCm39) |
T128A |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,333,632 (GRCm39) |
H373R |
probably benign |
Het |
| Spesp1 |
A |
G |
9: 62,180,623 (GRCm39) |
I95T |
probably benign |
Het |
| Sra1 |
C |
T |
18: 36,800,946 (GRCm39) |
V131I |
probably benign |
Het |
| Stxbp5l |
A |
G |
16: 37,024,930 (GRCm39) |
V556A |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 177,989,617 (GRCm39) |
E1414G |
probably damaging |
Het |
| Trac |
A |
T |
14: 54,458,148 (GRCm39) |
K57* |
probably null |
Het |
| Trps1 |
T |
C |
15: 50,686,003 (GRCm39) |
E724G |
probably benign |
Het |
| Tubgcp6 |
T |
G |
15: 88,987,397 (GRCm39) |
D1192A |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vps18 |
T |
G |
2: 119,128,034 (GRCm39) |
I952M |
probably damaging |
Het |
| Wdr36 |
T |
C |
18: 32,970,499 (GRCm39) |
F20S |
probably damaging |
Het |
| Wdr62 |
C |
A |
7: 29,962,062 (GRCm39) |
R450L |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,668,641 (GRCm39) |
K76E |
probably benign |
Het |
| Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
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 |
|
|
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 |
|
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'- CATGTACTCTGAGGACTTGGG -3'
(R):5'- CTCGTCATAAAAGACTGGCTGTC -3'
Sequencing Primer
(F):5'- GGGGTGGGGTGACTGGG -3'
(R):5'- GGGCTGGGGATCCAAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation