Incidental Mutation 'R6843:Plekha6'
| ID |
534600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha6
|
| Ensembl Gene |
ENSMUSG00000041757 |
| Gene Name |
pleckstrin homology domain containing, family A member 6 |
| Synonyms |
Pepp3 |
| MMRRC Submission |
044949-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R6843 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133202616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 359
(M359K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
| AlphaFold |
Q7TQG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038295
AA Change: M537K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: M537K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
| 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: ENSMUST00000187299
AA Change: M71K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189598
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190186
AA Change: M359K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212252
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,615,360 (GRCm39) |
Q78L |
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,625,213 (GRCm39) |
H48R |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,784,460 (GRCm39) |
S1143T |
probably damaging |
Het |
| Apip |
T |
G |
2: 102,922,834 (GRCm39) |
F217L |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,695 (GRCm39) |
Y1525N |
probably damaging |
Het |
| Bcl2l13 |
G |
A |
6: 120,825,578 (GRCm39) |
|
probably null |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Clk4 |
T |
G |
11: 51,167,076 (GRCm39) |
|
probably null |
Het |
| Cnr2 |
C |
T |
4: 135,644,900 (GRCm39) |
P326L |
probably benign |
Het |
| Cryaa |
A |
G |
17: 31,897,147 (GRCm39) |
D58G |
possibly damaging |
Het |
| Crybg3 |
G |
A |
16: 59,380,159 (GRCm39) |
T365M |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,357,587 (GRCm39) |
N1683D |
probably benign |
Het |
| Dbx2 |
T |
G |
15: 95,552,340 (GRCm39) |
I102L |
possibly damaging |
Het |
| Dll4 |
A |
T |
2: 119,156,475 (GRCm39) |
|
probably benign |
Het |
| Epb42 |
T |
A |
2: 120,858,166 (GRCm39) |
Y264F |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,016,729 (GRCm39) |
H695L |
probably benign |
Het |
| Fhip1a |
G |
A |
3: 85,580,352 (GRCm39) |
P618S |
probably damaging |
Het |
| Ghsr |
A |
C |
3: 27,426,676 (GRCm39) |
D244A |
probably benign |
Het |
| Gm9195 |
A |
G |
14: 72,678,651 (GRCm39) |
Y2268H |
possibly damaging |
Het |
| Hdac1 |
A |
G |
4: 129,436,383 (GRCm39) |
Y14H |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,075,007 (GRCm39) |
Y282N |
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,539,896 (GRCm39) |
N285K |
probably benign |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,670 (GRCm39) |
F8S |
possibly damaging |
Het |
| Map2k1 |
A |
T |
9: 64,094,973 (GRCm39) |
D336E |
probably damaging |
Het |
| Map4k2 |
A |
T |
19: 6,403,477 (GRCm39) |
I796F |
probably damaging |
Het |
| Mapk13 |
T |
A |
17: 28,994,427 (GRCm39) |
|
probably null |
Het |
| Mprip |
A |
G |
11: 59,650,554 (GRCm39) |
I1419M |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,368,651 (GRCm39) |
E255G |
probably damaging |
Het |
| Oprl1 |
A |
G |
2: 181,357,547 (GRCm39) |
E11G |
probably damaging |
Het |
| Or1i2 |
T |
C |
10: 78,447,891 (GRCm39) |
N195D |
probably damaging |
Het |
| Or4f14 |
T |
C |
2: 111,743,260 (GRCm39) |
N5S |
probably damaging |
Het |
| Or52b3 |
A |
G |
7: 102,203,928 (GRCm39) |
I146V |
probably benign |
Het |
| Or5b99 |
G |
T |
19: 12,976,362 (GRCm39) |
C4F |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,048 (GRCm39) |
D17G |
possibly damaging |
Het |
| Palmd |
T |
A |
3: 116,717,864 (GRCm39) |
D211V |
probably damaging |
Het |
| Pcdhga11 |
A |
G |
18: 37,889,378 (GRCm39) |
N129D |
probably damaging |
Het |
| Plekha7 |
G |
T |
7: 115,742,555 (GRCm39) |
H756Q |
probably benign |
Het |
| Ppfibp2 |
C |
T |
7: 107,326,938 (GRCm39) |
P441S |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,467,978 (GRCm39) |
I1373T |
possibly damaging |
Het |
| Serpinb9g |
G |
T |
13: 33,676,900 (GRCm39) |
L227F |
probably damaging |
Het |
| Snapc4 |
C |
A |
2: 26,263,611 (GRCm39) |
A11S |
probably benign |
Het |
| Sqor |
T |
C |
2: 122,626,900 (GRCm39) |
V7A |
probably benign |
Het |
| Sqor |
G |
T |
2: 122,651,215 (GRCm39) |
G437V |
probably damaging |
Het |
| Srrm3 |
T |
C |
5: 135,881,135 (GRCm39) |
V145A |
probably benign |
Het |
| Stx1b |
G |
A |
7: 127,414,151 (GRCm39) |
Q72* |
probably null |
Het |
| Syt7 |
A |
G |
19: 10,399,135 (GRCm39) |
D77G |
probably damaging |
Het |
| Tvp23a |
G |
A |
16: 10,264,884 (GRCm39) |
A9V |
probably benign |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,692 (GRCm39) |
I114F |
probably damaging |
Het |
| Vmn2r80 |
C |
A |
10: 79,005,502 (GRCm39) |
Q380K |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,230,125 (GRCm39) |
E269K |
probably damaging |
Het |
| Zfp932 |
T |
C |
5: 110,156,581 (GRCm39) |
M92T |
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 |
|
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 |
|
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'- TACAGATGCCCTTAACCTTGAAC -3'
(R):5'- TGGTGAGAAGAGCTGCTCTG -3'
Sequencing Primer
(F):5'- CAGATGCCCTTAACCTTGAACTTTAG -3'
(R):5'- AAACTCTGTTCTGGGGCCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation