Incidental Mutation 'R0334:Plekha6'
ID |
26081 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
038543-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R0334 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 133209918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 654
(A654S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038295
AA Change: A654S
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: A654S
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: A600S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757 AA Change: A600S
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: A600S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757 AA Change: A600S
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: A580S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757 AA Change: A580S
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 |
unknown
Transcript: ENSMUST00000189598
AA Change: A89S
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190186
AA Change: A431S
|
Meta Mutation Damage Score |
0.0674 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.6%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aggf1 |
T |
C |
13: 95,508,105 (GRCm39) |
N87S |
probably benign |
Het |
Ap2b1 |
T |
C |
11: 83,258,700 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,468,029 (GRCm39) |
Y1724H |
probably damaging |
Het |
Arhgef10l |
G |
A |
4: 140,311,237 (GRCm39) |
Q243* |
probably null |
Het |
Atp8a2 |
A |
T |
14: 59,928,961 (GRCm39) |
F1031Y |
probably damaging |
Het |
Bmp8b |
A |
G |
4: 123,008,553 (GRCm39) |
|
probably null |
Het |
Brinp2 |
G |
T |
1: 158,123,155 (GRCm39) |
T37K |
probably benign |
Het |
Bsph1 |
T |
A |
7: 13,184,864 (GRCm39) |
L9* |
probably null |
Het |
C6 |
T |
G |
15: 4,784,849 (GRCm39) |
N238K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,838,130 (GRCm39) |
D373G |
probably damaging |
Het |
Clec4a3 |
T |
C |
6: 122,946,329 (GRCm39) |
F191S |
possibly damaging |
Het |
Cpz |
A |
G |
5: 35,661,025 (GRCm39) |
V530A |
probably damaging |
Het |
Ctsc |
G |
T |
7: 87,927,550 (GRCm39) |
S47I |
possibly damaging |
Het |
Cyp7b1 |
T |
G |
3: 18,157,960 (GRCm39) |
Y53S |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Defb4 |
T |
C |
8: 19,251,220 (GRCm39) |
I29T |
probably benign |
Het |
Disc1 |
A |
T |
8: 125,987,836 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
G |
11: 69,327,662 (GRCm39) |
M3429T |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,472,213 (GRCm39) |
I3518N |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 31,090,325 (GRCm39) |
H4609L |
probably damaging |
Het |
Evi5 |
C |
A |
5: 107,968,401 (GRCm39) |
C182F |
probably damaging |
Het |
Fam149b |
G |
A |
14: 20,413,492 (GRCm39) |
R237H |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,440,536 (GRCm39) |
D174E |
possibly damaging |
Het |
Ghr |
T |
C |
15: 3,370,580 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Gpr176 |
T |
C |
2: 118,110,189 (GRCm39) |
S357G |
probably benign |
Het |
Grwd1 |
A |
T |
7: 45,476,601 (GRCm39) |
|
probably null |
Het |
H2-T24 |
A |
G |
17: 36,325,772 (GRCm39) |
V273A |
possibly damaging |
Het |
Hdac4 |
A |
C |
1: 91,883,760 (GRCm39) |
|
probably benign |
Het |
Herc3 |
A |
G |
6: 58,895,802 (GRCm39) |
T1017A |
probably damaging |
Het |
Hsd11b1 |
T |
C |
1: 192,924,476 (GRCm39) |
|
probably benign |
Het |
Igsf23 |
T |
C |
7: 19,675,678 (GRCm39) |
S143G |
probably benign |
Het |
Kbtbd12 |
T |
A |
6: 88,594,888 (GRCm39) |
Y314F |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,508 (GRCm39) |
|
probably null |
Het |
Kdm5b |
A |
G |
1: 134,532,260 (GRCm39) |
I479M |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,058,068 (GRCm39) |
T600A |
probably damaging |
Het |
Mrgprb2 |
A |
C |
7: 48,202,077 (GRCm39) |
I216S |
probably damaging |
Het |
Muc21 |
A |
G |
17: 35,933,614 (GRCm39) |
|
probably benign |
Het |
Myo1g |
A |
G |
11: 6,461,084 (GRCm39) |
|
probably benign |
Het |
Nrxn3 |
T |
C |
12: 89,780,412 (GRCm39) |
|
probably null |
Het |
Or2ag2 |
A |
G |
7: 106,485,622 (GRCm39) |
V134A |
probably benign |
Het |
Or8b54 |
A |
T |
9: 38,686,535 (GRCm39) |
|
probably null |
Het |
Or8g26 |
A |
G |
9: 39,095,980 (GRCm39) |
I169V |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,284,760 (GRCm39) |
S66T |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,062,206 (GRCm39) |
E2604G |
probably damaging |
Het |
Pnpla2 |
G |
A |
7: 141,039,433 (GRCm39) |
|
probably null |
Het |
Pramel19 |
T |
C |
4: 101,798,781 (GRCm39) |
F251L |
probably benign |
Het |
Prb1c |
T |
A |
6: 132,341,021 (GRCm39) |
Q17L |
unknown |
Het |
Prkdc |
A |
G |
16: 15,554,663 (GRCm39) |
D2128G |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,958,268 (GRCm39) |
L131Q |
probably damaging |
Het |
Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
Rnf139 |
A |
G |
15: 58,771,322 (GRCm39) |
Y449C |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,567,129 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,524,931 (GRCm39) |
V1058A |
possibly damaging |
Het |
Sema3a |
A |
T |
5: 13,607,268 (GRCm39) |
N321I |
probably damaging |
Het |
Slit3 |
T |
A |
11: 35,469,928 (GRCm39) |
V310E |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,918,256 (GRCm39) |
S627P |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,113,736 (GRCm39) |
F172I |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,352,923 (GRCm39) |
R788S |
unknown |
Het |
Tnks |
T |
A |
8: 35,320,413 (GRCm39) |
K753* |
probably null |
Het |
Trank1 |
T |
A |
9: 111,194,421 (GRCm39) |
V815D |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,222,008 (GRCm39) |
I2915N |
probably damaging |
Het |
Trpc6 |
T |
C |
9: 8,610,344 (GRCm39) |
S271P |
probably damaging |
Het |
Trpm5 |
T |
C |
7: 142,640,613 (GRCm39) |
Q213R |
probably benign |
Het |
Ulk3 |
C |
T |
9: 57,501,510 (GRCm39) |
|
probably benign |
Het |
Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
Wnt3a |
A |
G |
11: 59,147,144 (GRCm39) |
S181P |
probably damaging |
Het |
Yipf3 |
T |
C |
17: 46,559,238 (GRCm39) |
F22S |
possibly damaging |
Het |
Zbtb40 |
A |
T |
4: 136,713,867 (GRCm39) |
H1094Q |
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 |
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 |
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'- ACAAAGCTGGTGGGTCTTTGTCTTC -3'
(R):5'- ATGAGCATACTCGCTCGCTCTCTG -3'
Sequencing Primer
(F):5'- TGTCTCCCAGGGACAGTAATC -3'
(R):5'- CCACCCGGATGTTGATAAGT -3'
|
Posted On |
2013-04-16 |