Incidental Mutation 'R6053:Plekha6'
ID |
484208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
044221-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R6053 (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 C
at 133200045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Proline
at position 208
(R208P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038295
AA Change: R208P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: R208P
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 |
possibly damaging
Transcript: ENSMUST00000105082
AA Change: R228P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757 AA Change: R228P
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 |
possibly damaging
Transcript: ENSMUST00000186917
AA Change: R228P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757 AA Change: R228P
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 |
possibly damaging
Transcript: ENSMUST00000187285
AA Change: R208P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757 AA Change: R208P
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 |
unknown
Transcript: ENSMUST00000190186
AA Change: R30P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190694
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191207
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212142
|
Meta Mutation Damage Score |
0.0950 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,964,666 (GRCm39) |
Y2158H |
probably damaging |
Het |
Acap1 |
T |
G |
11: 69,777,896 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
A |
1: 171,080,284 (GRCm39) |
I279N |
possibly damaging |
Het |
Akap3 |
A |
G |
6: 126,843,496 (GRCm39) |
E705G |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,965,422 (GRCm39) |
T477A |
probably benign |
Het |
Arap3 |
C |
A |
18: 38,123,824 (GRCm39) |
L398F |
probably damaging |
Het |
Catsperg1 |
A |
T |
7: 28,910,239 (GRCm39) |
L34* |
probably null |
Het |
Ccdc171 |
T |
G |
4: 83,713,456 (GRCm39) |
L1165R |
probably damaging |
Het |
Ccdc3 |
G |
A |
2: 5,233,838 (GRCm39) |
V221I |
probably benign |
Het |
Cdc42ep4 |
T |
A |
11: 113,619,812 (GRCm39) |
H193L |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,277,208 (GRCm39) |
W361* |
probably null |
Het |
Cntn2 |
T |
C |
1: 132,446,090 (GRCm39) |
N832S |
probably benign |
Het |
Col5a1 |
A |
T |
2: 27,904,389 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,217,945 (GRCm39) |
D785G |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,457,260 (GRCm39) |
P1102Q |
possibly damaging |
Het |
Ctc1 |
T |
A |
11: 68,918,727 (GRCm39) |
M550K |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,532,952 (GRCm39) |
R273G |
probably damaging |
Het |
Dnajb7 |
T |
C |
15: 81,291,500 (GRCm39) |
E279G |
probably benign |
Het |
Dop1a |
G |
T |
9: 86,397,347 (GRCm39) |
G882W |
possibly damaging |
Het |
Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
Ect2l |
A |
T |
10: 18,017,592 (GRCm39) |
L629Q |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,533,024 (GRCm39) |
D497G |
possibly damaging |
Het |
Ep400 |
T |
C |
5: 110,903,661 (GRCm39) |
M313V |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,437,323 (GRCm39) |
Y83C |
probably damaging |
Het |
Ercc3 |
T |
G |
18: 32,379,807 (GRCm39) |
V338G |
probably damaging |
Het |
Fkbp5 |
T |
C |
17: 28,647,440 (GRCm39) |
I132V |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,638,449 (GRCm39) |
Y1846N |
probably damaging |
Het |
Foxg1 |
T |
C |
12: 49,432,161 (GRCm39) |
L298P |
possibly damaging |
Het |
Foxo3 |
G |
A |
10: 42,073,210 (GRCm39) |
P436S |
probably benign |
Het |
Gbx2 |
T |
C |
1: 89,858,159 (GRCm39) |
T107A |
probably benign |
Het |
Gli1 |
G |
T |
10: 127,170,184 (GRCm39) |
H324N |
probably damaging |
Het |
Gnas |
T |
A |
2: 174,141,645 (GRCm39) |
S605T |
possibly damaging |
Het |
Ica1 |
C |
T |
6: 8,630,783 (GRCm39) |
A431T |
probably benign |
Het |
Il10ra |
C |
T |
9: 45,167,601 (GRCm39) |
D319N |
probably damaging |
Het |
Jmjd4 |
T |
A |
11: 59,344,870 (GRCm39) |
H274Q |
probably damaging |
Het |
Krt28 |
C |
A |
11: 99,262,027 (GRCm39) |
L294F |
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,802,122 (GRCm39) |
T766K |
probably damaging |
Het |
Man2b2 |
C |
A |
5: 36,970,382 (GRCm39) |
M841I |
probably benign |
Het |
Mmp14 |
T |
A |
14: 54,673,347 (GRCm39) |
M85K |
probably benign |
Het |
Mmp1b |
T |
A |
9: 7,385,031 (GRCm39) |
D206V |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,445 (GRCm39) |
F3797S |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,842,697 (GRCm39) |
D561G |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,709,002 (GRCm39) |
H471Q |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,300,251 (GRCm39) |
E873G |
probably damaging |
Het |
Ngfr |
G |
A |
11: 95,461,832 (GRCm39) |
H361Y |
possibly damaging |
Het |
Nnt |
T |
C |
13: 119,494,045 (GRCm39) |
T679A |
possibly damaging |
Het |
Notch1 |
A |
T |
2: 26,362,924 (GRCm39) |
N947K |
probably benign |
Het |
Nrg4 |
A |
T |
9: 55,143,774 (GRCm39) |
V94D |
probably benign |
Het |
Nsd1 |
G |
T |
13: 55,441,422 (GRCm39) |
C1631F |
probably damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,435 (GRCm39) |
T827A |
probably benign |
Het |
Or2t47 |
T |
A |
11: 58,442,892 (GRCm39) |
M58L |
possibly damaging |
Het |
Or4c114 |
T |
C |
2: 88,904,898 (GRCm39) |
D179G |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,351 (GRCm39) |
Y250N |
probably damaging |
Het |
Or6p1 |
C |
A |
1: 174,258,135 (GRCm39) |
S47* |
probably null |
Het |
Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
Orai3 |
C |
T |
7: 127,373,050 (GRCm39) |
P184S |
probably benign |
Het |
Paqr3 |
A |
T |
5: 97,259,137 (GRCm39) |
S56T |
probably benign |
Het |
Pard6b |
C |
T |
2: 167,940,973 (GRCm39) |
T320M |
possibly damaging |
Het |
Pgs1 |
T |
C |
11: 117,892,535 (GRCm39) |
S166P |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,478,121 (GRCm39) |
T114A |
probably benign |
Het |
Plin4 |
A |
T |
17: 56,415,618 (GRCm39) |
D73E |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
Rbak |
A |
C |
5: 143,160,437 (GRCm39) |
Y205* |
probably null |
Het |
Rgs12 |
T |
C |
5: 35,123,296 (GRCm39) |
F360L |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,100,153 (GRCm39) |
D187E |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,072,871 (GRCm39) |
Q66* |
probably null |
Het |
Sh2d5 |
T |
A |
4: 137,982,873 (GRCm39) |
M85K |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,722,463 (GRCm39) |
V861A |
possibly damaging |
Het |
Stk11ip |
T |
A |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
Tmem26 |
G |
A |
10: 68,584,314 (GRCm39) |
E127K |
probably benign |
Het |
Tmem41a |
T |
G |
16: 21,753,739 (GRCm39) |
T211P |
possibly damaging |
Het |
Tmem69 |
T |
A |
4: 116,410,581 (GRCm39) |
M130L |
possibly damaging |
Het |
Trak2 |
C |
A |
1: 58,943,228 (GRCm39) |
R726L |
possibly damaging |
Het |
Vmn1r231 |
A |
G |
17: 21,110,081 (GRCm39) |
I278T |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,577,628 (GRCm39) |
V490I |
probably benign |
Het |
Wdr33 |
C |
T |
18: 32,011,116 (GRCm39) |
T255I |
possibly damaging |
Het |
Ylpm1 |
G |
T |
12: 85,043,277 (GRCm39) |
W5L |
possibly damaging |
Het |
Zfp169 |
A |
T |
13: 48,652,334 (GRCm39) |
W28R |
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 |
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'- ATTGGGTGTTATCCTGCCCC -3'
(R):5'- GGAGCTATACTGCCAGCCATTG -3'
Sequencing Primer
(F):5'- GGGTGTTATCCTGCCCCAGTTAC -3'
(R):5'- CCATTGGGCTGAGCAGG -3'
|
Posted On |
2017-07-14 |