Incidental Mutation 'R2020:Plekha6'
ID |
223735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
040029-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R2020 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133212708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 671
(T671A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038295
AA Change: T745A
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: T745A
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: T691A
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757 AA Change: T691A
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: T691A
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757 AA Change: T691A
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: T671A
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757 AA Change: T671A
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: T522A
|
Meta Mutation Damage Score |
0.0880 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
99% (87/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012P17Rik |
C |
A |
1: 158,796,482 (GRCm39) |
|
noncoding transcript |
Het |
Adam17 |
G |
A |
12: 21,399,876 (GRCm39) |
R177C |
probably damaging |
Het |
Ak7 |
G |
A |
12: 105,711,591 (GRCm39) |
|
probably null |
Het |
Akap9 |
T |
C |
5: 4,011,967 (GRCm39) |
V890A |
probably damaging |
Het |
Alg6 |
A |
G |
4: 99,626,369 (GRCm39) |
N59S |
probably damaging |
Het |
Alkbh5 |
G |
T |
11: 60,429,375 (GRCm39) |
A43S |
probably benign |
Het |
Anxa2 |
C |
A |
9: 69,391,099 (GRCm39) |
D162E |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,050,725 (GRCm39) |
H1136R |
probably benign |
Het |
Arhgap18 |
A |
G |
10: 26,730,900 (GRCm39) |
R121G |
probably benign |
Het |
Arhgef4 |
A |
T |
1: 34,762,891 (GRCm39) |
T716S |
unknown |
Het |
Atg2a |
T |
C |
19: 6,300,299 (GRCm39) |
|
probably null |
Het |
Ccdc27 |
T |
C |
4: 154,117,770 (GRCm39) |
I480V |
probably null |
Het |
Cdipt |
T |
C |
7: 126,576,105 (GRCm39) |
V20A |
possibly damaging |
Het |
Cgrrf1 |
C |
T |
14: 47,067,902 (GRCm39) |
|
probably benign |
Het |
Chd7 |
G |
A |
4: 8,855,226 (GRCm39) |
V2152I |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,452,698 (GRCm39) |
S1274C |
probably damaging |
Het |
Chuk |
A |
T |
19: 44,095,782 (GRCm39) |
M17K |
possibly damaging |
Het |
Col14a1 |
C |
T |
15: 55,309,577 (GRCm39) |
|
probably benign |
Het |
Col20a1 |
G |
A |
2: 180,654,956 (GRCm39) |
|
probably null |
Het |
Cped1 |
A |
G |
6: 22,143,963 (GRCm39) |
I570V |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Ddx27 |
A |
C |
2: 166,875,691 (GRCm39) |
Q674P |
probably damaging |
Het |
Dennd6a |
T |
A |
14: 26,333,158 (GRCm39) |
F131L |
probably damaging |
Het |
Dhx38 |
G |
A |
8: 110,283,501 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
T |
2: 180,301,378 (GRCm39) |
N2175K |
unknown |
Het |
Dmxl1 |
T |
A |
18: 50,022,625 (GRCm39) |
Y1654* |
probably null |
Het |
Dock7 |
T |
A |
4: 98,847,338 (GRCm39) |
H1658L |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,162,925 (GRCm39) |
I555V |
probably benign |
Het |
Eif2ak2 |
T |
C |
17: 79,171,392 (GRCm39) |
E337G |
possibly damaging |
Het |
Fabp12 |
T |
A |
3: 10,315,209 (GRCm39) |
D46V |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,855,019 (GRCm39) |
S1882P |
probably benign |
Het |
Fech |
C |
T |
18: 64,611,798 (GRCm39) |
E79K |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,444,362 (GRCm39) |
I693F |
probably damaging |
Het |
Foxp2 |
G |
A |
6: 15,324,643 (GRCm39) |
C97Y |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,710,894 (GRCm39) |
M884T |
probably benign |
Het |
Gtf2ird1 |
T |
C |
5: 134,445,947 (GRCm39) |
D28G |
probably damaging |
Het |
Gtf3c4 |
C |
A |
2: 28,723,906 (GRCm39) |
G468W |
possibly damaging |
Het |
Ift172 |
A |
T |
5: 31,424,585 (GRCm39) |
L201* |
probably null |
Het |
Ift70a1 |
A |
G |
2: 75,811,279 (GRCm39) |
V268A |
probably benign |
Het |
Il1rl2 |
C |
A |
1: 40,404,374 (GRCm39) |
S498R |
probably damaging |
Het |
Ildr1 |
C |
T |
16: 36,545,903 (GRCm39) |
R489W |
probably damaging |
Het |
Itga10 |
G |
A |
3: 96,559,806 (GRCm39) |
G487D |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,448,640 (GRCm39) |
N128D |
probably benign |
Het |
Lgr6 |
G |
A |
1: 135,003,013 (GRCm39) |
T79M |
probably damaging |
Het |
Med6 |
T |
C |
12: 81,620,651 (GRCm39) |
T232A |
probably benign |
Het |
Mgat4e |
A |
G |
1: 134,469,060 (GRCm39) |
L328P |
probably damaging |
Het |
Mttp |
A |
G |
3: 137,824,163 (GRCm39) |
Y138H |
probably damaging |
Het |
Ngef |
T |
C |
1: 87,473,690 (GRCm39) |
R31G |
probably benign |
Het |
Nipsnap2 |
C |
A |
5: 129,830,287 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
G |
T |
11: 69,719,267 (GRCm39) |
N194K |
probably damaging |
Het |
Or1q1 |
G |
A |
2: 36,887,664 (GRCm39) |
V281M |
possibly damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
Or5b98 |
G |
A |
19: 12,931,696 (GRCm39) |
V248I |
possibly damaging |
Het |
Or5m13b |
A |
G |
2: 85,754,087 (GRCm39) |
I158M |
probably benign |
Het |
Or8c16 |
A |
G |
9: 38,130,728 (GRCm39) |
Y203C |
possibly damaging |
Het |
Pcca |
T |
A |
14: 123,050,634 (GRCm39) |
M101K |
possibly damaging |
Het |
Prex2 |
G |
A |
1: 11,232,536 (GRCm39) |
V868M |
probably damaging |
Het |
Prkcq |
G |
A |
2: 11,284,332 (GRCm39) |
V501I |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,168,595 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
G |
4: 76,051,398 (GRCm39) |
V41A |
probably damaging |
Het |
Rab39 |
C |
T |
9: 53,597,698 (GRCm39) |
G189E |
possibly damaging |
Het |
Ret |
T |
C |
6: 118,157,343 (GRCm39) |
K236E |
possibly damaging |
Het |
Rfx6 |
G |
A |
10: 51,596,153 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
G |
11: 119,352,744 (GRCm39) |
T3916A |
probably damaging |
Het |
Rpn1 |
A |
G |
6: 88,072,665 (GRCm39) |
N336S |
probably damaging |
Het |
Sag |
G |
A |
1: 87,733,037 (GRCm39) |
A2T |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,256,063 (GRCm39) |
Y197C |
probably damaging |
Het |
Sec23b |
T |
C |
2: 144,408,864 (GRCm39) |
I183T |
possibly damaging |
Het |
Sec24b |
C |
T |
3: 129,781,377 (GRCm39) |
V1166M |
probably damaging |
Het |
Slc27a5 |
A |
T |
7: 12,727,339 (GRCm39) |
F361Y |
probably damaging |
Het |
Spaca9 |
A |
G |
2: 28,586,013 (GRCm39) |
L17P |
probably damaging |
Het |
Sqor |
T |
C |
2: 122,646,027 (GRCm39) |
|
probably null |
Het |
Stx18 |
A |
G |
5: 38,292,588 (GRCm39) |
H230R |
probably damaging |
Het |
Tas2r130 |
A |
T |
6: 131,607,732 (GRCm39) |
I21N |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,570,658 (GRCm39) |
S365P |
possibly damaging |
Het |
Tinagl1 |
G |
A |
4: 130,060,765 (GRCm39) |
H351Y |
probably damaging |
Het |
Tmc2 |
T |
C |
2: 130,074,305 (GRCm39) |
Y333H |
probably damaging |
Het |
Trp53bp2 |
A |
T |
1: 182,270,384 (GRCm39) |
T395S |
probably damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,655,773 (GRCm39) |
S751P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,657,368 (GRCm39) |
|
probably benign |
Het |
Ugdh |
T |
C |
5: 65,574,268 (GRCm39) |
Y425C |
probably damaging |
Het |
Vmn1r115 |
G |
A |
7: 20,578,094 (GRCm39) |
L273F |
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,761,448 (GRCm39) |
C636* |
probably null |
Het |
Vmn2r59 |
A |
C |
7: 41,693,203 (GRCm39) |
Y466D |
probably damaging |
Het |
Zic5 |
C |
T |
14: 122,702,242 (GRCm39) |
G163D |
unknown |
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 |
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'- TACCCAGGAAGAGGATGTGC -3'
(R):5'- GCATACACACAGTCACAAGGGG -3'
Sequencing Primer
(F):5'- ATGTGCGGGCAGGAGCTC -3'
(R):5'- CCCTCCATGGCTTAGGGC -3'
|
Posted On |
2014-08-25 |