Incidental Mutation 'R7248:Plekha6'
| ID |
563656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha6
|
| Ensembl Gene |
ENSMUSG00000041757 |
| Gene Name |
pleckstrin homology domain containing, family A member 6 |
| Synonyms |
Pepp3 |
| MMRRC Submission |
045311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R7248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 133203586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 550
(E550*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
| AlphaFold |
Q7TQG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038295
AA Change: E550*
|
| SMART Domains |
Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: E550*
| 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 null
Transcript: ENSMUST00000187299
AA Change: E84*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212252
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
97% (75/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,207,959 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,439,907 (GRCm39) |
|
probably null |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,194 (GRCm39) |
T452A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,947,293 (GRCm39) |
E1119K |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,922,714 (GRCm39) |
E39D |
possibly damaging |
Het |
| Bud13 |
G |
T |
9: 46,194,413 (GRCm39) |
E29* |
probably null |
Het |
| Ccdc150 |
C |
T |
1: 54,344,057 (GRCm39) |
T530I |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,803,199 (GRCm39) |
Q2160* |
probably null |
Het |
| Cluap1 |
T |
A |
16: 3,737,364 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cnot2 |
T |
C |
10: 116,334,278 (GRCm39) |
N329S |
probably benign |
Het |
| Cog4 |
A |
T |
8: 111,608,834 (GRCm39) |
T175S |
unknown |
Het |
| Coq7 |
C |
A |
7: 118,128,897 (GRCm39) |
R46L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,145,198 (GRCm39) |
V1276E |
probably damaging |
Het |
| Dcaf15 |
A |
G |
8: 84,829,394 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,198 (GRCm39) |
V417I |
probably benign |
Het |
| Defa25 |
G |
A |
8: 21,575,216 (GRCm39) |
C65Y |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,559 (GRCm39) |
T425A |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 38,022,829 (GRCm39) |
T782A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,181,245 (GRCm39) |
M1044K |
possibly damaging |
Het |
| Dusp16 |
G |
A |
6: 134,695,940 (GRCm39) |
T297M |
probably benign |
Het |
| Esyt2 |
A |
G |
12: 116,305,858 (GRCm39) |
N363D |
probably damaging |
Het |
| Fasl |
C |
T |
1: 161,615,760 (GRCm39) |
C32Y |
possibly damaging |
Het |
| Flg |
T |
C |
3: 93,189,041 (GRCm39) |
V137A |
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,080,086 (GRCm39) |
T224S |
probably benign |
Het |
| Gpr150 |
G |
A |
13: 76,204,126 (GRCm39) |
A273V |
probably benign |
Het |
| Grk5 |
A |
G |
19: 60,879,045 (GRCm39) |
T10A |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,006,909 (GRCm39) |
K1169R |
possibly damaging |
Het |
| Ido2 |
A |
C |
8: 25,030,657 (GRCm39) |
Y224* |
probably null |
Het |
| Ido2 |
A |
G |
8: 25,038,839 (GRCm39) |
I149T |
probably damaging |
Het |
| Iqca1l |
C |
T |
5: 24,749,269 (GRCm39) |
S743N |
probably benign |
Het |
| Kctd2 |
A |
G |
11: 115,312,845 (GRCm39) |
T126A |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,600,886 (GRCm39) |
S228P |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,969,305 (GRCm39) |
D1090G |
probably benign |
Het |
| Klrb1a |
A |
T |
6: 128,586,697 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Kndc1 |
A |
C |
7: 139,500,699 (GRCm39) |
H688P |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,059,611 (GRCm39) |
V141F |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 16,106,722 (GRCm39) |
I1845V |
unknown |
Het |
| Mob3c |
G |
A |
4: 115,688,881 (GRCm39) |
R138H |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,723,209 (GRCm39) |
D394E |
possibly damaging |
Het |
| Myh7b |
A |
T |
2: 155,464,106 (GRCm39) |
I536F |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,548,589 (GRCm39) |
K1382* |
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,598 (GRCm39) |
K128R |
possibly damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,520 (GRCm39) |
N303D |
probably damaging |
Het |
| Ostn |
T |
A |
16: 27,165,719 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
G |
A |
19: 5,189,003 (GRCm39) |
T793I |
probably damaging |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,547 (GRCm39) |
S507P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,152,597 (GRCm39) |
K393E |
possibly damaging |
Het |
| Pfkl |
T |
A |
10: 77,825,423 (GRCm39) |
N656Y |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,135,331 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
A |
T |
6: 32,139,095 (GRCm39) |
V1691E |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,472,123 (GRCm39) |
H1006Q |
probably damaging |
Het |
| Rfx4 |
C |
T |
10: 84,740,919 (GRCm39) |
P679L |
probably benign |
Het |
| Ripor2 |
A |
G |
13: 24,878,128 (GRCm39) |
H301R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,871,877 (GRCm39) |
I469N |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,161,559 (GRCm39) |
T211A |
probably benign |
Het |
| Sf1 |
A |
T |
19: 6,426,383 (GRCm39) |
H547L |
unknown |
Het |
| Slc29a1 |
T |
C |
17: 45,903,108 (GRCm39) |
D9G |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,892,311 (GRCm39) |
M1075K |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,176,741 (GRCm39) |
D474G |
probably damaging |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,087,870 (GRCm39) |
T1148A |
probably benign |
Het |
| Tmem116 |
A |
T |
5: 121,601,899 (GRCm39) |
|
probably null |
Het |
| Tmem158 |
A |
T |
9: 123,089,390 (GRCm39) |
I74N |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,743,432 (GRCm39) |
D174V |
probably benign |
Het |
| Trim65 |
A |
T |
11: 116,018,534 (GRCm39) |
I247N |
probably benign |
Het |
| Tsfm |
A |
T |
10: 126,847,500 (GRCm39) |
V197E |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,604,562 (GRCm39) |
C539R |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,655,406 (GRCm39) |
F1874Y |
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,453,238 (GRCm39) |
M215T |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,655,988 (GRCm39) |
D112G |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,911 (GRCm39) |
D83N |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,931 (GRCm39) |
V358E |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,672,489 (GRCm39) |
C29* |
probably null |
Het |
| Zng1 |
A |
G |
19: 24,898,505 (GRCm39) |
S318P |
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 |
|
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'- ATCAGATTTGCAGGGTGGGAC -3'
(R):5'- TTTCCTGAGGACAACCCCAG -3'
Sequencing Primer
(F):5'- GGTAACAGAACTGGGAGAATTCC -3'
(R):5'- GAGGACAACCCCAGCTGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation