Incidental Mutation 'R4725:Plekha6'
ID |
358378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
041960-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R4725 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 133211058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Tyrosine
at position 625
(S625Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038295
AA Change: S699Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: S699Y
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 damaging
Transcript: ENSMUST00000105082
AA Change: S645Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757 AA Change: S645Y
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 damaging
Transcript: ENSMUST00000186917
AA Change: S645Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757 AA Change: S645Y
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 damaging
Transcript: ENSMUST00000187285
AA Change: S625Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757 AA Change: S625Y
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: S134Y
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190186
AA Change: S476Y
|
Meta Mutation Damage Score |
0.1035 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (64/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5830454E08Rik |
T |
C |
9: 120,406,769 (GRCm39) |
|
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,249,643 (GRCm39) |
E458G |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,914,052 (GRCm39) |
I1220T |
possibly damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,617,445 (GRCm39) |
M459K |
probably benign |
Het |
Bmal1 |
C |
A |
7: 112,903,566 (GRCm39) |
P454Q |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,232,953 (GRCm39) |
V240A |
probably benign |
Het |
Ccdc88b |
C |
T |
19: 6,834,481 (GRCm39) |
G149R |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,494,602 (GRCm39) |
V870A |
probably benign |
Het |
Cep192 |
A |
C |
18: 67,949,837 (GRCm39) |
Q307P |
probably benign |
Het |
Cep63 |
T |
C |
9: 102,467,755 (GRCm39) |
|
probably benign |
Het |
Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
Ctdsp1 |
G |
A |
1: 74,433,823 (GRCm39) |
V135I |
possibly damaging |
Het |
Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,404,460 (GRCm39) |
D2694G |
probably damaging |
Het |
Dchs1 |
C |
G |
7: 105,414,759 (GRCm39) |
G761A |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,946,277 (GRCm39) |
Y445H |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,346,743 (GRCm39) |
L225* |
probably null |
Het |
Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
Dysf |
A |
T |
6: 84,074,738 (GRCm39) |
N527I |
probably damaging |
Het |
Erbb2 |
A |
G |
11: 98,315,970 (GRCm39) |
T358A |
possibly damaging |
Het |
Fhad1 |
A |
T |
4: 141,655,689 (GRCm39) |
|
probably null |
Het |
Ganc |
T |
C |
2: 120,265,754 (GRCm39) |
I434T |
probably damaging |
Het |
Gm5830 |
T |
A |
1: 78,945,549 (GRCm39) |
|
noncoding transcript |
Het |
Gm6096 |
G |
T |
7: 33,950,484 (GRCm39) |
E8* |
probably null |
Het |
Gne |
A |
G |
4: 44,066,806 (GRCm39) |
F63S |
probably benign |
Het |
Gpat2 |
T |
C |
2: 127,273,902 (GRCm39) |
V315A |
possibly damaging |
Het |
Gpr33 |
A |
G |
12: 52,070,892 (GRCm39) |
L49P |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,439,543 (GRCm39) |
Q1374* |
probably null |
Het |
Hivep1 |
A |
G |
13: 42,316,887 (GRCm39) |
I2032V |
probably benign |
Het |
Igkv2-112 |
A |
C |
6: 68,197,450 (GRCm39) |
I40L |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,221,294 (GRCm39) |
N204D |
probably benign |
Het |
Kcnj10 |
T |
A |
1: 172,196,726 (GRCm39) |
F80Y |
probably damaging |
Het |
Lcmt2 |
C |
G |
2: 120,969,911 (GRCm39) |
V171L |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,483,153 (GRCm39) |
Y1245N |
probably damaging |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Mast1 |
A |
G |
8: 85,655,635 (GRCm39) |
S170P |
possibly damaging |
Het |
Mroh4 |
A |
G |
15: 74,487,956 (GRCm39) |
L322P |
probably damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Nudcd3 |
A |
T |
11: 6,143,475 (GRCm39) |
V1D |
probably damaging |
Het |
Pah |
T |
A |
10: 87,390,238 (GRCm39) |
L25Q |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,243,596 (GRCm39) |
|
probably null |
Het |
Pira13 |
A |
C |
7: 3,824,547 (GRCm39) |
S611A |
probably benign |
Het |
Rtn4 |
T |
A |
11: 29,658,362 (GRCm39) |
S839T |
probably damaging |
Het |
Rusc1 |
A |
G |
3: 88,998,736 (GRCm39) |
S349P |
possibly damaging |
Het |
Samsn1 |
A |
T |
16: 75,742,217 (GRCm39) |
|
noncoding transcript |
Het |
Scimp |
A |
G |
11: 70,691,539 (GRCm39) |
V30A |
probably damaging |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,823,419 (GRCm39) |
D680G |
probably damaging |
Het |
Slc44a2 |
G |
A |
9: 21,259,691 (GRCm39) |
V613M |
probably damaging |
Het |
Smpdl3b |
T |
C |
4: 132,472,489 (GRCm39) |
T95A |
probably damaging |
Het |
Spag6l |
A |
T |
16: 16,610,395 (GRCm39) |
L85H |
probably damaging |
Het |
Sucla2 |
T |
A |
14: 73,806,429 (GRCm39) |
Y167N |
possibly damaging |
Het |
Svop |
G |
T |
5: 114,203,546 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
T |
17: 34,918,041 (GRCm39) |
D2318V |
probably damaging |
Het |
Trbv14 |
A |
G |
6: 41,112,332 (GRCm39) |
D43G |
probably benign |
Het |
Ubn2 |
A |
G |
6: 38,499,240 (GRCm39) |
|
probably benign |
Het |
Ufsp1 |
T |
C |
5: 137,293,569 (GRCm39) |
I173T |
probably damaging |
Het |
Zbtb40 |
A |
G |
4: 136,746,072 (GRCm39) |
|
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 |
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'- CCTTTGCAGCAGTAGAAGGG -3'
(R):5'- CTGTCTCAAGACCAGATCCTTGTC -3'
Sequencing Primer
(F):5'- GCATCTGCATTCAGGAATCAG -3'
(R):5'- CAAGACCAGATCCTTGTCTTATATTG -3'
|
Posted On |
2015-11-11 |