Incidental Mutation 'R5532:Plekhg6'
| ID |
436214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhg6
|
| Ensembl Gene |
ENSMUSG00000038167 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 6 |
| Synonyms |
LOC213522 |
| MMRRC Submission |
043090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5532 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125339623-125357756 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125349514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 361
(E361G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042647]
|
| AlphaFold |
Q8R0J1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042647
AA Change: E361G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: E361G
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
165 |
352 |
1.5e-44 |
SMART |
|
PH
|
410 |
511 |
8.99e-7 |
SMART |
|
low complexity region
|
535 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
731 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,293 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
G |
15: 80,848,110 (GRCm39) |
P118A |
probably damaging |
Het |
| Ano6 |
C |
T |
15: 95,860,122 (GRCm39) |
P748L |
probably damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,146,701 (GRCm39) |
N234K |
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,722,104 (GRCm39) |
I25K |
possibly damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,481 (GRCm39) |
Y345C |
probably damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,510,329 (GRCm39) |
V561A |
probably benign |
Het |
| Cenpv |
G |
A |
11: 62,418,398 (GRCm39) |
T185M |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,153,163 (GRCm39) |
D3683V |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,765 (GRCm39) |
D415G |
possibly damaging |
Het |
| Gatad2a |
G |
A |
8: 70,369,070 (GRCm39) |
T259M |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,827,648 (GRCm39) |
S5G |
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,466,542 (GRCm39) |
S125P |
probably damaging |
Het |
| Iigp1c |
A |
G |
18: 60,379,142 (GRCm39) |
I226V |
probably benign |
Het |
| Il12rb2 |
G |
A |
6: 67,269,246 (GRCm39) |
R856W |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,869,622 (GRCm39) |
Y605* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,950 (GRCm39) |
S251P |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,779 (GRCm39) |
N890D |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,863,746 (GRCm39) |
S324T |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,333,684 (GRCm39) |
D419G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,210 (GRCm39) |
L283P |
probably benign |
Het |
| Ndufb7 |
T |
A |
8: 84,298,063 (GRCm39) |
Y95N |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,309,075 (GRCm39) |
R280W |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,174,245 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or6f1 |
A |
C |
7: 85,970,879 (GRCm39) |
F94V |
possibly damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,923 (GRCm39) |
T277I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,608,943 (GRCm39) |
T240A |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,788,924 (GRCm39) |
R293* |
probably null |
Het |
| Pabpc4l |
T |
C |
3: 46,401,044 (GRCm39) |
D200G |
probably benign |
Het |
| Pramel31 |
A |
T |
4: 144,090,061 (GRCm39) |
D367V |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,819,046 (GRCm39) |
Y1423C |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,329,902 (GRCm39) |
D1143N |
probably damaging |
Het |
| Spsb4 |
C |
T |
9: 96,877,627 (GRCm39) |
|
probably null |
Het |
| Strada |
G |
T |
11: 106,061,843 (GRCm39) |
A136E |
probably damaging |
Het |
| Syce2 |
A |
T |
8: 85,610,131 (GRCm39) |
Q73L |
probably damaging |
Het |
| Teddm2 |
A |
T |
1: 153,726,130 (GRCm39) |
V195D |
probably benign |
Het |
| Tex36 |
A |
T |
7: 133,203,712 (GRCm39) |
N12K |
probably benign |
Het |
| Ubtf |
A |
G |
11: 102,199,785 (GRCm39) |
S484P |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,636,680 (GRCm39) |
L66R |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,601,197 (GRCm39) |
A814T |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,267,353 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
A |
C |
12: 40,385,308 (GRCm39) |
C305G |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,579,740 (GRCm39) |
C248S |
probably damaging |
Het |
|
| Other mutations in Plekhg6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Plekhg6
|
APN |
6 |
125,349,514 (GRCm39) |
missense |
probably null |
0.89 |
|
IGL01466:Plekhg6
|
APN |
6 |
125,349,587 (GRCm39) |
splice site |
probably benign |
|
|
IGL01621:Plekhg6
|
APN |
6 |
125,349,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01679:Plekhg6
|
APN |
6 |
125,351,942 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01696:Plekhg6
|
APN |
6 |
125,355,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02600:Plekhg6
|
APN |
6 |
125,347,563 (GRCm39) |
nonsense |
probably null |
|
|
IGL02604:Plekhg6
|
APN |
6 |
125,354,342 (GRCm39) |
splice site |
probably benign |
|
|
IGL02668:Plekhg6
|
APN |
6 |
125,349,766 (GRCm39) |
splice site |
probably benign |
|
|
R0370:Plekhg6
|
UTSW |
6 |
125,347,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Plekhg6
|
UTSW |
6 |
125,341,592 (GRCm39) |
splice site |
probably null |
|
|
R1182:Plekhg6
|
UTSW |
6 |
125,349,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1401:Plekhg6
|
UTSW |
6 |
125,340,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Plekhg6
|
UTSW |
6 |
125,352,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Plekhg6
|
UTSW |
6 |
125,340,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Plekhg6
|
UTSW |
6 |
125,340,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Plekhg6
|
UTSW |
6 |
125,354,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2991:Plekhg6
|
UTSW |
6 |
125,347,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3980:Plekhg6
|
UTSW |
6 |
125,350,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Plekhg6
|
UTSW |
6 |
125,350,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4227:Plekhg6
|
UTSW |
6 |
125,355,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4689:Plekhg6
|
UTSW |
6 |
125,350,144 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5573:Plekhg6
|
UTSW |
6 |
125,352,755 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6803:Plekhg6
|
UTSW |
6 |
125,340,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6885:Plekhg6
|
UTSW |
6 |
125,355,693 (GRCm39) |
missense |
probably benign |
|
|
R7105:Plekhg6
|
UTSW |
6 |
125,355,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7599:Plekhg6
|
UTSW |
6 |
125,351,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7626:Plekhg6
|
UTSW |
6 |
125,340,631 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8069:Plekhg6
|
UTSW |
6 |
125,340,009 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8204:Plekhg6
|
UTSW |
6 |
125,340,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Plekhg6
|
UTSW |
6 |
125,352,755 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8885:Plekhg6
|
UTSW |
6 |
125,351,523 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9181:Plekhg6
|
UTSW |
6 |
125,355,854 (GRCm39) |
start gained |
probably benign |
|
|
R9342:Plekhg6
|
UTSW |
6 |
125,340,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9701:Plekhg6
|
UTSW |
6 |
125,347,602 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGGGTTCCTCTCACAGG -3'
(R):5'- TGATCTCTAGTGTTCCCCGAAG -3'
Sequencing Primer
(F):5'- ATGGACACACCCAGCTGTG -3'
(R):5'- GAAGGTCTCGTTCCCCCTACAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation