Incidental Mutation 'R2991:Plekhg6'
| ID |
257901 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R2991 (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 125347432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 479
(E479G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042647]
|
| AlphaFold |
Q8R0J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042647
AA Change: E479G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: E479G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
A |
9: 30,832,690 (GRCm39) |
T282S |
probably benign |
Het |
| Asic2 |
C |
A |
11: 81,858,863 (GRCm39) |
V50L |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,823,521 (GRCm39) |
M324V |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,848,429 (GRCm39) |
D861V |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,547 (GRCm39) |
V427D |
probably damaging |
Het |
| Col3a1 |
C |
A |
1: 45,374,939 (GRCm39) |
|
probably benign |
Het |
| Esp24 |
A |
T |
17: 39,350,894 (GRCm39) |
E31D |
possibly damaging |
Het |
| Igkv14-100 |
T |
A |
6: 68,496,335 (GRCm39) |
L76* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,708,474 (GRCm39) |
V843A |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,741,946 (GRCm39) |
S663P |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,380,547 (GRCm39) |
N630S |
probably damaging |
Het |
| Lypd8l |
C |
T |
11: 58,501,516 (GRCm39) |
V156I |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,611,497 (GRCm39) |
V42A |
probably benign |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,401 (GRCm39) |
Y327C |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,675 (GRCm39) |
C97Y |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,114,539 (GRCm39) |
S369P |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,137 (GRCm39) |
I600V |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rgmb |
A |
T |
17: 16,041,352 (GRCm39) |
D78E |
probably damaging |
Het |
| Samd12 |
C |
T |
15: 53,723,592 (GRCm39) |
E34K |
probably damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,850,195 (GRCm39) |
E220A |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,339,982 (GRCm39) |
E430G |
probably damaging |
Het |
| Snx15 |
C |
A |
19: 6,171,515 (GRCm39) |
L186F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,568,525 (GRCm39) |
E1557G |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,232,589 (GRCm39) |
T644S |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,961,780 (GRCm39) |
F247Y |
probably damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,745,858 (GRCm39) |
V165A |
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 |
|
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 |
|
R5532:Plekhg6
|
UTSW |
6 |
125,349,514 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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'- CTTTCTCAGACTCTGGAAGGC -3'
(R):5'- GCTCCTGGTAACCAAACCTC -3'
Sequencing Primer
(F):5'- ACCTGCTGCTGGTCAGATCTG -3'
(R):5'- GACAGAGCCAAGGTCATCCGTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation