Incidental Mutation 'R1182:Plekhg6'
| ID |
101646 |
| 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 |
039254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1182 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125339623-125357756 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 125349455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 381
(E381Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042647]
|
| AlphaFold |
Q8R0J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042647
AA Change: E381Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: E381Q
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
A |
8: 84,656,451 (GRCm39) |
D256E |
probably damaging |
Het |
| Adnp |
G |
A |
2: 168,026,716 (GRCm39) |
A193V |
possibly damaging |
Het |
| Atf7ip2 |
T |
C |
16: 10,059,699 (GRCm39) |
L413S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,928 (GRCm39) |
N252S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,449,811 (GRCm39) |
N904K |
probably damaging |
Het |
| Draxin |
T |
C |
4: 148,192,394 (GRCm39) |
E306G |
probably damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,132,680 (GRCm39) |
F9L |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,743,416 (GRCm39) |
C371S |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,933,409 (GRCm39) |
I506F |
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,285 (GRCm39) |
T301A |
probably damaging |
Het |
| Or8k20 |
T |
C |
2: 86,106,612 (GRCm39) |
N73S |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,413 (GRCm39) |
I1322V |
possibly damaging |
Het |
| Psmc3 |
T |
C |
2: 90,886,380 (GRCm39) |
I179T |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,810,185 (GRCm39) |
D295G |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,171 (GRCm39) |
V88A |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r232 |
C |
A |
17: 21,133,705 (GRCm39) |
L298F |
possibly damaging |
Het |
| Zfp629 |
C |
A |
7: 127,209,274 (GRCm39) |
C845F |
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 |
|
|
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 |
|
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'- TGGGTTCCTCTCACAGGAAGGAAG -3'
(R):5'- TGACTTGCTCATCAAGCCCCAC -3'
Sequencing Primer
(F):5'- GGATGGACACACCCAGC -3'
(R):5'- GGTAAGAACTGATCTCTAGTGTTCCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation