Incidental Mutation 'R5573:Plekhg6'
| ID |
435775 |
| 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 |
043128-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5573 (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 G
at 125352755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 131
(I131L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042647]
|
| AlphaFold |
Q8R0J1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042647
AA Change: I131L
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: I131L
| 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: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
| Asic5 |
T |
A |
3: 81,911,791 (GRCm39) |
F129Y |
probably benign |
Het |
| Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
| Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
| Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
| Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
| Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
| Dse |
C |
A |
10: 34,028,678 (GRCm39) |
R804L |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
| Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,000,686 (GRCm39) |
H117Q |
probably benign |
Het |
| Mettl23 |
A |
G |
11: 116,734,437 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,485,626 (GRCm39) |
V95A |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,380,423 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
| Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
| Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,673,676 (GRCm39) |
C143* |
probably null |
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 |
|
R5532:Plekhg6
|
UTSW |
6 |
125,349,514 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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'- GTGCTATATCCCACGGTCTTTG -3'
(R):5'- TGTATGTATACATGTGTGCGCAC -3'
Sequencing Primer
(F):5'- CTTTTTCAGGACAGAAGTAAGACAC -3'
(R):5'- TGCGCACACAGCCAGTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation