Incidental Mutation 'IGL02600:Plekhg6'
| ID |
300042 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.066)
|
| Stock # |
IGL02600
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
125339623-125357756 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 125347563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 464
(R464*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042647]
|
| AlphaFold |
Q8R0J1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042647
AA Change: R464*
|
| SMART Domains |
Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: R464*
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,200,264 (GRCm39) |
I483L |
probably benign |
Het |
| Bmpr1b |
A |
C |
3: 141,546,488 (GRCm39) |
M466R |
probably damaging |
Het |
| Casp8ap2 |
G |
A |
4: 32,630,246 (GRCm39) |
D42N |
probably null |
Het |
| Crebbp |
T |
A |
16: 3,972,882 (GRCm39) |
T271S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 166,868,124 (GRCm39) |
H319R |
probably damaging |
Het |
| Dync2i2 |
T |
A |
2: 29,923,314 (GRCm39) |
D263V |
possibly damaging |
Het |
| Gckr |
A |
G |
5: 31,462,374 (GRCm39) |
M236V |
probably benign |
Het |
| Gm28044 |
A |
C |
13: 67,469,025 (GRCm39) |
|
probably benign |
Het |
| Gmnc |
T |
A |
16: 26,781,641 (GRCm39) |
|
probably benign |
Het |
| Gpx3 |
C |
A |
11: 54,800,433 (GRCm39) |
D210E |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,545,693 (GRCm39) |
N513S |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,974,227 (GRCm39) |
R170C |
probably damaging |
Het |
| Nrxn3 |
G |
T |
12: 89,478,682 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,101,449 (GRCm39) |
I373V |
probably benign |
Het |
| Or13a21 |
T |
C |
7: 139,998,862 (GRCm39) |
T275A |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,570,756 (GRCm39) |
I265T |
possibly damaging |
Het |
| Padi3 |
A |
G |
4: 140,525,467 (GRCm39) |
V172A |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,411,105 (GRCm39) |
G554W |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Serinc1 |
A |
G |
10: 57,399,127 (GRCm39) |
S259P |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,077,832 (GRCm39) |
S207T |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,790,123 (GRCm39) |
G548R |
probably damaging |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,052 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,570,509 (GRCm39) |
P26795S |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,817,829 (GRCm39) |
M661V |
probably benign |
Het |
| Ybey |
G |
A |
10: 76,300,165 (GRCm39) |
|
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,194,196 (GRCm39) |
D715G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,394,623 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation