Incidental Mutation 'IGL01696:Plekhg6'
| ID |
104285 |
| 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 # |
IGL01696
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
125339623-125357756 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125355793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 4
(F4L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042647]
|
| AlphaFold |
Q8R0J1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042647
AA Change: F4L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: F4L
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
A |
G |
5: 121,638,856 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ano3 |
T |
G |
2: 110,498,082 (GRCm39) |
D753A |
probably damaging |
Het |
| Apoc4 |
C |
T |
7: 19,412,109 (GRCm39) |
C113Y |
probably damaging |
Het |
| Arhgdia |
A |
G |
11: 120,471,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,573,815 (GRCm39) |
T459A |
possibly damaging |
Het |
| Ccdc190 |
A |
C |
1: 169,761,393 (GRCm39) |
K165T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,567,128 (GRCm39) |
V1185A |
probably benign |
Het |
| Ednrb |
C |
T |
14: 104,060,625 (GRCm39) |
V223I |
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,623,538 (GRCm39) |
I151V |
possibly damaging |
Het |
| Gm15737 |
T |
A |
6: 92,856,802 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,837,371 (GRCm39) |
H348R |
possibly damaging |
Het |
| Immp2l |
G |
T |
12: 41,675,590 (GRCm39) |
A95S |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,425,997 (GRCm39) |
Y928C |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,680 (GRCm39) |
H210R |
probably benign |
Het |
| Or1l4 |
A |
G |
2: 37,091,523 (GRCm39) |
E90G |
probably benign |
Het |
| Or7g17 |
A |
T |
9: 18,768,352 (GRCm39) |
I135L |
probably benign |
Het |
| Or8c15 |
A |
C |
9: 38,120,345 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,783,126 (GRCm39) |
S731R |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,747 (GRCm39) |
M1694T |
possibly damaging |
Het |
| Pld2 |
C |
A |
11: 70,433,606 (GRCm39) |
R212S |
probably damaging |
Het |
| Rps6ka6 |
T |
C |
X: 110,317,214 (GRCm39) |
Q634R |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,671,822 (GRCm39) |
E378G |
probably benign |
Het |
| Tmem184b |
T |
C |
15: 79,262,729 (GRCm39) |
T43A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,577,132 (GRCm39) |
V24587A |
probably damaging |
Het |
| Uba7 |
T |
A |
9: 107,854,547 (GRCm39) |
L262Q |
probably damaging |
Het |
| Zfp954 |
G |
T |
7: 7,118,397 (GRCm39) |
H382Q |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation