Incidental Mutation 'R5591:Plekhg3'
ID |
437538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhg3
|
Ensembl Gene |
ENSMUSG00000052609 |
Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 3 |
Synonyms |
MGC40768 |
MMRRC Submission |
043269-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5591 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
76580330-76627265 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76607066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 42
(S42L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075249]
[ENSMUST00000217730]
[ENSMUST00000218380]
[ENSMUST00000219063]
[ENSMUST00000219751]
|
AlphaFold |
Q4VAC9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075249
AA Change: S42L
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000074729 Gene: ENSMUSG00000052609 AA Change: S42L
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
RhoGEF
|
97 |
271 |
6.67e-51 |
SMART |
PH
|
297 |
396 |
2.48e-9 |
SMART |
coiled coil region
|
515 |
552 |
N/A |
INTRINSIC |
low complexity region
|
563 |
585 |
N/A |
INTRINSIC |
low complexity region
|
696 |
710 |
N/A |
INTRINSIC |
low complexity region
|
727 |
737 |
N/A |
INTRINSIC |
low complexity region
|
753 |
766 |
N/A |
INTRINSIC |
low complexity region
|
978 |
993 |
N/A |
INTRINSIC |
low complexity region
|
1233 |
1246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218357
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218380
AA Change: S42L
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218461
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219063
AA Change: S42L
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219751
AA Change: S42L
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
T |
C |
7: 44,794,076 (GRCm39) |
E13G |
probably null |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Bub1 |
A |
T |
2: 127,661,263 (GRCm39) |
M276K |
probably benign |
Het |
Casp14 |
A |
T |
10: 78,550,179 (GRCm39) |
D156E |
unknown |
Het |
Ccdc82 |
T |
A |
9: 13,272,822 (GRCm39) |
|
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,289,521 (GRCm39) |
N436S |
probably benign |
Het |
Cyp2j12 |
A |
G |
4: 96,029,359 (GRCm39) |
|
probably benign |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Daxx |
T |
C |
17: 34,130,662 (GRCm39) |
S226P |
probably damaging |
Het |
Gm3676 |
T |
C |
14: 41,365,181 (GRCm39) |
Y158C |
probably benign |
Het |
Gnai1 |
A |
T |
5: 18,476,844 (GRCm39) |
I285K |
probably benign |
Het |
Gpr179 |
C |
T |
11: 97,236,581 (GRCm39) |
V417I |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,882,051 (GRCm39) |
M247I |
probably damaging |
Het |
Hmcn2 |
C |
T |
2: 31,234,059 (GRCm39) |
L275F |
probably damaging |
Het |
Ifi27l2b |
A |
G |
12: 103,417,566 (GRCm39) |
V207A |
probably damaging |
Het |
Isg20l2 |
C |
T |
3: 87,837,731 (GRCm39) |
|
probably benign |
Het |
Itga6 |
A |
G |
2: 71,670,934 (GRCm39) |
D221G |
probably damaging |
Het |
Lca5l |
T |
C |
16: 95,979,929 (GRCm39) |
Y67C |
probably damaging |
Het |
Loxl3 |
T |
A |
6: 83,025,018 (GRCm39) |
C249S |
probably damaging |
Het |
Luc7l3 |
T |
C |
11: 94,184,060 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
Mbd5 |
A |
C |
2: 49,164,681 (GRCm39) |
Q958H |
probably damaging |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mrm3 |
G |
A |
11: 76,140,907 (GRCm39) |
R305H |
probably benign |
Het |
Mtrex |
A |
T |
13: 113,063,890 (GRCm39) |
M1K |
probably null |
Het |
Or10ak7 |
A |
T |
4: 118,791,658 (GRCm39) |
I127K |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,625,244 (GRCm39) |
I304F |
probably benign |
Het |
Or2aj5 |
T |
A |
16: 19,424,608 (GRCm39) |
Q270L |
probably damaging |
Het |
Or2ak7 |
A |
G |
11: 58,574,951 (GRCm39) |
N84S |
probably benign |
Het |
Or2d3c |
A |
T |
7: 106,526,489 (GRCm39) |
M59K |
probably damaging |
Het |
Or4c126 |
A |
G |
2: 89,823,751 (GRCm39) |
T5A |
possibly damaging |
Het |
Or51q1 |
G |
T |
7: 103,629,320 (GRCm39) |
R307L |
probably benign |
Het |
P3h3 |
C |
T |
6: 124,831,658 (GRCm39) |
|
probably benign |
Het |
Pals2 |
A |
G |
6: 50,157,159 (GRCm39) |
S276G |
probably benign |
Het |
Polq |
A |
G |
16: 36,832,247 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
T |
C |
4: 143,675,377 (GRCm39) |
Y483C |
probably damaging |
Het |
Pramel28 |
G |
T |
4: 143,691,530 (GRCm39) |
L398I |
probably damaging |
Het |
Raph1 |
G |
A |
1: 60,540,905 (GRCm39) |
|
probably benign |
Het |
Rnf144b |
G |
A |
13: 47,396,430 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
G |
13: 11,609,900 (GRCm39) |
S4309P |
probably benign |
Het |
Sash1 |
A |
T |
10: 8,601,482 (GRCm39) |
S1158T |
probably benign |
Het |
Sim2 |
T |
C |
16: 93,898,048 (GRCm39) |
V94A |
probably damaging |
Het |
Sirt5 |
A |
G |
13: 43,525,317 (GRCm39) |
D42G |
possibly damaging |
Het |
Smarcal1 |
A |
T |
1: 72,630,412 (GRCm39) |
K155N |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,800,545 (GRCm39) |
Y428C |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,583,922 (GRCm39) |
N1655S |
probably benign |
Het |
Sympk |
A |
G |
7: 18,787,964 (GRCm39) |
E1160G |
probably damaging |
Het |
Tmem192 |
A |
G |
8: 65,418,254 (GRCm39) |
Y168C |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,540,012 (GRCm39) |
M25998L |
probably benign |
Het |
Usp48 |
A |
G |
4: 137,379,963 (GRCm39) |
|
probably benign |
Het |
Vamp4 |
A |
G |
1: 162,415,811 (GRCm39) |
I71V |
possibly damaging |
Het |
Washc5 |
C |
A |
15: 59,241,012 (GRCm39) |
D108Y |
probably damaging |
Het |
Wdfy4 |
T |
A |
14: 32,829,087 (GRCm39) |
H1043L |
probably benign |
Het |
Zcchc14 |
C |
T |
8: 122,332,187 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,579,262 (GRCm39) |
F617S |
probably damaging |
Het |
Zfp869 |
T |
A |
8: 70,160,342 (GRCm39) |
N77I |
probably benign |
Het |
|
Other mutations in Plekhg3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01079:Plekhg3
|
APN |
12 |
76,609,052 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01143:Plekhg3
|
APN |
12 |
76,611,756 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02079:Plekhg3
|
APN |
12 |
76,607,203 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02349:Plekhg3
|
APN |
12 |
76,609,074 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02442:Plekhg3
|
APN |
12 |
76,625,127 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02570:Plekhg3
|
APN |
12 |
76,625,019 (GRCm39) |
missense |
probably benign |
|
flagging
|
UTSW |
12 |
76,607,294 (GRCm39) |
critical splice donor site |
probably null |
|
R0667_Plekhg3_072
|
UTSW |
12 |
76,623,372 (GRCm39) |
missense |
probably damaging |
1.00 |
trailing
|
UTSW |
12 |
76,611,735 (GRCm39) |
missense |
probably benign |
0.15 |
R0344:Plekhg3
|
UTSW |
12 |
76,613,040 (GRCm39) |
nonsense |
probably null |
|
R0667:Plekhg3
|
UTSW |
12 |
76,623,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1269:Plekhg3
|
UTSW |
12 |
76,607,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R1566:Plekhg3
|
UTSW |
12 |
76,618,839 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1905:Plekhg3
|
UTSW |
12 |
76,622,991 (GRCm39) |
missense |
probably benign |
0.05 |
R2885:Plekhg3
|
UTSW |
12 |
76,611,735 (GRCm39) |
missense |
probably benign |
0.15 |
R2962:Plekhg3
|
UTSW |
12 |
76,619,433 (GRCm39) |
critical splice donor site |
probably null |
|
R3784:Plekhg3
|
UTSW |
12 |
76,607,294 (GRCm39) |
critical splice donor site |
probably null |
|
R3941:Plekhg3
|
UTSW |
12 |
76,620,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R4056:Plekhg3
|
UTSW |
12 |
76,612,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Plekhg3
|
UTSW |
12 |
76,624,755 (GRCm39) |
missense |
probably benign |
0.02 |
R4412:Plekhg3
|
UTSW |
12 |
76,624,538 (GRCm39) |
missense |
probably damaging |
0.96 |
R4413:Plekhg3
|
UTSW |
12 |
76,624,538 (GRCm39) |
missense |
probably damaging |
0.96 |
R4704:Plekhg3
|
UTSW |
12 |
76,625,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R4720:Plekhg3
|
UTSW |
12 |
76,625,096 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4738:Plekhg3
|
UTSW |
12 |
76,623,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R4898:Plekhg3
|
UTSW |
12 |
76,610,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R4994:Plekhg3
|
UTSW |
12 |
76,612,311 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4999:Plekhg3
|
UTSW |
12 |
76,612,021 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5484:Plekhg3
|
UTSW |
12 |
76,625,174 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6019:Plekhg3
|
UTSW |
12 |
76,624,715 (GRCm39) |
nonsense |
probably null |
|
R6147:Plekhg3
|
UTSW |
12 |
76,611,985 (GRCm39) |
missense |
probably damaging |
0.96 |
R6272:Plekhg3
|
UTSW |
12 |
76,623,619 (GRCm39) |
missense |
probably benign |
0.00 |
R6482:Plekhg3
|
UTSW |
12 |
76,622,778 (GRCm39) |
missense |
probably benign |
0.01 |
R7081:Plekhg3
|
UTSW |
12 |
76,625,019 (GRCm39) |
missense |
probably benign |
|
R7349:Plekhg3
|
UTSW |
12 |
76,611,339 (GRCm39) |
missense |
probably benign |
0.45 |
R7439:Plekhg3
|
UTSW |
12 |
76,623,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Plekhg3
|
UTSW |
12 |
76,612,996 (GRCm39) |
missense |
probably damaging |
0.98 |
R7879:Plekhg3
|
UTSW |
12 |
76,612,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8256:Plekhg3
|
UTSW |
12 |
76,609,041 (GRCm39) |
missense |
probably damaging |
0.98 |
R8298:Plekhg3
|
UTSW |
12 |
76,623,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8492:Plekhg3
|
UTSW |
12 |
76,622,790 (GRCm39) |
missense |
probably benign |
|
R8886:Plekhg3
|
UTSW |
12 |
76,611,748 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9090:Plekhg3
|
UTSW |
12 |
76,622,694 (GRCm39) |
missense |
probably benign |
|
R9117:Plekhg3
|
UTSW |
12 |
76,624,905 (GRCm39) |
missense |
probably benign |
|
R9220:Plekhg3
|
UTSW |
12 |
76,618,839 (GRCm39) |
missense |
probably benign |
0.18 |
R9271:Plekhg3
|
UTSW |
12 |
76,622,694 (GRCm39) |
missense |
probably benign |
|
R9294:Plekhg3
|
UTSW |
12 |
76,609,052 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9394:Plekhg3
|
UTSW |
12 |
76,623,862 (GRCm39) |
missense |
probably damaging |
0.99 |
R9468:Plekhg3
|
UTSW |
12 |
76,607,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R9711:Plekhg3
|
UTSW |
12 |
76,611,726 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9747:Plekhg3
|
UTSW |
12 |
76,611,367 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Plekhg3
|
UTSW |
12 |
76,620,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1176:Plekhg3
|
UTSW |
12 |
76,622,630 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Plekhg3
|
UTSW |
12 |
76,625,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2016-10-26 |