Incidental Mutation 'R2885:Plekhg3'
| ID |
261024 |
| 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 |
040473-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2885 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76580330-76627265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76611735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 338
(V338A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075249]
[ENSMUST00000217730]
[ENSMUST00000218380]
[ENSMUST00000219063]
[ENSMUST00000219751]
|
| AlphaFold |
Q4VAC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075249
AA Change: V338A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: V338A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219063
AA Change: V338A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219751
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,749,940 (GRCm39) |
S1453G |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,027,084 (GRCm39) |
F142S |
probably damaging |
Het |
| Cmip |
A |
G |
8: 118,111,704 (GRCm39) |
N145S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,492,849 (GRCm39) |
D287N |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,375,808 (GRCm39) |
R172* |
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,951,162 (GRCm39) |
Q1145* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,580,593 (GRCm39) |
I659N |
probably damaging |
Het |
| Dync2h1 |
G |
C |
9: 7,102,329 (GRCm39) |
F2690L |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,584,114 (GRCm39) |
V289A |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,925,806 (GRCm39) |
R219C |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,309 (GRCm39) |
N269S |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,469 (GRCm39) |
Y148N |
probably damaging |
Het |
| Mzt2 |
G |
T |
16: 15,680,780 (GRCm39) |
A3E |
unknown |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,977,574 (GRCm39) |
V1959E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,595 (GRCm39) |
I130T |
possibly damaging |
Het |
| Prl3b1 |
A |
T |
13: 27,433,505 (GRCm39) |
N220I |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,456 (GRCm39) |
Q254R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,774,223 (GRCm39) |
R2404S |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,247,506 (GRCm39) |
I463T |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,914,667 (GRCm39) |
F1483S |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,816,506 (GRCm39) |
P1515S |
probably benign |
Het |
| Sit1 |
C |
T |
4: 43,483,314 (GRCm39) |
R50H |
possibly damaging |
Het |
| Smc6 |
T |
C |
12: 11,326,294 (GRCm39) |
V97A |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,144 (GRCm39) |
S268G |
probably benign |
Het |
| Ube2frt |
A |
G |
12: 36,140,574 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,403 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,628 (GRCm39) |
Y82F |
probably benign |
Het |
| Zfp709 |
A |
T |
8: 72,643,549 (GRCm39) |
D325V |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
probably damaging |
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 |
|
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 |
|
R5591:Plekhg3
|
UTSW |
12 |
76,607,066 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
PCR Primer
(F):5'- GTCTCTACTGCAGGAGATCCAG -3'
(R):5'- CTTTCGATCAGCATCAGTGAGG -3'
Sequencing Primer
(F):5'- CAGTCACTGCTCATTAACTGGAAGG -3'
(R):5'- TGAGGAGCACTGTGGGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation