Incidental Mutation 'R6147:Plekhg3'
| ID |
488969 |
| 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 |
044294-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6147 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76580330-76627265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76611985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 362
(V362A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075249]
[ENSMUST00000218380]
[ENSMUST00000219063]
[ENSMUST00000219751]
|
| AlphaFold |
Q4VAC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075249
AA Change: V362A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: V362A
| 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 |
noncoding transcript
Transcript: ENSMUST00000218357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218461
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219063
AA Change: V362A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219751
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.1%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,657,157 (GRCm39) |
|
probably benign |
Het |
| Acsf3 |
T |
A |
8: 123,508,213 (GRCm39) |
D236E |
probably damaging |
Het |
| Aqp1 |
G |
T |
6: 55,313,595 (GRCm39) |
E40D |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Arfip1 |
A |
G |
3: 84,436,485 (GRCm39) |
V97A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,134 (GRCm39) |
Y165* |
probably null |
Het |
| Bclaf1 |
T |
A |
10: 20,199,171 (GRCm39) |
D189E |
possibly damaging |
Het |
| Camsap2 |
G |
A |
1: 136,273,138 (GRCm39) |
T13M |
probably damaging |
Het |
| Cblif |
G |
A |
19: 11,724,936 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
A |
9: 10,012,894 (GRCm39) |
Y297F |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,978,506 (GRCm39) |
C174Y |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Comtd1 |
C |
A |
14: 21,898,883 (GRCm39) |
A20S |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,796,056 (GRCm39) |
R1264W |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,777,294 (GRCm39) |
C180S |
probably benign |
Het |
| Ednra |
C |
T |
8: 78,393,951 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,858,566 (GRCm39) |
V3875A |
unknown |
Het |
| Ephb6 |
A |
T |
6: 41,593,715 (GRCm39) |
S533C |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,972,594 (GRCm39) |
|
probably null |
Het |
| Gm12185 |
A |
G |
11: 48,806,717 (GRCm39) |
I158T |
probably benign |
Het |
| Gm14325 |
A |
T |
2: 177,474,600 (GRCm39) |
C161S |
probably damaging |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,840 (GRCm39) |
Q20L |
probably damaging |
Het |
| Khnyn |
G |
C |
14: 56,125,060 (GRCm39) |
S438T |
probably damaging |
Het |
| Krt9 |
T |
C |
11: 100,079,665 (GRCm39) |
S576G |
unknown |
Het |
| Lrriq4 |
A |
T |
3: 30,713,228 (GRCm39) |
N443I |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,268,374 (GRCm39) |
Y199C |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,840,776 (GRCm39) |
Y268* |
probably null |
Het |
| Men1 |
T |
A |
19: 6,387,272 (GRCm39) |
D248E |
probably damaging |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,573 (GRCm39) |
C261S |
probably benign |
Het |
| Mpeg1 |
T |
G |
19: 12,440,258 (GRCm39) |
I572S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,113 (GRCm39) |
V204A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,945 (GRCm39) |
C805* |
probably null |
Het |
| Nphs2 |
A |
T |
1: 156,146,296 (GRCm39) |
K91* |
probably null |
Het |
| Obox3 |
A |
G |
7: 15,359,926 (GRCm39) |
S248P |
probably damaging |
Het |
| Or12d17 |
T |
C |
17: 37,777,430 (GRCm39) |
I111T |
probably benign |
Het |
| Or5w19 |
C |
T |
2: 87,699,061 (GRCm39) |
T242I |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,162,844 (GRCm39) |
N285K |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pan3 |
T |
C |
5: 147,485,093 (GRCm39) |
|
probably benign |
Het |
| Pate10 |
A |
G |
9: 35,653,528 (GRCm39) |
T111A |
possibly damaging |
Het |
| Pate10 |
A |
T |
9: 35,653,406 (GRCm39) |
Y70F |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,779 (GRCm39) |
L53Q |
probably damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,535,494 (GRCm39) |
R496L |
possibly damaging |
Het |
| Peg10 |
C |
T |
6: 4,754,499 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,481 (GRCm39) |
K722E |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,630,302 (GRCm39) |
S489P |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,426,093 (GRCm39) |
Y168C |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,483,695 (GRCm39) |
H264Y |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,315,250 (GRCm39) |
T1990K |
probably damaging |
Het |
| Rnf207 |
T |
C |
4: 152,400,112 (GRCm39) |
D192G |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,339 (GRCm39) |
F1784Y |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,956,836 (GRCm39) |
S2T |
probably benign |
Het |
| Slc26a2 |
T |
A |
18: 61,334,757 (GRCm39) |
Y232F |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,511,406 (GRCm39) |
M393L |
probably benign |
Het |
| Stx16 |
A |
G |
2: 173,932,480 (GRCm39) |
T18A |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,684,216 (GRCm39) |
S585T |
possibly damaging |
Het |
| Sult2a7 |
T |
C |
7: 14,199,088 (GRCm39) |
E313G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,400,207 (GRCm39) |
K86R |
probably benign |
Het |
| Tom1 |
A |
T |
8: 75,781,320 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Trbv4 |
A |
G |
6: 41,036,637 (GRCm39) |
Y54C |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,398 (GRCm39) |
Q400L |
probably damaging |
Het |
| Trim42 |
G |
T |
9: 97,245,382 (GRCm39) |
H473N |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,637,897 (GRCm39) |
S31P |
possibly damaging |
Het |
| Tshr |
T |
A |
12: 91,505,009 (GRCm39) |
M649K |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,202,700 (GRCm39) |
V126M |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,930,177 (GRCm39) |
H3971Q |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,858,698 (GRCm39) |
N622K |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,408,245 (GRCm39) |
Q242L |
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 |
|
R5591:Plekhg3
|
UTSW |
12 |
76,607,066 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6019:Plekhg3
|
UTSW |
12 |
76,624,715 (GRCm39) |
nonsense |
probably null |
|
|
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'- AAGGGCCACATTCCGGTAAC -3'
(R):5'- ACTAGGATTTCTGTCTATACCTCGG -3'
Sequencing Primer
(F):5'- GGCCACATTCCGGTAACTATGC -3'
(R):5'- CCTCGGATAATCTCACTTTACAGATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation