Incidental Mutation 'R7879:Plekhg3'
| ID |
608659 |
| 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 |
045931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76580330-76627265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76612343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 401
(I401M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075249]
[ENSMUST00000219063]
[ENSMUST00000219751]
|
| AlphaFold |
Q4VAC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075249
AA Change: I401M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: I401M
| 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 damaging
Transcript: ENSMUST00000219063
AA Change: I401M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219751
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
C |
5: 146,439,662 (GRCm39) |
I81T |
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,383,299 (GRCm39) |
P85S |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,223 (GRCm39) |
V74M |
probably damaging |
Het |
| Alb |
C |
A |
5: 90,620,507 (GRCm39) |
T539K |
probably benign |
Het |
| B4galnt2 |
G |
A |
11: 95,760,223 (GRCm39) |
T268I |
possibly damaging |
Het |
| Bcl7b |
G |
A |
5: 135,205,986 (GRCm39) |
E58K |
possibly damaging |
Het |
| Calr3 |
C |
T |
8: 73,178,487 (GRCm39) |
S372N |
unknown |
Het |
| Cdcp3 |
T |
A |
7: 130,844,871 (GRCm39) |
V588E |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
A |
C |
1: 109,976,677 (GRCm39) |
E114A |
probably benign |
Het |
| Cep70 |
A |
G |
9: 99,144,686 (GRCm39) |
R74G |
possibly damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,109 (GRCm39) |
F256S |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,984,551 (GRCm39) |
T996A |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,351,817 (GRCm39) |
V536A |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,441,820 (GRCm39) |
M348K |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,004,744 (GRCm39) |
D2192E |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,352,646 (GRCm39) |
I2600V |
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,785,700 (GRCm39) |
S185A |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,780,083 (GRCm39) |
D628V |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,333,718 (GRCm39) |
S371T |
probably benign |
Het |
| Fam83b |
A |
T |
9: 76,399,737 (GRCm39) |
N455K |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,736,365 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,295,471 (GRCm39) |
T327M |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,665,941 (GRCm39) |
M595K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,981,252 (GRCm39) |
A875V |
probably benign |
Het |
| Hvcn1 |
G |
A |
5: 122,376,701 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,238,145 (GRCm39) |
S679P |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,751,265 (GRCm39) |
H1285R |
probably benign |
Het |
| Kcnq4 |
T |
C |
4: 120,559,632 (GRCm39) |
T523A |
probably benign |
Het |
| Kif6 |
T |
A |
17: 50,139,214 (GRCm39) |
I562N |
probably benign |
Het |
| Klhl9 |
C |
A |
4: 88,638,575 (GRCm39) |
W555C |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,624 (GRCm39) |
T423A |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,111,362 (GRCm39) |
V391I |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,445,044 (GRCm39) |
M592V |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,968 (GRCm39) |
M275T |
possibly damaging |
Het |
| Nuak2 |
T |
A |
1: 132,259,695 (GRCm39) |
V499E |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,185 (GRCm39) |
C252* |
probably null |
Het |
| Or6c213 |
T |
C |
10: 129,574,559 (GRCm39) |
I76V |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,612,970 (GRCm39) |
E2052G |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,198,670 (GRCm39) |
C253S |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,727,228 (GRCm39) |
S2029P |
unknown |
Het |
| Polg |
A |
T |
7: 79,100,392 (GRCm39) |
C1140S |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,962,817 (GRCm39) |
L62H |
probably damaging |
Het |
| Psmf1 |
T |
A |
2: 151,576,163 (GRCm39) |
E115V |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,964,010 (GRCm39) |
N381I |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,436,485 (GRCm39) |
T728A |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,656,636 (GRCm39) |
A323S |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,028,910 (GRCm39) |
V778A |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,116,349 (GRCm39) |
L430* |
probably null |
Het |
| Sema7a |
A |
T |
9: 57,862,363 (GRCm39) |
I189F |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,571,386 (GRCm39) |
I39T |
probably benign |
Het |
| Stap2 |
T |
C |
17: 56,309,023 (GRCm39) |
T115A |
probably benign |
Het |
| Stmn4 |
A |
G |
14: 66,595,388 (GRCm39) |
I138V |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,236,335 (GRCm39) |
|
probably null |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,714,825 (GRCm39) |
D323E |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,401,347 (GRCm39) |
D140G |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,852,010 (GRCm39) |
R827H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,625,397 (GRCm39) |
|
probably null |
Het |
| Unc80 |
T |
C |
1: 66,549,866 (GRCm39) |
V708A |
probably benign |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,772 (GRCm39) |
T130S |
probably benign |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,755 (GRCm39) |
C129R |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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 |
|
|
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 |
|
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'- TGCATGTGACTGCCTTGTTC -3'
(R):5'- TACACCTTGCCTGTCCAGAG -3'
Sequencing Primer
(F):5'- GGTATAGACAGAAATCCTAGTCCTC -3'
(R):5'- GAGGACACCCACAGTTTCATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation