Incidental Mutation 'IGL02349:Plekhg3'
| ID |
289439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhg3
|
| Ensembl Gene |
ENSMUSG00000052609 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 3 |
| Synonyms |
MGC40768 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
76580330-76627265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76609074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 149
(N149I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075249]
[ENSMUST00000217730]
[ENSMUST00000218380]
[ENSMUST00000219063]
[ENSMUST00000219751]
|
| AlphaFold |
Q4VAC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075249
AA Change: N149I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: N149I
| 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 damaging
Transcript: ENSMUST00000219063
AA Change: N149I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219751
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,462 (GRCm39) |
I484V |
probably benign |
Het |
| Acly |
C |
T |
11: 100,410,505 (GRCm39) |
E158K |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,837,226 (GRCm39) |
D3E |
probably benign |
Het |
| Alg8 |
A |
G |
7: 97,029,101 (GRCm39) |
N152S |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,319,212 (GRCm39) |
T323A |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,744,989 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Cacnb3 |
A |
T |
15: 98,538,842 (GRCm39) |
K159* |
probably null |
Het |
| Capns2 |
T |
A |
8: 93,628,690 (GRCm39) |
V193D |
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,889,044 (GRCm39) |
I48T |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,876 (GRCm39) |
S555P |
probably damaging |
Het |
| Col5a3 |
T |
C |
9: 20,683,657 (GRCm39) |
E1533G |
unknown |
Het |
| Cyp17a1 |
A |
G |
19: 46,655,936 (GRCm39) |
L451P |
probably damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,170 (GRCm39) |
E407G |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,138,663 (GRCm39) |
L235* |
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,844,336 (GRCm39) |
Y50H |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,049 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
T |
11: 49,698,530 (GRCm39) |
I42F |
probably benign |
Het |
| Glcci1 |
A |
G |
6: 8,558,581 (GRCm39) |
K35E |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 35,006,680 (GRCm39) |
M163L |
probably damaging |
Het |
| Gpr132 |
T |
C |
12: 112,816,475 (GRCm39) |
Y117C |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,754,223 (GRCm39) |
P650S |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,352,189 (GRCm39) |
D464G |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,427,327 (GRCm39) |
G185C |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,687,661 (GRCm39) |
M570K |
probably damaging |
Het |
| Macir |
A |
G |
1: 97,573,777 (GRCm39) |
L96P |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,506 (GRCm39) |
D615V |
possibly damaging |
Het |
| Map3k7cl |
A |
G |
16: 87,352,901 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
C |
3: 88,818,205 (GRCm39) |
S360R |
possibly damaging |
Het |
| Myo15b |
C |
A |
11: 115,753,931 (GRCm39) |
|
probably benign |
Het |
| Nhlrc2 |
T |
C |
19: 56,580,151 (GRCm39) |
V428A |
possibly damaging |
Het |
| Or13a28 |
T |
C |
7: 140,218,384 (GRCm39) |
F257L |
probably benign |
Het |
| Or1j19 |
A |
C |
2: 36,677,058 (GRCm39) |
T174P |
possibly damaging |
Het |
| Or51a39 |
G |
A |
7: 102,363,333 (GRCm39) |
R96C |
probably damaging |
Het |
| Or51f2 |
A |
T |
7: 102,527,116 (GRCm39) |
Y263F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,812 (GRCm39) |
S43P |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,657,502 (GRCm39) |
M24K |
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,741,192 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
A |
14: 33,677,676 (GRCm39) |
H541Q |
probably damaging |
Het |
| Rgp1 |
T |
C |
4: 43,581,236 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
A |
T |
10: 89,493,800 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
A |
C |
6: 42,193,010 (GRCm39) |
H250P |
probably benign |
Het |
| Tmppe |
T |
C |
9: 114,234,268 (GRCm39) |
V189A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,029,555 (GRCm39) |
S1875L |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,261,944 (GRCm39) |
L60H |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,667,898 (GRCm39) |
D217G |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,724 (GRCm39) |
L638P |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,774,401 (GRCm39) |
N148S |
possibly damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,266,467 (GRCm39) |
Q241* |
probably null |
Het |
| Zfp990 |
A |
G |
4: 145,257,447 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation