Incidental Mutation 'R4056:Plekhg3'
| ID |
314262 |
| 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 |
041617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4056 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76580330-76627265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76612021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 374
(I374N)
|
| 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: I374N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: I374N
| 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: I374N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219751
|
| Meta Mutation Damage Score |
0.2889 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
A |
11: 80,266,329 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,464,212 (GRCm39) |
K749* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,564,785 (GRCm39) |
E53G |
unknown |
Het |
| Bmper |
A |
G |
9: 23,310,925 (GRCm39) |
H453R |
probably benign |
Het |
| Btg1 |
T |
A |
10: 96,454,216 (GRCm39) |
M1K |
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Cntfr |
A |
G |
4: 41,658,900 (GRCm39) |
I277T |
probably damaging |
Het |
| Col6a4 |
C |
A |
9: 105,903,665 (GRCm39) |
R1642I |
probably damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,838,347 (GRCm39) |
I808T |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,961,364 (GRCm39) |
T2554A |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,515,593 (GRCm39) |
F77S |
probably damaging |
Het |
| Gvin3 |
G |
T |
7: 106,203,216 (GRCm39) |
D9E |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
| Hs3st2 |
T |
A |
7: 121,099,925 (GRCm39) |
L257Q |
probably damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,287 (GRCm39) |
T106A |
probably benign |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,886,541 (GRCm39) |
V114A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Mast2 |
T |
A |
4: 116,194,698 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,702,839 (GRCm39) |
E5G |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Net1 |
G |
A |
13: 3,934,949 (GRCm39) |
T359I |
probably damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,301,899 (GRCm39) |
H616L |
probably benign |
Het |
| Plekha5 |
G |
T |
6: 140,534,958 (GRCm39) |
V597L |
possibly damaging |
Het |
| Pros1 |
A |
T |
16: 62,721,008 (GRCm39) |
R188* |
probably null |
Het |
| Rhbg |
C |
T |
3: 88,150,755 (GRCm39) |
V434I |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,363,163 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,975,098 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Slc22a23 |
A |
C |
13: 34,482,987 (GRCm39) |
Y181* |
probably null |
Het |
| Spata31 |
T |
A |
13: 65,069,469 (GRCm39) |
V539E |
probably benign |
Het |
| Trpv5 |
G |
A |
6: 41,636,639 (GRCm39) |
R436C |
probably damaging |
Het |
| Vmn1r13 |
G |
A |
6: 57,186,970 (GRCm39) |
C43Y |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,641,057 (GRCm39) |
N1229S |
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 |
|
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'- TCTGGCTTCAATGGGCTCTG -3'
(R):5'- TTCAGGTCAGAACTGCCCAG -3'
Sequencing Primer
(F):5'- GCTGCCATCTTCTGAGACTTG -3'
(R):5'- CAGTACTTTCTACCAAGGGACAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation