Incidental Mutation 'R9220:Plekhg3'
| ID |
699420 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9220 (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 A
at 76618839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 497
(M497K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075249]
[ENSMUST00000219063]
|
| AlphaFold |
Q4VAC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075249
AA Change: M497K
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: M497K
| 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: ENSMUST00000219063
AA Change: M467K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Afg3l2 |
T |
G |
18: 67,562,266 (GRCm39) |
I270L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,187,232 (GRCm39) |
I1549F |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,737,086 (GRCm39) |
T2933A |
unknown |
Het |
| Atp1a3 |
C |
A |
7: 24,696,625 (GRCm39) |
E309* |
probably null |
Het |
| B4galt2 |
T |
C |
4: 117,734,399 (GRCm39) |
Y250C |
probably damaging |
Het |
| Bcl2l13 |
C |
A |
6: 120,847,735 (GRCm39) |
T129K |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,626,457 (GRCm39) |
T384S |
probably benign |
Het |
| Clp1 |
A |
T |
2: 84,554,076 (GRCm39) |
H364Q |
probably damaging |
Het |
| Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,415 (GRCm39) |
C521R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,871,437 (GRCm39) |
I2486F |
probably benign |
Het |
| Eml1 |
C |
A |
12: 108,480,702 (GRCm39) |
C389* |
probably null |
Het |
| Fabp6 |
C |
T |
11: 43,489,572 (GRCm39) |
G23D |
probably benign |
Het |
| Fam3b |
A |
T |
16: 97,302,111 (GRCm39) |
S38T |
probably benign |
Het |
| Fsd1l |
A |
T |
4: 53,679,799 (GRCm39) |
K166* |
probably null |
Het |
| Galc |
A |
G |
12: 98,220,523 (GRCm39) |
S115P |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,664,884 (GRCm39) |
A303T |
probably benign |
Het |
| Grid2 |
A |
T |
6: 63,885,888 (GRCm39) |
S95C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,560,873 (GRCm39) |
S1312T |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,410,325 (GRCm39) |
F506L |
possibly damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,512 (GRCm39) |
S148G |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,484,398 (GRCm39) |
D333V |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,805,711 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,149,523 (GRCm39) |
N377Y |
probably damaging |
Het |
| Nox4 |
C |
T |
7: 86,970,774 (GRCm39) |
T217I |
probably benign |
Het |
| Or7g21 |
T |
C |
9: 19,033,193 (GRCm39) |
F311S |
possibly damaging |
Het |
| Or8b52 |
A |
T |
9: 38,576,803 (GRCm39) |
Y112* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,286,494 (GRCm39) |
I103V |
probably benign |
Het |
| Plekhd1 |
T |
A |
12: 80,768,726 (GRCm39) |
F403Y |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,805 (GRCm39) |
S1231P |
|
Het |
| Rpap1 |
T |
C |
2: 119,604,669 (GRCm39) |
H413R |
probably damaging |
Het |
| Rragd |
A |
G |
4: 32,995,924 (GRCm39) |
T90A |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,242,396 (GRCm39) |
M286T |
probably benign |
Het |
| Shpk |
GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA |
GA |
11: 73,113,996 (GRCm39) |
|
probably null |
Het |
| Slc22a2 |
T |
A |
17: 12,838,757 (GRCm39) |
D528E |
probably benign |
Het |
| Slirp |
G |
A |
12: 87,494,376 (GRCm39) |
R47K |
probably benign |
Het |
| Sncg |
T |
C |
14: 34,096,474 (GRCm39) |
T22A |
possibly damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,398,801 (GRCm39) |
S636G |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,546,534 (GRCm39) |
S535R |
probably damaging |
Het |
| Vmn1r149 |
A |
T |
7: 22,137,378 (GRCm39) |
S93T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,783,058 (GRCm39) |
Y3957H |
|
Het |
| Wdr35 |
T |
A |
12: 9,036,000 (GRCm39) |
V257E |
possibly damaging |
Het |
| Wscd1 |
A |
G |
11: 71,662,750 (GRCm39) |
T264A |
probably benign |
Het |
| Zfp266 |
G |
A |
9: 20,413,337 (GRCm39) |
Q108* |
probably null |
Het |
| Zfp62 |
T |
A |
11: 49,106,075 (GRCm39) |
S55R |
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 |
|
|
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 |
|
|
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'- CTCACATTGGCTCTGTGCTG -3'
(R):5'- ATGGTGGCAAGGCTGAGATC -3'
Sequencing Primer
(F):5'- GAGCTGTCATTCATTCCTTTGAAAGC -3'
(R):5'- AAGGCTGAGATCTGGTCCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation