Incidental Mutation 'R4058:Plekhg1'
| ID |
314347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhg1
|
| Ensembl Gene |
ENSMUSG00000040624 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 1 |
| Synonyms |
D10Ertd733e |
| MMRRC Submission |
040969-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R4058 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3907087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 668
(D668G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042438
AA Change: D668G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: D668G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
RhoGEF
|
116 |
291 |
4.17e-52 |
SMART |
|
PH
|
323 |
417 |
2.54e-6 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
1151 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120274
AA Change: D668G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: D668G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
RhoGEF
|
116 |
291 |
4.17e-52 |
SMART |
|
PH
|
323 |
417 |
2.54e-6 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
1151 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136671
AA Change: D723G
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: D723G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
|
RhoGEF
|
172 |
347 |
4.17e-52 |
SMART |
|
PH
|
379 |
473 |
2.54e-6 |
SMART |
|
low complexity region
|
475 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1218 |
N/A |
INTRINSIC |
|
low complexity region
|
1242 |
1253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141367
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154727
AA Change: D522G
|
| SMART Domains |
Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: D522G
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
4 |
146 |
2.25e-25 |
SMART |
|
PH
|
178 |
272 |
2.54e-6 |
SMART |
|
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1052 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1828 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
88% (38/43) |
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
| Anxa4 |
C |
T |
6: 86,734,800 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
| H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
| Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
| Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,561,245 (GRCm39) |
F418L |
probably benign |
Het |
| Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,358,525 (GRCm39) |
I83N |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
| Slc1a5 |
T |
C |
7: 16,529,778 (GRCm39) |
V399A |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,264 (GRCm39) |
K581M |
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
| Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
probably benign |
Het |
|
| Other mutations in Plekhg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01589:Plekhg1
|
APN |
10 |
3,913,631 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01639:Plekhg1
|
APN |
10 |
3,906,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01766:Plekhg1
|
APN |
10 |
3,823,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01983:Plekhg1
|
APN |
10 |
3,895,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Plekhg1
|
APN |
10 |
3,895,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02420:Plekhg1
|
APN |
10 |
3,914,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Plekhg1
|
APN |
10 |
3,908,103 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02505:Plekhg1
|
APN |
10 |
3,907,139 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02659:Plekhg1
|
APN |
10 |
3,907,069 (GRCm39) |
nonsense |
probably null |
|
|
IGL02730:Plekhg1
|
APN |
10 |
3,823,242 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
BB006:Plekhg1
|
UTSW |
10 |
3,869,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB016:Plekhg1
|
UTSW |
10 |
3,869,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4453001:Plekhg1
|
UTSW |
10 |
3,913,469 (GRCm39) |
missense |
|
|
|
R0041:Plekhg1
|
UTSW |
10 |
3,914,076 (GRCm39) |
nonsense |
probably null |
|
|
R0041:Plekhg1
|
UTSW |
10 |
3,914,074 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0068:Plekhg1
|
UTSW |
10 |
3,890,504 (GRCm39) |
nonsense |
probably null |
|
|
R0068:Plekhg1
|
UTSW |
10 |
3,890,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0333:Plekhg1
|
UTSW |
10 |
3,914,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Plekhg1
|
UTSW |
10 |
3,914,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0499:Plekhg1
|
UTSW |
10 |
3,887,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Plekhg1
|
UTSW |
10 |
3,887,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Plekhg1
|
UTSW |
10 |
3,890,538 (GRCm39) |
splice site |
probably benign |
|
|
R1501:Plekhg1
|
UTSW |
10 |
3,907,361 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1565:Plekhg1
|
UTSW |
10 |
3,890,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Plekhg1
|
UTSW |
10 |
3,913,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Plekhg1
|
UTSW |
10 |
3,853,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1858:Plekhg1
|
UTSW |
10 |
3,895,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1984:Plekhg1
|
UTSW |
10 |
3,908,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Plekhg1
|
UTSW |
10 |
3,908,048 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2421:Plekhg1
|
UTSW |
10 |
3,908,048 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2422:Plekhg1
|
UTSW |
10 |
3,908,048 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2437:Plekhg1
|
UTSW |
10 |
3,913,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Plekhg1
|
UTSW |
10 |
3,913,982 (GRCm39) |
missense |
probably benign |
|
|
R2872:Plekhg1
|
UTSW |
10 |
3,913,982 (GRCm39) |
missense |
probably benign |
|
|
R3830:Plekhg1
|
UTSW |
10 |
3,823,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Plekhg1
|
UTSW |
10 |
3,907,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Plekhg1
|
UTSW |
10 |
3,906,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4731:Plekhg1
|
UTSW |
10 |
3,907,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Plekhg1
|
UTSW |
10 |
3,907,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4733:Plekhg1
|
UTSW |
10 |
3,907,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4772:Plekhg1
|
UTSW |
10 |
3,823,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Plekhg1
|
UTSW |
10 |
3,823,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4803:Plekhg1
|
UTSW |
10 |
3,907,186 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5086:Plekhg1
|
UTSW |
10 |
3,853,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Plekhg1
|
UTSW |
10 |
3,915,516 (GRCm39) |
unclassified |
probably benign |
|
|
R5283:Plekhg1
|
UTSW |
10 |
3,906,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5862:Plekhg1
|
UTSW |
10 |
3,887,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Plekhg1
|
UTSW |
10 |
3,914,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:Plekhg1
|
UTSW |
10 |
3,914,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Plekhg1
|
UTSW |
10 |
3,907,373 (GRCm39) |
missense |
probably benign |
|
|
R6930:Plekhg1
|
UTSW |
10 |
3,913,770 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7033:Plekhg1
|
UTSW |
10 |
3,890,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7200:Plekhg1
|
UTSW |
10 |
3,906,810 (GRCm39) |
missense |
|
|
|
R7223:Plekhg1
|
UTSW |
10 |
3,823,343 (GRCm39) |
missense |
|
|
|
R7353:Plekhg1
|
UTSW |
10 |
3,914,327 (GRCm39) |
missense |
|
|
|
R7488:Plekhg1
|
UTSW |
10 |
3,907,491 (GRCm39) |
missense |
|
|
|
R7554:Plekhg1
|
UTSW |
10 |
3,913,647 (GRCm39) |
missense |
|
|
|
R7929:Plekhg1
|
UTSW |
10 |
3,869,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8014:Plekhg1
|
UTSW |
10 |
3,907,758 (GRCm39) |
missense |
|
|
|
R8104:Plekhg1
|
UTSW |
10 |
3,902,326 (GRCm39) |
missense |
|
|
|
R8167:Plekhg1
|
UTSW |
10 |
3,907,453 (GRCm39) |
missense |
|
|
|
R8167:Plekhg1
|
UTSW |
10 |
3,907,452 (GRCm39) |
missense |
|
|
|
R8215:Plekhg1
|
UTSW |
10 |
3,907,521 (GRCm39) |
missense |
|
|
|
R8263:Plekhg1
|
UTSW |
10 |
3,907,651 (GRCm39) |
missense |
|
|
|
R8682:Plekhg1
|
UTSW |
10 |
3,897,523 (GRCm39) |
missense |
|
|
|
R8746:Plekhg1
|
UTSW |
10 |
3,907,777 (GRCm39) |
missense |
|
|
|
R9148:Plekhg1
|
UTSW |
10 |
3,907,527 (GRCm39) |
missense |
|
|
|
R9220:Plekhg1
|
UTSW |
10 |
3,913,805 (GRCm39) |
missense |
|
|
|
R9245:Plekhg1
|
UTSW |
10 |
3,907,141 (GRCm39) |
missense |
|
|
|
R9520:Plekhg1
|
UTSW |
10 |
3,906,822 (GRCm39) |
missense |
|
|
|
R9778:Plekhg1
|
UTSW |
10 |
3,887,966 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTAGTGCAGGTGAAAGC -3'
(R):5'- ACTTCCTGGTGTTCATGTACG -3'
Sequencing Primer
(F):5'- CAACGCATGCCCTCCTG -3'
(R):5'- ATGCCTCTTGACCACCGAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation