Incidental Mutation 'R2872:Plekhg1'
| ID |
266683 |
| 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 |
040460-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R2872 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 3913982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1235
(S1235A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042438
AA Change: S1235A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: S1235A
| 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 benign
Transcript: ENSMUST00000120274
AA Change: S1235A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: S1235A
| 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: S1290A
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: S1290A
| 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: S1089A
|
| SMART Domains |
Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: S1089A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,201,530 (GRCm39) |
|
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,846,002 (GRCm39) |
C811R |
possibly damaging |
Het |
| Ak8 |
T |
C |
2: 28,632,732 (GRCm39) |
I317T |
possibly damaging |
Het |
| Akr1e1 |
G |
A |
13: 4,652,683 (GRCm39) |
|
silent |
Het |
| Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,025,093 (GRCm39) |
|
probably null |
Het |
| Arhgef10 |
A |
G |
8: 15,025,666 (GRCm39) |
I459V |
probably benign |
Het |
| Armc2 |
C |
T |
10: 41,842,696 (GRCm39) |
|
probably null |
Het |
| Atp12a |
A |
G |
14: 56,624,407 (GRCm39) |
R952G |
possibly damaging |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,258 (GRCm39) |
Y87C |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,229,051 (GRCm39) |
|
silent |
Het |
| Cilk1 |
A |
T |
9: 78,047,382 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,606,831 (GRCm39) |
F531I |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,451,511 (GRCm39) |
F113S |
unknown |
Het |
| Ctnnd1 |
C |
T |
2: 84,451,232 (GRCm39) |
V123I |
possibly damaging |
Het |
| Cyp4a14 |
C |
A |
4: 115,344,498 (GRCm39) |
G456W |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,315,559 (GRCm39) |
H260R |
possibly damaging |
Het |
| Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Homo |
| Gm21759 |
T |
A |
5: 8,230,863 (GRCm39) |
|
probably benign |
Het |
| Gm37340 |
G |
A |
2: 6,955,739 (GRCm39) |
|
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,812,585 (GRCm39) |
V307D |
probably damaging |
Het |
| Gpr35 |
G |
A |
1: 92,910,848 (GRCm39) |
V187I |
probably benign |
Het |
| Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
| Hdac10 |
G |
T |
15: 89,010,059 (GRCm39) |
Q300K |
possibly damaging |
Het |
| Hdhd2 |
T |
C |
18: 77,042,702 (GRCm39) |
F44L |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,415,205 (GRCm39) |
V1335I |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,233,519 (GRCm39) |
I340V |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,614,907 (GRCm39) |
E567G |
probably damaging |
Het |
| Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Homo |
| Knop1 |
T |
C |
7: 118,455,186 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
C |
A |
11: 61,381,038 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
T |
A |
18: 35,705,349 (GRCm39) |
S91R |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,624,487 (GRCm39) |
M2089K |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,743,610 (GRCm39) |
Y224H |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,388,495 (GRCm39) |
|
silent |
Het |
| Ndufs1 |
A |
G |
1: 63,203,882 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
T |
C |
16: 3,775,190 (GRCm39) |
D774G |
possibly damaging |
Het |
| Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
| Nox3 |
T |
C |
17: 3,733,191 (GRCm39) |
H240R |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,777,801 (GRCm39) |
T425A |
probably damaging |
Het |
| Or10g1 |
T |
G |
14: 52,648,318 (GRCm39) |
T4P |
probably benign |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Or1o4 |
A |
G |
17: 37,590,867 (GRCm39) |
V148A |
possibly damaging |
Het |
| Or52u1 |
T |
C |
7: 104,237,700 (GRCm39) |
S230P |
possibly damaging |
Het |
| Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,387,702 (GRCm39) |
N300K |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
| Paqr5 |
A |
T |
9: 61,876,061 (GRCm39) |
|
probably null |
Het |
| Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
| Pcdhga9 |
T |
A |
18: 37,870,524 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,764,903 (GRCm39) |
V1332I |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
| Plekhg5 |
T |
A |
4: 152,191,960 (GRCm39) |
C433S |
probably benign |
Het |
| Plin2 |
A |
G |
4: 86,586,915 (GRCm39) |
M1T |
probably null |
Het |
| Plxna3 |
T |
A |
X: 73,383,002 (GRCm39) |
|
probably benign |
Homo |
| Polg2 |
A |
G |
11: 106,666,251 (GRCm39) |
|
probably null |
Het |
| Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
| Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Homo |
| Prps1 |
C |
T |
X: 139,372,743 (GRCm39) |
|
probably benign |
Homo |
| Rapgef6 |
T |
A |
11: 54,552,001 (GRCm39) |
F956L |
probably damaging |
Het |
| Rasl12 |
A |
G |
9: 65,315,605 (GRCm39) |
N83S |
probably benign |
Het |
| Rel |
T |
C |
11: 23,711,129 (GRCm39) |
I13V |
probably benign |
Het |
| Reln |
C |
T |
5: 22,254,789 (GRCm39) |
V527I |
possibly damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,225 (GRCm39) |
W792* |
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,093,850 (GRCm39) |
L226R |
probably damaging |
Het |
| Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
| Slc6a9 |
T |
A |
4: 117,706,578 (GRCm39) |
M1K |
probably null |
Het |
| Smpdl3a |
T |
A |
10: 57,678,626 (GRCm39) |
F143Y |
possibly damaging |
Het |
| Son |
A |
G |
16: 91,461,205 (GRCm39) |
|
probably null |
Het |
| Spsb4 |
G |
T |
9: 96,878,071 (GRCm39) |
T84K |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,735 (GRCm39) |
F137I |
probably benign |
Het |
| Tgm7 |
G |
A |
2: 120,940,174 (GRCm39) |
|
probably benign |
Het |
| Tmem161a |
C |
T |
8: 70,631,565 (GRCm39) |
|
probably benign |
Het |
| Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,068,466 (GRCm39) |
Y16* |
probably null |
Het |
| Trpa1 |
A |
G |
1: 14,957,844 (GRCm39) |
C705R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,581,195 (GRCm39) |
S23233P |
probably damaging |
Het |
| Uevld |
T |
C |
7: 46,597,693 (GRCm39) |
D154G |
probably null |
Het |
| Zfp292 |
G |
A |
4: 34,808,595 (GRCm39) |
T1483M |
probably damaging |
Het |
| Zzz3 |
T |
A |
3: 152,152,481 (GRCm39) |
|
silent |
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 |
|
|
R3830:Plekhg1
|
UTSW |
10 |
3,823,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:Plekhg1
|
UTSW |
10 |
3,907,087 (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'- TTTACAACTCGCTGGGTCGC -3'
(R):5'- AGAGAGATCCAGACGCACTTC -3'
Sequencing Primer
(F):5'- CTGGGTCGCAAAGCAATCAGC -3'
(R):5'- CTGACTTGATTTCCACATAGTCATC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation