Incidental Mutation 'R1501:Plekhg1'
| ID |
169279 |
| 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 |
040867-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R1501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3907361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 759
(D759E)
|
| 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: D759E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: D759E
| 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: D759E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: D759E
| 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: D814E
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: D814E
| 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: D613E
|
| SMART Domains |
Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: D613E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
T |
14: 78,750,787 (GRCm39) |
S533R |
probably benign |
Het |
| Amph |
C |
T |
13: 19,288,461 (GRCm39) |
Q317* |
probably null |
Het |
| Bach2 |
A |
G |
4: 32,562,279 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,703,137 (GRCm39) |
C845R |
probably damaging |
Het |
| Calml4 |
A |
G |
9: 62,778,622 (GRCm39) |
K12E |
probably benign |
Het |
| Chrd |
C |
T |
16: 20,556,283 (GRCm39) |
R615W |
probably damaging |
Het |
| Chst15 |
T |
A |
7: 131,870,798 (GRCm39) |
K246* |
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,235 (GRCm39) |
D182N |
probably benign |
Het |
| Cyp2d9 |
C |
A |
15: 82,338,525 (GRCm39) |
C186* |
probably null |
Het |
| Cyp3a13 |
G |
T |
5: 137,909,892 (GRCm39) |
|
probably null |
Het |
| Dcaf17 |
A |
T |
2: 70,912,332 (GRCm39) |
I320F |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,145,297 (GRCm39) |
I227V |
possibly damaging |
Het |
| Dlc1 |
G |
T |
8: 37,405,302 (GRCm39) |
N162K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,317,670 (GRCm39) |
R455H |
probably benign |
Het |
| Drg2 |
G |
T |
11: 60,355,679 (GRCm39) |
A306S |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,465,076 (GRCm39) |
R422S |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,766,452 (GRCm39) |
V353A |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,617,756 (GRCm39) |
S34G |
probably benign |
Het |
| Enpp2 |
C |
A |
15: 54,702,910 (GRCm39) |
W862L |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,119,485 (GRCm39) |
I139V |
probably benign |
Het |
| Fhad1 |
C |
T |
4: 141,691,936 (GRCm39) |
R400H |
probably benign |
Het |
| Fv1 |
C |
T |
4: 147,954,595 (GRCm39) |
T387M |
probably damaging |
Het |
| Gatad1 |
T |
A |
5: 3,693,701 (GRCm39) |
D156V |
probably damaging |
Het |
| Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
| Gm4799 |
G |
A |
10: 82,790,469 (GRCm39) |
|
noncoding transcript |
Het |
| Hadha |
A |
G |
5: 30,333,804 (GRCm39) |
F405S |
probably benign |
Het |
| Ifit3 |
T |
C |
19: 34,565,651 (GRCm39) |
V399A |
probably benign |
Het |
| Il1rapl1 |
G |
T |
X: 86,348,469 (GRCm39) |
Y150* |
probably null |
Het |
| Kirrel1 |
T |
C |
3: 86,997,779 (GRCm39) |
E248G |
probably benign |
Het |
| Krt72 |
C |
A |
15: 101,686,769 (GRCm39) |
K392N |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,444,528 (GRCm39) |
G309D |
probably damaging |
Het |
| Mc3r |
T |
G |
2: 172,091,300 (GRCm39) |
I174S |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,282,273 (GRCm39) |
D52G |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,168,256 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,325,378 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
A |
T |
7: 64,039,252 (GRCm39) |
F239L |
probably damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,023 (GRCm39) |
S13P |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,323 (GRCm39) |
T527A |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,046,885 (GRCm39) |
H1156Y |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 68,989,129 (GRCm39) |
E120G |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,779,706 (GRCm39) |
E624G |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,767,079 (GRCm39) |
D99G |
probably null |
Het |
| Or4c102 |
G |
A |
2: 88,422,492 (GRCm39) |
V115I |
possibly damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,539 (GRCm39) |
I45T |
probably damaging |
Het |
| Or52n4b |
G |
A |
7: 108,143,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or5p70 |
A |
C |
7: 107,995,289 (GRCm39) |
K321Q |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,598,146 (GRCm39) |
N802S |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,789,796 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,304,443 (GRCm39) |
I1670N |
possibly damaging |
Het |
| Pld5 |
A |
G |
1: 175,803,087 (GRCm39) |
F393L |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,277,888 (GRCm39) |
S403P |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,510,503 (GRCm39) |
F432L |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,664,230 (GRCm39) |
I406T |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,739,623 (GRCm39) |
D185E |
probably benign |
Het |
| Rad50 |
G |
T |
11: 53,578,978 (GRCm39) |
Q527K |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,530,507 (GRCm39) |
F613L |
probably benign |
Het |
| Sec16a |
T |
A |
2: 26,330,057 (GRCm39) |
M653L |
probably benign |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,920 (GRCm39) |
|
probably null |
Het |
| Slc22a3 |
G |
A |
17: 12,725,991 (GRCm39) |
T74I |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,932,057 (GRCm39) |
L272P |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,536 (GRCm39) |
D869G |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,859,731 (GRCm39) |
V291E |
probably damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,832,167 (GRCm39) |
A470S |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,894,006 (GRCm39) |
S878P |
probably damaging |
Het |
| Smchd1 |
A |
G |
17: 71,672,089 (GRCm39) |
M1655T |
possibly damaging |
Het |
| Srgap2 |
A |
G |
1: 131,220,437 (GRCm39) |
L179P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,622 (GRCm39) |
D191G |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,796,351 (GRCm39) |
Y485H |
probably damaging |
Het |
| Trim12c |
T |
A |
7: 103,990,095 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,170 (GRCm39) |
T213A |
probably damaging |
Het |
| Upp1 |
T |
A |
11: 9,084,708 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,198 (GRCm39) |
I16L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,850 (GRCm39) |
D214E |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,118 (GRCm39) |
Y177N |
probably damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,582,521 (GRCm39) |
I42S |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,761,399 (GRCm39) |
K232N |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,875,603 (GRCm39) |
I494T |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,143 (GRCm39) |
D38G |
probably damaging |
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 |
|
|
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 |
|
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'- AAGAGAACGCTTCAAGTCGCCC -3'
(R):5'- TTTGTCGGACAGAGCCTTATCTGC -3'
Sequencing Primer
(F):5'- AGCTCTGGTCACAGGATAGTC -3'
(R):5'- TCTGCAATAGGCAGATTACAGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation