Incidental Mutation 'R7353:Plekhg1'
ID |
570751 |
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 |
045439-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R7353 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3914327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1405
(T1405S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
AlphaFold |
A0A5F8MPP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042438
AA Change: T1350S
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000040495 Gene: ENSMUSG00000040624 AA Change: T1350S
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: T1350S
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000114056 Gene: ENSMUSG00000040624 AA Change: T1350S
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 |
|
SMART Domains |
Protein: ENSMUSP00000119950 Gene: ENSMUSG00000040624 AA Change: T1405S
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 |
|
SMART Domains |
Protein: ENSMUSP00000122131 Gene: ENSMUSG00000040624 AA Change: T1204S
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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
A |
13: 119,624,714 (GRCm39) |
A11S |
unknown |
Het |
Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,546,731 (GRCm39) |
I1369F |
probably damaging |
Het |
Adgrf3 |
T |
A |
5: 30,403,495 (GRCm39) |
I427F |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
Arhgef2 |
T |
A |
3: 88,542,993 (GRCm39) |
V397E |
possibly damaging |
Het |
Arhgef28 |
T |
A |
13: 98,211,710 (GRCm39) |
Y91F |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,306,341 (GRCm39) |
T454A |
probably benign |
Het |
Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
Boc |
C |
T |
16: 44,306,100 (GRCm39) |
V1070M |
unknown |
Het |
Ccdc88a |
T |
A |
11: 29,413,368 (GRCm39) |
N635K |
probably benign |
Het |
Ccr2 |
T |
C |
9: 123,906,793 (GRCm39) |
S358P |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,663,100 (GRCm39) |
Q28R |
possibly damaging |
Het |
Cenpf |
T |
A |
1: 189,386,335 (GRCm39) |
K1982* |
probably null |
Het |
Csn1s2a |
A |
T |
5: 87,933,161 (GRCm39) |
I137F |
possibly damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,375,943 (GRCm39) |
I1532K |
possibly damaging |
Het |
Dnajc13 |
C |
A |
9: 104,107,230 (GRCm39) |
R304L |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,394,912 (GRCm39) |
M664K |
probably damaging |
Het |
Emilin3 |
T |
A |
2: 160,750,741 (GRCm39) |
E336V |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,791,683 (GRCm39) |
Y63H |
|
Het |
Fbxo41 |
G |
T |
6: 85,456,958 (GRCm39) |
R404S |
possibly damaging |
Het |
Gpr155 |
A |
T |
2: 73,197,835 (GRCm39) |
Y456* |
probably null |
Het |
Gpr156 |
T |
A |
16: 37,812,523 (GRCm39) |
N286K |
probably damaging |
Het |
Kcna5 |
A |
G |
6: 126,511,808 (GRCm39) |
S107P |
probably benign |
Het |
Kcne2 |
A |
T |
16: 92,093,710 (GRCm39) |
H79L |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,648,025 (GRCm39) |
M113L |
probably benign |
Het |
Lad1 |
T |
A |
1: 135,755,513 (GRCm39) |
L263Q |
probably damaging |
Het |
Lctl |
G |
A |
9: 64,034,249 (GRCm39) |
G296D |
probably damaging |
Het |
Lmtk3 |
A |
T |
7: 45,437,424 (GRCm39) |
I205F |
possibly damaging |
Het |
Magel2 |
G |
T |
7: 62,029,079 (GRCm39) |
R661L |
unknown |
Het |
Mcm10 |
G |
A |
2: 5,011,920 (GRCm39) |
P180S |
possibly damaging |
Het |
Mia3 |
G |
T |
1: 183,108,247 (GRCm39) |
A446D |
|
Het |
N4bp2 |
G |
A |
5: 65,963,714 (GRCm39) |
V588M |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,436,259 (GRCm39) |
V755M |
probably benign |
Het |
Neurl1a |
T |
C |
19: 47,229,099 (GRCm39) |
V213A |
probably damaging |
Het |
Nrdc |
A |
G |
4: 108,896,946 (GRCm39) |
T522A |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 110,042,763 (GRCm39) |
Q21R |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,534,296 (GRCm39) |
L707S |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,876,587 (GRCm39) |
V452D |
probably damaging |
Het |
Or10a3n |
A |
G |
7: 108,493,429 (GRCm39) |
F67L |
probably damaging |
Het |
Or1j1 |
A |
G |
2: 36,702,915 (GRCm39) |
L63P |
probably damaging |
Het |
Or1j4 |
A |
T |
2: 36,740,081 (GRCm39) |
M8L |
probably benign |
Het |
Or1n1 |
G |
A |
2: 36,749,680 (GRCm39) |
R227* |
probably null |
Het |
Or52s1 |
A |
C |
7: 102,861,516 (GRCm39) |
T150P |
probably damaging |
Het |
Pnrc1 |
G |
A |
4: 33,248,300 (GRCm39) |
P33L |
probably damaging |
Het |
Prkag2 |
A |
T |
5: 25,085,684 (GRCm39) |
V312E |
possibly damaging |
Het |
Rps17 |
T |
A |
7: 80,994,093 (GRCm39) |
E76V |
possibly damaging |
Het |
Rsph10b |
G |
A |
5: 143,904,038 (GRCm39) |
G672S |
possibly damaging |
Het |
Slc2a13 |
T |
C |
15: 91,205,807 (GRCm39) |
N460S |
probably benign |
Het |
Slco2b1 |
A |
T |
7: 99,339,764 (GRCm39) |
C56S |
possibly damaging |
Het |
Speer1f |
G |
A |
5: 11,466,403 (GRCm39) |
D7N |
possibly damaging |
Het |
Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
Sult2a8 |
T |
C |
7: 14,147,640 (GRCm39) |
N217S |
possibly damaging |
Het |
Tbx2 |
C |
A |
11: 85,724,315 (GRCm39) |
T128N |
probably damaging |
Het |
Tecpr2 |
A |
T |
12: 110,934,278 (GRCm39) |
M1313L |
probably benign |
Het |
Tmc2 |
G |
A |
2: 130,038,497 (GRCm39) |
|
probably null |
Het |
Tstd1 |
G |
T |
1: 171,247,523 (GRCm39) |
A69S |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,638,567 (GRCm39) |
D252G |
probably benign |
Het |
Ulk2 |
T |
C |
11: 61,710,174 (GRCm39) |
N345D |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,481,355 (GRCm39) |
D1694G |
probably benign |
Het |
Vill |
T |
C |
9: 118,894,561 (GRCm39) |
V406A |
probably damaging |
Het |
Vmn2r115 |
T |
C |
17: 23,564,887 (GRCm39) |
V258A |
possibly damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,232,452 (GRCm39) |
M817K |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,315,088 (GRCm39) |
S263P |
probably benign |
Het |
Zfp980 |
A |
G |
4: 145,428,714 (GRCm39) |
D481G |
probably benign |
Het |
Zmpste24 |
A |
G |
4: 120,952,778 (GRCm39) |
S81P |
probably damaging |
Het |
Znrf4 |
A |
G |
17: 56,819,169 (GRCm39) |
V46A |
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 |
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 |
|
|
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'- AGCGACGCAGAACTACTTTTG -3'
(R):5'- GGTAATTTGTAAGCCTAGGGAGC -3'
Sequencing Primer
(F):5'- TGTAATTTCAAAGATCCCGAGGG -3'
(R):5'- CCTAGGGAGCTAATTTGGACAGTTC -3'
|
Posted On |
2019-09-13 |