Incidental Mutation 'R4059:Plekhg1'
ID |
314389 |
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 |
040970-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R4059 (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: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
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 |
BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
Dgat1 |
G |
T |
15: 76,388,371 (GRCm39) |
A182D |
possibly damaging |
Het |
Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
Hsd3b7 |
T |
C |
7: 127,400,717 (GRCm39) |
I57T |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,688,786 (GRCm39) |
L589P |
probably damaging |
Het |
Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
Runx1t1 |
T |
C |
4: 13,889,769 (GRCm39) |
V566A |
probably benign |
Het |
Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
Tnip1 |
A |
G |
11: 54,802,395 (GRCm39) |
S638P |
probably benign |
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 |
Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
Zfp715 |
T |
C |
7: 42,951,155 (GRCm39) |
M48V |
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 |
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'- TTCCTGGTGTTCATGTACGC -3'
Sequencing Primer
(F):5'- CAACGCATGCCCTCCTG -3'
(R):5'- ATGCCTCTTGACCACCGAG -3'
|
Posted On |
2015-04-30 |