Incidental Mutation 'IGL02730:Plekhg1'
| ID |
305412 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhg1
|
| Ensembl Gene |
ENSMUSG00000040624 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 1 |
| Synonyms |
D10Ertd733e |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
IGL02730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3823242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 70
(D70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042438
AA Change: D70G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: D70G
| 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 |
noncoding transcript
Transcript: ENSMUST00000117631
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120274
AA Change: D70G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: D70G
| 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: D125G
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: D125G
| 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 |
noncoding transcript
Transcript: ENSMUST00000137111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144543
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
A |
5: 114,304,210 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,752,995 (GRCm39) |
V651E |
probably damaging |
Het |
| BC051665 |
G |
A |
13: 60,932,826 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,912,644 (GRCm39) |
G265S |
probably benign |
Het |
| Dsg1c |
A |
C |
18: 20,407,887 (GRCm39) |
D411A |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,362,622 (GRCm39) |
I70T |
possibly damaging |
Het |
| Fgf20 |
T |
A |
8: 40,732,828 (GRCm39) |
L203F |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,215,390 (GRCm39) |
V316E |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,372 (GRCm39) |
D620E |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,142,709 (GRCm39) |
T215A |
probably damaging |
Het |
| Irgm2 |
T |
A |
11: 58,110,816 (GRCm39) |
M169K |
probably benign |
Het |
| Kcns3 |
A |
G |
12: 11,142,076 (GRCm39) |
S208P |
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,235,506 (GRCm39) |
M870K |
probably damaging |
Het |
| Mapk1ip1l |
C |
T |
14: 47,548,377 (GRCm39) |
T175I |
possibly damaging |
Het |
| Meig1 |
A |
G |
2: 3,412,947 (GRCm39) |
Y25H |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,685 (GRCm39) |
F296S |
probably damaging |
Het |
| Or10d1b |
C |
T |
9: 39,613,534 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,750 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,275 (GRCm39) |
L135P |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,432 (GRCm39) |
L20F |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,443 (GRCm39) |
V212M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,567,985 (GRCm39) |
I228F |
probably damaging |
Het |
| Or6z3 |
T |
C |
7: 6,464,123 (GRCm39) |
I205T |
possibly damaging |
Het |
| Or8s8 |
A |
G |
15: 98,354,317 (GRCm39) |
N42S |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,704,217 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
C |
T |
14: 75,287,588 (GRCm39) |
T624M |
probably damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,860,019 (GRCm39) |
H317Y |
probably benign |
Het |
| Sec22a |
T |
C |
16: 35,134,470 (GRCm39) |
D282G |
probably damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,922 (GRCm39) |
F126L |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,827,598 (GRCm39) |
D399G |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,219,896 (GRCm39) |
Y383H |
probably benign |
Het |
| Speer3 |
T |
A |
5: 13,843,285 (GRCm39) |
M64K |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stx1b |
C |
A |
7: 127,414,549 (GRCm39) |
R25L |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,545,356 (GRCm39) |
V181A |
probably damaging |
Het |
| Tspoap1 |
G |
T |
11: 87,672,535 (GRCm39) |
V1788F |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,880,646 (GRCm39) |
T427A |
possibly damaging |
Het |
| Vmn1r233 |
A |
G |
17: 21,214,057 (GRCm39) |
S298P |
possibly damaging |
Het |
| Xntrpc |
T |
C |
7: 101,731,319 (GRCm39) |
S353P |
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 |
|
|
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 |
|
|
|
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 |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation