Incidental Mutation 'IGL02420:Plekhg1'
ID |
292626 |
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 # |
IGL02420
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3914106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1276
(N1276S)
|
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: N1276S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040495 Gene: ENSMUSG00000040624 AA Change: N1276S
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: N1276S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114056 Gene: ENSMUSG00000040624 AA Change: N1276S
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: N1331S
|
SMART Domains |
Protein: ENSMUSP00000119950 Gene: ENSMUSG00000040624 AA Change: N1331S
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: N1130S
|
SMART Domains |
Protein: ENSMUSP00000122131 Gene: ENSMUSG00000040624 AA Change: N1130S
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 |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,187,494 (GRCm39) |
N136S |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,659,303 (GRCm39) |
S496P |
probably damaging |
Het |
Agbl3 |
T |
A |
6: 34,762,242 (GRCm39) |
S81T |
possibly damaging |
Het |
Apobec1 |
A |
T |
6: 122,558,531 (GRCm39) |
Y75N |
probably benign |
Het |
Asic2 |
A |
G |
11: 80,772,479 (GRCm39) |
L517P |
probably benign |
Het |
Atp8a1 |
A |
G |
5: 67,840,126 (GRCm39) |
S752P |
probably damaging |
Het |
Blm |
T |
C |
7: 80,145,754 (GRCm39) |
Y775C |
probably damaging |
Het |
C1qtnf5 |
T |
C |
9: 44,019,901 (GRCm39) |
I175T |
probably benign |
Het |
Ccdc81 |
G |
A |
7: 89,524,946 (GRCm39) |
T545I |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,834,317 (GRCm39) |
E174G |
probably damaging |
Het |
Chl1 |
G |
A |
6: 103,692,330 (GRCm39) |
V1066M |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,823,103 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyren |
T |
C |
6: 34,851,404 (GRCm39) |
Y150C |
probably damaging |
Het |
Cysrt1 |
T |
C |
2: 25,129,360 (GRCm39) |
I51V |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,725,702 (GRCm39) |
N69S |
probably benign |
Het |
Fam83d |
T |
C |
2: 158,627,655 (GRCm39) |
L448P |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
Inppl1 |
G |
A |
7: 101,481,526 (GRCm39) |
|
probably benign |
Het |
Iqcc |
T |
C |
4: 129,510,748 (GRCm39) |
T256A |
probably benign |
Het |
Itprid2 |
T |
C |
2: 79,465,986 (GRCm39) |
S35P |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Lyz1 |
A |
T |
10: 117,124,535 (GRCm39) |
C134S |
probably damaging |
Het |
Mpzl3 |
T |
C |
9: 44,977,815 (GRCm39) |
I141T |
possibly damaging |
Het |
Mterf1a |
T |
C |
5: 3,941,047 (GRCm39) |
N274D |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,709,519 (GRCm39) |
V543D |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,975,852 (GRCm39) |
D1332E |
possibly damaging |
Het |
Or2r11 |
A |
G |
6: 42,437,110 (GRCm39) |
V281A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,138,938 (GRCm39) |
D333V |
probably damaging |
Het |
Plekha7 |
A |
G |
7: 115,757,469 (GRCm39) |
Y494H |
probably damaging |
Het |
Ppig |
T |
C |
2: 69,562,571 (GRCm39) |
V5A |
probably benign |
Het |
Prag1 |
A |
T |
8: 36,614,580 (GRCm39) |
|
probably benign |
Het |
Prom1 |
T |
C |
5: 44,220,496 (GRCm39) |
N84S |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,583,929 (GRCm39) |
Y221F |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,731 (GRCm39) |
Y162H |
probably benign |
Het |
Rab2a |
C |
T |
4: 8,572,553 (GRCm39) |
T49M |
possibly damaging |
Het |
Ring1 |
A |
G |
17: 34,242,122 (GRCm39) |
S96P |
possibly damaging |
Het |
Ripk3 |
A |
G |
14: 56,022,691 (GRCm39) |
F411S |
probably benign |
Het |
Rock1 |
T |
C |
18: 10,070,619 (GRCm39) |
|
probably null |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,645 (GRCm39) |
N359S |
probably damaging |
Het |
Sufu |
A |
G |
19: 46,413,481 (GRCm39) |
T76A |
probably damaging |
Het |
Sugct |
C |
A |
13: 17,627,053 (GRCm39) |
V267F |
probably damaging |
Het |
Tcf4 |
A |
T |
18: 69,697,210 (GRCm39) |
R29W |
probably damaging |
Het |
Tnfsf18 |
A |
T |
1: 161,331,158 (GRCm39) |
I103L |
probably benign |
Het |
Vwf |
A |
G |
6: 125,654,879 (GRCm39) |
E2525G |
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 |
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 |
|
|
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 |