Incidental Mutation 'PIT4453001:Plekhg1'
ID |
555333 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
PIT4453001 (G1)
|
Quality Score |
109.008 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 3913469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1119
(Q1119K)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
AlphaFold |
A0A5F8MPP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042438
AA Change: Q1064K
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000040495 Gene: ENSMUSG00000040624 AA Change: Q1064K
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: Q1064K
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000114056 Gene: ENSMUSG00000040624 AA Change: Q1064K
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: Q1119K
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: Q918K
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: 93.3%
- 3x: 90.9%
- 10x: 85.6%
- 20x: 74.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
G |
3: 121,898,965 (GRCm39) |
I649S |
probably damaging |
Het |
Abcc2 |
T |
A |
19: 43,792,221 (GRCm39) |
L334* |
probably null |
Het |
Adam28 |
A |
T |
14: 68,872,325 (GRCm39) |
S306T |
probably benign |
Het |
Adam34 |
T |
A |
8: 44,104,349 (GRCm39) |
D432V |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,050,264 (GRCm39) |
Y723C |
probably benign |
Het |
Adgre5 |
T |
A |
8: 84,451,089 (GRCm39) |
M713L |
probably benign |
Het |
Aebp2 |
C |
A |
6: 140,583,412 (GRCm39) |
C295* |
probably null |
Het |
Amn1 |
G |
T |
6: 149,072,357 (GRCm39) |
Q127K |
probably benign |
Het |
Atcay |
C |
T |
10: 81,046,383 (GRCm39) |
V314M |
probably damaging |
Het |
Atp1a1 |
T |
C |
3: 101,488,495 (GRCm39) |
E847G |
probably benign |
Het |
Atp2b1 |
A |
G |
10: 98,852,840 (GRCm39) |
E1039G |
probably benign |
Het |
Caskin1 |
A |
G |
17: 24,718,266 (GRCm39) |
Y292C |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,214,105 (GRCm39) |
T94A |
probably damaging |
Het |
Ciart |
T |
A |
3: 95,787,788 (GRCm39) |
K182M |
probably damaging |
Het |
Col1a2 |
A |
C |
6: 4,527,079 (GRCm39) |
S603R |
possibly damaging |
Het |
Cspp1 |
C |
A |
1: 10,145,097 (GRCm39) |
S298R |
possibly damaging |
Het |
Cul7 |
T |
A |
17: 46,962,746 (GRCm39) |
C126S |
probably damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
Cypt4 |
G |
C |
9: 24,536,770 (GRCm39) |
A87P |
probably damaging |
Het |
Disp2 |
G |
A |
2: 118,618,125 (GRCm39) |
V224M |
probably benign |
Het |
Dlgap5 |
TTC |
T |
14: 47,638,979 (GRCm39) |
|
probably null |
Het |
Dock1 |
A |
G |
7: 134,754,029 (GRCm39) |
K1602R |
probably benign |
Het |
Ears2 |
T |
C |
7: 121,647,562 (GRCm39) |
I241V |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,752,489 (GRCm39) |
T975A |
probably damaging |
Het |
Ephb2 |
T |
C |
4: 136,388,121 (GRCm39) |
T660A |
probably benign |
Het |
Fbxw7 |
G |
A |
3: 84,872,621 (GRCm39) |
V268M |
|
Het |
Gart |
A |
G |
16: 91,433,426 (GRCm39) |
F289S |
probably damaging |
Het |
Gmcl1 |
G |
T |
6: 86,681,520 (GRCm39) |
N391K |
probably benign |
Het |
Greb1l |
A |
C |
18: 10,533,031 (GRCm39) |
Q975P |
probably damaging |
Het |
Greb1l |
G |
T |
18: 10,533,032 (GRCm39) |
Q975H |
probably benign |
Het |
Grik5 |
C |
A |
7: 24,710,119 (GRCm39) |
R872L |
probably damaging |
Het |
Hmox2 |
T |
A |
16: 4,582,921 (GRCm39) |
I218N |
probably damaging |
Het |
Hook1 |
A |
T |
4: 95,903,089 (GRCm39) |
D526V |
probably damaging |
Het |
Ifna4 |
A |
T |
4: 88,760,191 (GRCm39) |
N32Y |
probably damaging |
Het |
Ighg2b |
T |
A |
12: 113,270,492 (GRCm39) |
N213Y |
unknown |
Het |
Itih4 |
G |
A |
14: 30,623,127 (GRCm39) |
V900I |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,274,671 (GRCm39) |
F837Y |
probably damaging |
Het |
Kif3a |
T |
C |
11: 53,469,941 (GRCm39) |
V147A |
probably benign |
Het |
Klra9 |
T |
A |
6: 130,168,284 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
G |
T |
16: 19,492,210 (GRCm39) |
Q345K |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,807,822 (GRCm39) |
E1188K |
probably damaging |
Het |
Med1 |
T |
A |
11: 98,049,243 (GRCm39) |
I518L |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,205,447 (GRCm39) |
T242A |
probably damaging |
Het |
Nemp1 |
T |
A |
10: 127,532,123 (GRCm39) |
F392Y |
probably benign |
Het |
Obscn |
C |
A |
11: 58,951,802 (GRCm39) |
G3984W |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,960,660 (GRCm39) |
H3217L |
possibly damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,823 (GRCm39) |
M74T |
probably benign |
Het |
Or13j1 |
A |
G |
4: 43,706,464 (GRCm39) |
Y35H |
probably damaging |
Het |
Or2d3b |
C |
T |
7: 106,514,136 (GRCm39) |
H244Y |
probably damaging |
Het |
Or2d3c |
T |
C |
7: 106,526,049 (GRCm39) |
I206V |
probably benign |
Het |
Or5l14 |
C |
T |
2: 87,792,802 (GRCm39) |
V145M |
possibly damaging |
Het |
P4ha1 |
G |
T |
10: 59,186,294 (GRCm39) |
A258S |
probably benign |
Het |
Parn |
T |
C |
16: 13,425,145 (GRCm39) |
I423V |
probably benign |
Het |
Pcdh20 |
C |
A |
14: 88,704,744 (GRCm39) |
S852I |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,722,784 (GRCm39) |
|
probably null |
Het |
Pcsk1 |
A |
T |
13: 75,260,769 (GRCm39) |
I331F |
probably damaging |
Het |
Pkd1l2 |
G |
T |
8: 117,748,761 (GRCm39) |
S1803R |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,387,433 (GRCm39) |
N1792K |
probably damaging |
Het |
Prr30 |
T |
A |
14: 101,436,371 (GRCm39) |
T64S |
probably benign |
Het |
Rec114 |
T |
C |
9: 58,567,653 (GRCm39) |
N111S |
probably benign |
Het |
Reck |
G |
A |
4: 43,895,850 (GRCm39) |
V79I |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,386,231 (GRCm39) |
F276L |
probably damaging |
Het |
Rgs6 |
T |
C |
12: 83,138,553 (GRCm39) |
Y296H |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,197,793 (GRCm39) |
R2149G |
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,025,398 (GRCm39) |
F33L |
probably damaging |
Het |
Spopl |
T |
A |
2: 23,435,461 (GRCm39) |
T25S |
probably damaging |
Het |
Srcap |
A |
T |
7: 127,148,492 (GRCm39) |
I1947F |
possibly damaging |
Het |
Srek1 |
A |
C |
13: 103,881,291 (GRCm39) |
|
probably null |
Het |
St8sia1 |
C |
T |
6: 142,774,978 (GRCm39) |
W200* |
probably null |
Het |
Tas2r106 |
A |
T |
6: 131,655,465 (GRCm39) |
F129I |
possibly damaging |
Het |
Tbrg4 |
A |
T |
11: 6,570,857 (GRCm39) |
L205Q |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,353,187 (GRCm39) |
R876S |
unknown |
Het |
Thap12 |
G |
T |
7: 98,364,245 (GRCm39) |
A138S |
probably benign |
Het |
Tjp1 |
C |
T |
7: 64,993,362 (GRCm39) |
|
probably null |
Het |
Traf4 |
G |
A |
11: 78,052,360 (GRCm39) |
P95L |
probably benign |
Het |
Trappc9 |
ATCTC |
ATCTCTC |
15: 72,903,447 (GRCm39) |
|
probably null |
Het |
Usp20 |
G |
A |
2: 30,907,498 (GRCm39) |
V677M |
possibly damaging |
Het |
Usp50 |
C |
A |
2: 126,625,236 (GRCm39) |
|
probably benign |
Het |
Vmn1r21 |
T |
C |
6: 57,821,307 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,363,669 (GRCm39) |
H408L |
probably benign |
Het |
Zfp266 |
T |
C |
9: 20,417,299 (GRCm39) |
T30A |
probably benign |
Het |
Zfp536 |
T |
C |
7: 37,179,182 (GRCm39) |
H1141R |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCATTTAGTGACTACTCCCC -3'
(R):5'- CTGATTGCTTTGCGACCCAG -3'
Sequencing Primer
(F):5'- CATTTAGTGACTACTCCCCTTTAATC -3'
(R):5'- AGAGGACTCTGACCTGAGTTC -3'
|
Posted On |
2019-06-07 |