Incidental Mutation 'R2421:Plekhg1'
| ID |
249295 |
| 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 |
040383-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R2421 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3908048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 988
(M988I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042438
AA Change: M988I
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: M988I
| 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: M988I
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: M988I
| 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: M1043I
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: M1043I
| 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 |
unknown
Transcript: ENSMUST00000141367
AA Change: M52I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154727
AA Change: M842I
|
| SMART Domains |
Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: M842I
| 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 |
0.0738 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (81/84) |
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,386,166 (GRCm39) |
L1118Q |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,085,872 (GRCm39) |
E57G |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,687 (GRCm39) |
S1036G |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,818,034 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,646,722 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,793,646 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,585 (GRCm39) |
V874D |
probably damaging |
Het |
| Arhgap39 |
T |
A |
15: 76,609,346 (GRCm39) |
T1025S |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,912,302 (GRCm39) |
C519S |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,416,225 (GRCm39) |
V1512M |
possibly damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,168,643 (GRCm39) |
T449A |
probably benign |
Het |
| Atxn2 |
A |
T |
5: 121,940,142 (GRCm39) |
|
probably null |
Het |
| Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
| Camk2d |
A |
G |
3: 126,574,064 (GRCm39) |
D157G |
probably damaging |
Het |
| Ccdc122 |
T |
C |
14: 77,329,103 (GRCm39) |
|
probably benign |
Het |
| Ccdc137 |
G |
A |
11: 120,353,090 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,647,996 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
G |
A |
1: 55,092,136 (GRCm39) |
A35T |
probably benign |
Het |
| Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,927,652 (GRCm39) |
I47V |
probably benign |
Het |
| Csgalnact1 |
A |
T |
8: 68,914,160 (GRCm39) |
I15N |
probably benign |
Het |
| Dcp1b |
A |
G |
6: 119,192,227 (GRCm39) |
Q381R |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
| Dnal1 |
C |
T |
12: 84,183,480 (GRCm39) |
Q80* |
probably null |
Het |
| Dtd2 |
A |
G |
12: 52,046,638 (GRCm39) |
V67A |
probably benign |
Het |
| Gart |
A |
G |
16: 91,439,928 (GRCm39) |
|
probably null |
Het |
| Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6327 |
T |
C |
16: 12,577,958 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
C |
13: 50,054,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr107 |
G |
A |
2: 31,075,541 (GRCm39) |
G351S |
probably damaging |
Het |
| H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,877 (GRCm39) |
L159Q |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
| Lenep |
G |
A |
3: 89,309,881 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 40,772,145 (GRCm39) |
|
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
| Lyn |
C |
T |
4: 3,748,787 (GRCm39) |
A255V |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,723,621 (GRCm39) |
I2519K |
probably damaging |
Het |
| Mmaa |
T |
A |
8: 80,008,061 (GRCm39) |
R59W |
probably damaging |
Het |
| Ms4a4b |
A |
G |
19: 11,432,061 (GRCm39) |
I61V |
possibly damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
| Or13a1 |
T |
A |
6: 116,470,674 (GRCm39) |
C35S |
probably benign |
Het |
| Or4c114 |
T |
C |
2: 88,905,336 (GRCm39) |
Y33C |
possibly damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
| Or5k8 |
T |
C |
16: 58,644,709 (GRCm39) |
D121G |
probably damaging |
Het |
| Pef1 |
C |
A |
4: 130,021,110 (GRCm39) |
C221* |
probably null |
Het |
| Pnliprp1 |
T |
A |
19: 58,732,517 (GRCm39) |
I460N |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,255,138 (GRCm39) |
N239S |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
A |
15: 10,319,343 (GRCm39) |
W91R |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,478,856 (GRCm39) |
|
probably null |
Het |
| Ptprt |
T |
A |
2: 162,119,960 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
T |
C |
5: 5,505,912 (GRCm39) |
Y123C |
probably benign |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,127 (GRCm39) |
F662S |
possibly damaging |
Het |
| Rgs6 |
C |
A |
12: 83,163,057 (GRCm39) |
T421K |
possibly damaging |
Het |
| Ryr2 |
T |
G |
13: 11,606,123 (GRCm39) |
Q4486H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,556,646 (GRCm39) |
|
probably benign |
Het |
| Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
| Synrg |
A |
G |
11: 83,900,050 (GRCm39) |
E674G |
probably damaging |
Het |
| Syt9 |
G |
A |
7: 107,035,988 (GRCm39) |
R335K |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,415 (GRCm39) |
N322S |
probably damaging |
Het |
| Tfb2m |
C |
A |
1: 179,361,231 (GRCm39) |
W252C |
possibly damaging |
Het |
| Tmub2 |
T |
A |
11: 102,178,581 (GRCm39) |
D161E |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Tyw1 |
A |
T |
5: 130,298,101 (GRCm39) |
H214L |
probably damaging |
Het |
| Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
| Vangl2 |
T |
C |
1: 171,835,526 (GRCm39) |
Y382C |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
| Vps13a |
T |
G |
19: 16,737,035 (GRCm39) |
I101L |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,415,385 (GRCm39) |
F792I |
probably damaging |
Het |
| Wdhd1 |
G |
A |
14: 47,496,041 (GRCm39) |
H608Y |
probably benign |
Het |
| Wdr48 |
T |
A |
9: 119,731,470 (GRCm39) |
I56K |
probably damaging |
Het |
| Xpo4 |
T |
C |
14: 57,866,960 (GRCm39) |
D194G |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
| Zfp821 |
T |
A |
8: 110,436,165 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,769,525 (GRCm39) |
Y1237C |
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 |
|
|
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 |
|
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'- GCCAACTGCTCCCTGGATAATG -3'
(R):5'- ACACGTGACTCTCGAGAAGG -3'
Sequencing Primer
(F):5'- GCTCCCTGGATAATGACATTATTTC -3'
(R):5'- CGTGACTCTCGAGAAGGAAGAAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation