Incidental Mutation 'R8167:Plekhg1'
| ID |
633850 |
| 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 |
067593-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R8167 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3907453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 845
(S845N)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042438
AA Change: S790N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: S790N
| 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: S790N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: S790N
| 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: S845N
| 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: S644N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
A |
7: 43,147,288 (GRCm39) |
I315F |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
A |
3: 59,784,632 (GRCm39) |
D368E |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,902,337 (GRCm39) |
T485I |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,670,541 (GRCm39) |
I552F |
probably damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,112 (GRCm39) |
N9K |
probably benign |
Het |
| Arhgef18 |
A |
T |
8: 3,403,636 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
C |
18: 80,890,398 (GRCm39) |
T314A |
|
Het |
| Birc6 |
T |
A |
17: 74,950,389 (GRCm39) |
I3214N |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,557,714 (GRCm39) |
I762V |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,986,365 (GRCm39) |
M536K |
probably benign |
Het |
| Ccdc85c |
C |
A |
12: 108,240,759 (GRCm39) |
A212S |
unknown |
Het |
| Cdh23 |
T |
A |
10: 60,150,162 (GRCm39) |
D2561V |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,173,472 (GRCm39) |
Y1672F |
probably damaging |
Het |
| Cep83 |
T |
C |
10: 94,564,579 (GRCm39) |
S173P |
possibly damaging |
Het |
| Ctc1 |
C |
T |
11: 68,918,584 (GRCm39) |
P530S |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,167,484 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,292,671 (GRCm39) |
I3019F |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,230,258 (GRCm39) |
D349G |
probably damaging |
Het |
| Ehd2 |
C |
G |
7: 15,697,917 (GRCm39) |
G107R |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,388,804 (GRCm39) |
W816R |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,404,840 (GRCm39) |
S69C |
probably null |
Het |
| Fbxo43 |
A |
G |
15: 36,151,917 (GRCm39) |
F600S |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,455,921 (GRCm39) |
D2117V |
probably damaging |
Het |
| Gas2l3 |
T |
A |
10: 89,262,342 (GRCm39) |
T127S |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,900,228 (GRCm39) |
L1205R |
probably benign |
Het |
| Gm17093 |
A |
T |
14: 44,758,139 (GRCm39) |
I107F |
|
Het |
| Gm7298 |
T |
A |
6: 121,761,414 (GRCm39) |
C1323* |
probably null |
Het |
| H2-D1 |
A |
G |
17: 35,485,741 (GRCm39) |
T89A |
|
Het |
| Hira |
T |
G |
16: 18,715,259 (GRCm39) |
D52E |
probably benign |
Het |
| Ighv6-6 |
G |
C |
12: 114,398,525 (GRCm39) |
Y80* |
probably null |
Het |
| Kat6b |
C |
T |
14: 21,719,953 (GRCm39) |
T1435I |
probably damaging |
Het |
| Kcna1 |
C |
A |
6: 126,620,443 (GRCm39) |
|
probably benign |
Het |
| Kif24 |
C |
A |
4: 41,392,957 (GRCm39) |
R1284L |
possibly damaging |
Het |
| Kremen2 |
A |
C |
17: 23,962,314 (GRCm39) |
C173G |
probably damaging |
Het |
| Krtap24-1 |
G |
C |
16: 88,408,707 (GRCm39) |
Q140E |
probably benign |
Het |
| Lrrc66 |
C |
A |
5: 73,786,952 (GRCm39) |
G133* |
probably null |
Het |
| Mast1 |
C |
A |
8: 85,647,987 (GRCm39) |
R498L |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,534,504 (GRCm39) |
I1231T |
possibly damaging |
Het |
| Nid2 |
G |
A |
14: 19,860,131 (GRCm39) |
V1350I |
possibly damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,789 (GRCm39) |
V196D |
possibly damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,484 (GRCm39) |
C179R |
probably damaging |
Het |
| Or9r3 |
T |
C |
10: 129,948,350 (GRCm39) |
Q103R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,469 (GRCm39) |
D577G |
possibly damaging |
Het |
| Pde4d |
T |
A |
13: 109,578,855 (GRCm39) |
N36K |
probably benign |
Het |
| Plod1 |
C |
T |
4: 148,004,658 (GRCm39) |
D481N |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,493,981 (GRCm39) |
M212L |
probably damaging |
Het |
| Ppip5k1 |
C |
A |
2: 121,173,282 (GRCm39) |
E464* |
probably null |
Het |
| Raph1 |
T |
A |
1: 60,529,270 (GRCm39) |
M664L |
unknown |
Het |
| Rbm11 |
A |
C |
16: 75,395,673 (GRCm39) |
M115L |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,034,869 (GRCm39) |
H45R |
possibly damaging |
Het |
| Rnf43 |
A |
G |
11: 87,618,232 (GRCm39) |
E47G |
probably benign |
Het |
| Rsph1 |
A |
G |
17: 31,496,260 (GRCm39) |
|
probably benign |
Het |
| Safb |
A |
G |
17: 56,892,286 (GRCm39) |
E42G |
unknown |
Het |
| Scn1a |
A |
T |
2: 66,155,182 (GRCm39) |
D592E |
probably damaging |
Het |
| Sdf4 |
T |
G |
4: 156,093,379 (GRCm39) |
V237G |
possibly damaging |
Het |
| Slc44a2 |
C |
A |
9: 21,258,068 (GRCm39) |
H439Q |
possibly damaging |
Het |
| Smg7 |
A |
T |
1: 152,720,123 (GRCm39) |
N761K |
possibly damaging |
Het |
| Snrpb2 |
A |
G |
2: 142,910,284 (GRCm39) |
E114G |
probably benign |
Het |
| Spmip11 |
A |
G |
15: 98,486,548 (GRCm39) |
H106R |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,090,051 (GRCm39) |
D346G |
possibly damaging |
Het |
| Svopl |
T |
A |
6: 37,993,979 (GRCm39) |
I351F |
probably damaging |
Het |
| Tgfb2 |
A |
G |
1: 186,422,942 (GRCm39) |
S136P |
possibly damaging |
Het |
| Thsd7a |
A |
T |
6: 12,317,400 (GRCm39) |
L1636* |
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,083,488 (GRCm39) |
T482A |
probably benign |
Het |
| Tnk2 |
C |
A |
16: 32,499,080 (GRCm39) |
P798T |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,927,630 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,129,213 (GRCm39) |
M310V |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,904,819 (GRCm39) |
D795V |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,949,148 (GRCm39) |
V914E |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,558 (GRCm39) |
C1627* |
probably null |
Het |
| Vmn1r28 |
C |
A |
6: 58,243,052 (GRCm39) |
F298L |
noncoding transcript |
Het |
| Vps29 |
T |
C |
5: 122,500,877 (GRCm39) |
S69P |
possibly damaging |
Het |
| Zfp703 |
T |
A |
8: 27,469,782 (GRCm39) |
L482H |
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 |
|
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 |
3,907,452 (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'- AGCTCTCTCCACTCAAGGAAAG -3'
(R):5'- TTTGCTCACAGGAAAGGCCG -3'
Sequencing Primer
(F):5'- TCTCCACTCAAGGAAAGAGGCAG -3'
(R):5'- CAAGGAGGCGGTCTCTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation