Incidental Mutation 'R0100:Plekhs1'
| ID |
16232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhs1
|
| Ensembl Gene |
ENSMUSG00000035818 |
| Gene Name |
pleckstrin homology domain containing, family S member 1 |
| Synonyms |
9930023K05Rik |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56450072-56475184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56466934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 255
(E255G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039666]
[ENSMUST00000178590]
[ENSMUST00000225909]
|
| AlphaFold |
Q8BW88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039666
AA Change: E255G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: E255G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
137 |
4.68e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178590
AA Change: E255G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: E255G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
136 |
1.77e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225909
|
| Meta Mutation Damage Score |
0.1131 |
| Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 82.7%
- 20x: 75.2%
|
| Validation Efficiency |
89% (68/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,885,538 (GRCm39) |
I681T |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,240,542 (GRCm39) |
H793R |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,053,750 (GRCm39) |
I351V |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,344,716 (GRCm39) |
S4P |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,378,141 (GRCm39) |
D119G |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hgs |
T |
G |
11: 120,373,678 (GRCm39) |
Y708D |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,629,999 (GRCm39) |
N1230I |
probably damaging |
Het |
| Mindy2 |
C |
A |
9: 70,514,731 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,046,175 (GRCm39) |
E586A |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,923 (GRCm39) |
N303I |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekha6 |
T |
C |
1: 133,197,915 (GRCm39) |
S271P |
probably damaging |
Het |
| Pram1 |
T |
A |
17: 33,860,373 (GRCm39) |
N313K |
possibly damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,685,034 (GRCm39) |
S261L |
probably benign |
Het |
| Spint5 |
T |
A |
2: 164,558,920 (GRCm39) |
C49S |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Thoc6 |
A |
T |
17: 23,888,824 (GRCm39) |
W195R |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 155,882,821 (GRCm39) |
D342E |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,529 (GRCm39) |
S20P |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly damaging |
Het |
|
| Other mutations in Plekhs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Plekhs1
|
APN |
19 |
56,453,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01387:Plekhs1
|
APN |
19 |
56,459,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02506:Plekhs1
|
APN |
19 |
56,460,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Plekhs1
|
UTSW |
19 |
56,468,290 (GRCm39) |
unclassified |
probably benign |
|
|
FR4340:Plekhs1
|
UTSW |
19 |
56,468,290 (GRCm39) |
unclassified |
probably benign |
|
|
FR4342:Plekhs1
|
UTSW |
19 |
56,468,293 (GRCm39) |
unclassified |
probably benign |
|
|
FR4342:Plekhs1
|
UTSW |
19 |
56,468,290 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Plekhs1
|
UTSW |
19 |
56,468,295 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Plekhs1
|
UTSW |
19 |
56,468,295 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03052:Plekhs1
|
UTSW |
19 |
56,459,189 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0023:Plekhs1
|
UTSW |
19 |
56,466,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0023:Plekhs1
|
UTSW |
19 |
56,466,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0100:Plekhs1
|
UTSW |
19 |
56,466,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Plekhs1
|
UTSW |
19 |
56,465,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0498:Plekhs1
|
UTSW |
19 |
56,469,536 (GRCm39) |
splice site |
probably null |
|
|
R1264:Plekhs1
|
UTSW |
19 |
56,474,195 (GRCm39) |
missense |
probably benign |
|
|
R1528:Plekhs1
|
UTSW |
19 |
56,468,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Plekhs1
|
UTSW |
19 |
56,459,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Plekhs1
|
UTSW |
19 |
56,466,954 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2884:Plekhs1
|
UTSW |
19 |
56,459,258 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3237:Plekhs1
|
UTSW |
19 |
56,453,032 (GRCm39) |
splice site |
probably null |
|
|
R4395:Plekhs1
|
UTSW |
19 |
56,468,326 (GRCm39) |
missense |
probably benign |
|
|
R4825:Plekhs1
|
UTSW |
19 |
56,461,700 (GRCm39) |
splice site |
probably null |
|
|
R5484:Plekhs1
|
UTSW |
19 |
56,468,260 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5511:Plekhs1
|
UTSW |
19 |
56,474,224 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7105:Plekhs1
|
UTSW |
19 |
56,465,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7267:Plekhs1
|
UTSW |
19 |
56,459,209 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8212:Plekhs1
|
UTSW |
19 |
56,460,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Plekhs1
|
UTSW |
19 |
56,465,590 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8905:Plekhs1
|
UTSW |
19 |
56,471,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Plekhs1
|
UTSW |
19 |
56,461,680 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9564:Plekhs1
|
UTSW |
19 |
56,461,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF025:Plekhs1
|
UTSW |
19 |
56,468,290 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Plekhs1
|
UTSW |
19 |
56,468,290 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation