Incidental Mutation 'R0023:Plekhs1'
ID |
15177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhs1
|
Ensembl Gene |
ENSMUSG00000035818 |
Gene Name |
pleckstrin homology domain containing, family S member 1 |
Synonyms |
9930023K05Rik |
MMRRC Submission |
038318-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R0023 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56450072-56475184 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 56466948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 260
(S260A)
|
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: S260A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000035440 Gene: ENSMUSG00000035818 AA Change: S260A
Domain | Start | End | E-Value | Type |
PH
|
21 |
137 |
4.68e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178590
AA Change: S260A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136674 Gene: ENSMUSG00000035818 AA Change: S260A
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 |
0.6467 |
Coding Region Coverage |
- 1x: 78.2%
- 3x: 67.5%
- 10x: 40.9%
- 20x: 21.9%
|
Validation Efficiency |
89% (77/87) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
Anapc1 |
T |
A |
2: 128,520,138 (GRCm39) |
K226N |
probably damaging |
Het |
Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,501,089 (GRCm39) |
L938Q |
probably damaging |
Het |
Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
Copb1 |
A |
T |
7: 113,849,329 (GRCm39) |
D91E |
probably benign |
Het |
Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,852,837 (GRCm39) |
K1375E |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Lrig3 |
A |
C |
10: 125,846,088 (GRCm39) |
D839A |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
Nsmaf |
A |
G |
4: 6,408,680 (GRCm39) |
Y700H |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,138,929 (GRCm39) |
|
probably benign |
Het |
Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
Synrg |
G |
T |
11: 83,899,479 (GRCm39) |
D562Y |
probably damaging |
Het |
Tfip11 |
T |
C |
5: 112,479,875 (GRCm39) |
S265P |
possibly damaging |
Het |
Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
probably null |
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 |
R0100:Plekhs1
|
UTSW |
19 |
56,466,934 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-12-12 |