Incidental Mutation 'R8212:Plekhs1'
| ID |
636231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhs1
|
| Ensembl Gene |
ENSMUSG00000035818 |
| Gene Name |
pleckstrin homology domain containing, family S member 1 |
| Synonyms |
9930023K05Rik |
| MMRRC Submission |
067635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R8212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56450072-56475184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56460188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 95
(M95V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039666]
[ENSMUST00000178590]
|
| AlphaFold |
Q8BW88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039666
AA Change: M95V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: M95V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
137 |
4.68e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178590
AA Change: M94V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: M94V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
136 |
1.77e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.2882 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,670,240 (GRCm39) |
I2369V |
probably benign |
Het |
| Ager |
G |
A |
17: 34,819,586 (GRCm39) |
R368H |
possibly damaging |
Het |
| Arl2 |
G |
T |
19: 6,187,596 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap126 |
A |
T |
1: 170,953,630 (GRCm39) |
T67S |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,369,067 (GRCm39) |
|
probably null |
Het |
| Cfdp1 |
A |
T |
8: 112,571,815 (GRCm39) |
N31K |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,228,173 (GRCm39) |
T408A |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,424 (GRCm39) |
N526S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,920,134 (GRCm39) |
D215G |
probably damaging |
Het |
| Cstf1 |
T |
C |
2: 172,219,872 (GRCm39) |
S328P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,637,205 (GRCm39) |
E193G |
possibly damaging |
Het |
| Fam83c |
A |
G |
2: 155,671,207 (GRCm39) |
F743L |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,682,064 (GRCm39) |
I364T |
probably benign |
Het |
| Foxo3 |
T |
C |
10: 42,072,991 (GRCm39) |
M509V |
possibly damaging |
Het |
| Galnt6 |
T |
C |
15: 100,591,308 (GRCm39) |
T599A |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,676 (GRCm39) |
S58P |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,480,242 (GRCm39) |
A402V |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,946,012 (GRCm39) |
A1200S |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,116,762 (GRCm39) |
D162V |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,215,148 (GRCm39) |
V237A |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pcf11 |
G |
A |
7: 92,308,706 (GRCm39) |
R589C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,362,696 (GRCm39) |
D574G |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,422,250 (GRCm39) |
S68P |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,536,746 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
A |
5: 92,376,524 (GRCm39) |
I668L |
possibly damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rwdd1 |
A |
G |
10: 33,878,523 (GRCm39) |
V104A |
probably damaging |
Het |
| Slc2a9 |
G |
T |
5: 38,637,402 (GRCm39) |
H25N |
probably benign |
Het |
| Slc36a3 |
T |
A |
11: 55,015,907 (GRCm39) |
I416F |
probably damaging |
Het |
| Sppl2b |
T |
A |
10: 80,701,193 (GRCm39) |
V356D |
probably damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,918 (GRCm39) |
T99A |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,229,074 (GRCm39) |
M243K |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,746,832 (GRCm39) |
Y6H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,612,626 (GRCm39) |
H17151L |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,439,624 (GRCm39) |
V182A |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,310,373 (GRCm39) |
D724E |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,569 (GRCm39) |
V946D |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGCCTTTAAAATGTGGGTC -3'
(R):5'- GTGTGCACTCGTACAACCAC -3'
Sequencing Primer
(F):5'- GGTCAATGAAATCTGTAGCTTCG -3'
(R):5'- CACACAATGAAGAGTGCTGTGTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation