Incidental Mutation 'R4395:Plekhs1'
| ID |
325468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhs1
|
| Ensembl Gene |
ENSMUSG00000035818 |
| Gene Name |
pleckstrin homology domain containing, family S member 1 |
| Synonyms |
9930023K05Rik |
| MMRRC Submission |
041684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R4395 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56450072-56475184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56468326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 298
(D298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039666]
[ENSMUST00000178590]
[ENSMUST00000225909]
|
| AlphaFold |
Q8BW88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039666
AA Change: D298G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035440
Gene: ENSMUSG00000035818
AA Change: D298G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
137 |
4.68e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178590
AA Change: D298G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136674
Gene: ENSMUSG00000035818
AA Change: D298G
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,679 (GRCm39) |
Y283H |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,736 (GRCm39) |
C109R |
probably damaging |
Het |
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,744,703 (GRCm39) |
S1266F |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,457 (GRCm39) |
L1614P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,376,527 (GRCm39) |
R2038G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,656,449 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
C |
19: 47,740,352 (GRCm39) |
T1274A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,212 (GRCm39) |
Y115C |
probably damaging |
Het |
| Crebl2 |
A |
G |
6: 134,826,208 (GRCm39) |
E53G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,671 (GRCm39) |
S107P |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,431 (GRCm39) |
I488F |
probably damaging |
Het |
| Hmga2 |
C |
T |
10: 120,311,956 (GRCm39) |
G5S |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
G |
T |
19: 34,589,951 (GRCm39) |
E376* |
probably null |
Het |
| Ints5 |
A |
G |
19: 8,873,808 (GRCm39) |
E589G |
probably damaging |
Het |
| Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,066,323 (GRCm39) |
Y101C |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,236,357 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,717,321 (GRCm39) |
K185N |
possibly damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,023,351 (GRCm39) |
S233P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,013,432 (GRCm39) |
Q75L |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,391,019 (GRCm39) |
F427Y |
probably damaging |
Het |
| Or1s2 |
A |
T |
19: 13,758,275 (GRCm39) |
I100F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,469 (GRCm39) |
L157P |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,091 (GRCm39) |
D632G |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,131 (GRCm39) |
T375A |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,765,665 (GRCm38) |
T549I |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,657,844 (GRCm39) |
I565V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,274 (GRCm39) |
I47T |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,915,451 (GRCm39) |
V2028I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,495,302 (GRCm39) |
H142Q |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,765,053 (GRCm39) |
I983V |
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,783 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ubxn11 |
G |
T |
4: 133,843,431 (GRCm39) |
E171D |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTGCACAGACTTCGGG -3'
(R):5'- AATGTGTCTGCCTCGCTCTTAG -3'
Sequencing Primer
(F):5'- GCACAGACTTCGGGACTTTG -3'
(R):5'- GCTCTTAGGGCCCACAAAGTTTTAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation