Incidental Mutation 'R4529:Plekhm3'
| ID |
333018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhm3
|
| Ensembl Gene |
ENSMUSG00000051344 |
| Gene Name |
pleckstrin homology domain containing, family M, member 3 |
| Synonyms |
Plekhm1l, A230102O09Rik, 9430067K14Rik |
| MMRRC Submission |
041592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R4529 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
64828279-64995983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64976984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 162
(V162A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097713]
[ENSMUST00000123225]
[ENSMUST00000139649]
|
| AlphaFold |
Q8BM47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097713
AA Change: V162A
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: V162A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
PH
|
213 |
311 |
4.86e-3 |
SMART |
|
PH
|
362 |
458 |
7.88e-12 |
SMART |
|
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
|
DUF4206
|
529 |
732 |
2.73e-114 |
SMART |
|
C1
|
670 |
722 |
3.9e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139649
AA Change: V162A
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: V162A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
PH
|
213 |
311 |
4.86e-3 |
SMART |
|
PH
|
362 |
458 |
7.88e-12 |
SMART |
|
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
|
DUF4206
|
529 |
732 |
2.73e-114 |
SMART |
|
C1
|
670 |
722 |
3.9e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181350
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,051,742 (GRCm39) |
N404D |
probably benign |
Het |
| Ankrd2 |
A |
T |
19: 42,032,240 (GRCm39) |
I231F |
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
| H2-Q6 |
C |
T |
17: 35,644,820 (GRCm39) |
T203I |
probably null |
Het |
| Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,131,100 (GRCm39) |
R785Q |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
| Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
| Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,968,600 (GRCm39) |
Y109N |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,376,044 (GRCm39) |
C38R |
possibly damaging |
Het |
| Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
| Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
possibly damaging |
Het |
|
| Other mutations in Plekhm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Plekhm3
|
APN |
1 |
64,960,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01732:Plekhm3
|
APN |
1 |
64,961,407 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02422:Plekhm3
|
APN |
1 |
64,961,025 (GRCm39) |
nonsense |
probably null |
|
|
IGL02724:Plekhm3
|
APN |
1 |
64,834,276 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03226:Plekhm3
|
APN |
1 |
64,960,959 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03250:Plekhm3
|
APN |
1 |
64,977,206 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0124:Plekhm3
|
UTSW |
1 |
64,960,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1336:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R1467:Plekhm3
|
UTSW |
1 |
64,932,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Plekhm3
|
UTSW |
1 |
64,932,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Plekhm3
|
UTSW |
1 |
64,976,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1901:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R2328:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R2432:Plekhm3
|
UTSW |
1 |
64,977,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R3023:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R4496:Plekhm3
|
UTSW |
1 |
64,900,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:Plekhm3
|
UTSW |
1 |
64,977,086 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4969:Plekhm3
|
UTSW |
1 |
64,977,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Plekhm3
|
UTSW |
1 |
64,859,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Plekhm3
|
UTSW |
1 |
64,961,045 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5583:Plekhm3
|
UTSW |
1 |
64,977,145 (GRCm39) |
nonsense |
probably null |
|
|
R5953:Plekhm3
|
UTSW |
1 |
64,977,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6319:Plekhm3
|
UTSW |
1 |
64,961,093 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6970:Plekhm3
|
UTSW |
1 |
64,931,912 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7014:Plekhm3
|
UTSW |
1 |
64,922,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Plekhm3
|
UTSW |
1 |
64,977,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7570:Plekhm3
|
UTSW |
1 |
64,977,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Plekhm3
|
UTSW |
1 |
64,922,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7719:Plekhm3
|
UTSW |
1 |
64,960,901 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7894:Plekhm3
|
UTSW |
1 |
64,960,874 (GRCm39) |
missense |
probably benign |
|
|
R8808:Plekhm3
|
UTSW |
1 |
64,922,355 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9069:Plekhm3
|
UTSW |
1 |
64,960,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9296:Plekhm3
|
UTSW |
1 |
64,961,639 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9788:Plekhm3
|
UTSW |
1 |
64,961,422 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCCATATGTGGGTACTGGAG -3'
(R):5'- AGCCCCAGATAATCTTTCCTGG -3'
Sequencing Primer
(F):5'- CCATATGTGGGTACTGGAGAGTCAG -3'
(R):5'- CAGATAATCTTTCCTGGATGGCAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation