Incidental Mutation 'R5953:Plekhm3'
| ID |
470981 |
| 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 |
043245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5953 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
64828279-64995983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64977054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 139
(E139K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097713]
[ENSMUST00000123225]
[ENSMUST00000139649]
|
| AlphaFold |
Q8BM47 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097713
AA Change: E139K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: E139K
| 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 damaging
Transcript: ENSMUST00000139649
AA Change: E139K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: E139K
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,960,241 (GRCm39) |
S675T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,780,416 (GRCm39) |
L212P |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,043,225 (GRCm39) |
T751A |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,229 (GRCm39) |
N532D |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,682,285 (GRCm39) |
E220G |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,927,979 (GRCm39) |
|
probably null |
Het |
| Cenpp |
T |
C |
13: 49,806,161 (GRCm39) |
D2G |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Clec4a3 |
G |
T |
6: 122,946,451 (GRCm39) |
V232L |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,968,156 (GRCm39) |
H792Y |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,206,220 (GRCm39) |
T470S |
probably benign |
Het |
| Cym |
T |
A |
3: 107,120,783 (GRCm39) |
D274V |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,890,049 (GRCm39) |
C627Y |
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,289,903 (GRCm39) |
I111N |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,027,871 (GRCm39) |
Y310F |
probably damaging |
Het |
| Fam217b |
C |
T |
2: 178,062,153 (GRCm39) |
S39F |
probably damaging |
Het |
| Fam234b |
G |
T |
6: 135,202,705 (GRCm39) |
R353L |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,147,572 (GRCm39) |
I404V |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,481,833 (GRCm39) |
D180E |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,369,182 (GRCm39) |
C256* |
probably null |
Het |
| Intu |
A |
C |
3: 40,633,980 (GRCm39) |
L404F |
probably damaging |
Het |
| Jmy |
G |
A |
13: 93,635,624 (GRCm39) |
T64M |
possibly damaging |
Het |
| Mpl |
C |
A |
4: 118,311,707 (GRCm39) |
S302I |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,311,708 (GRCm39) |
S302C |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,287,951 (GRCm39) |
D241Y |
probably damaging |
Het |
| Nlrp3 |
C |
T |
11: 59,437,617 (GRCm39) |
H99Y |
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,732 (GRCm39) |
I133F |
possibly damaging |
Het |
| Or6c216 |
C |
G |
10: 129,678,483 (GRCm39) |
V143L |
probably benign |
Het |
| Pglyrp1 |
A |
T |
7: 18,624,238 (GRCm39) |
I174F |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
| Pomk |
C |
A |
8: 26,473,076 (GRCm39) |
L292F |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,504,148 (GRCm39) |
I1103T |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,266,401 (GRCm39) |
D38G |
probably damaging |
Het |
| Rapsn |
T |
C |
2: 90,872,308 (GRCm39) |
V214A |
probably benign |
Het |
| S100a9 |
T |
A |
3: 90,600,234 (GRCm39) |
K54M |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,570 (GRCm39) |
Y1964H |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,464,780 (GRCm39) |
N331S |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,958,677 (GRCm39) |
C252S |
probably damaging |
Het |
| Snx9 |
G |
T |
17: 5,958,678 (GRCm39) |
C252F |
probably damaging |
Het |
| Trem1 |
A |
T |
17: 48,544,220 (GRCm39) |
M82L |
probably benign |
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 |
|
R4529:Plekhm3
|
UTSW |
1 |
64,976,984 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
|
|
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'- CCTTGCTGGGTGAAGACAAC -3'
(R):5'- GGGGCATGAGGTACTTGGTAAC -3'
Sequencing Primer
(F):5'- CTTGCTGGGTGAAGACAACAGAAAAG -3'
(R):5'- CCACTGTAAGAGCAGGCTTTTAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation