Incidental Mutation 'R6319:Plekhm3'
ID |
509322 |
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 |
044474-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
R6319 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
64828279-64995983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64961093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 388
(Y388N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097713]
[ENSMUST00000139649]
|
AlphaFold |
Q8BM47 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097713
AA Change: Y388N
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000095320 Gene: ENSMUSG00000051344 AA Change: Y388N
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: ENSMUST00000139649
AA Change: Y388N
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138002 Gene: ENSMUSG00000051344 AA Change: Y388N
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: ENSMUST00000140857
|
Meta Mutation Damage Score |
0.2041 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
C |
6: 58,651,723 (GRCm39) |
S372P |
probably benign |
Het |
Adam34 |
A |
G |
8: 44,104,952 (GRCm39) |
I231T |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,307,366 (GRCm39) |
H840L |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,750,978 (GRCm39) |
T470A |
probably benign |
Het |
Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
B430306N03Rik |
A |
T |
17: 48,623,771 (GRCm39) |
Q24L |
probably damaging |
Het |
Bmp6 |
A |
T |
13: 38,530,390 (GRCm39) |
H161L |
probably benign |
Het |
Cdca8 |
C |
A |
4: 124,815,087 (GRCm39) |
D177Y |
possibly damaging |
Het |
Col14a1 |
A |
G |
15: 55,379,565 (GRCm39) |
T1693A |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,481,167 (GRCm39) |
S1230P |
probably damaging |
Het |
Dcaf13 |
A |
G |
15: 39,007,067 (GRCm39) |
T334A |
probably benign |
Het |
Dhx32 |
A |
C |
7: 133,338,955 (GRCm39) |
V360G |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 49,985,367 (GRCm39) |
T205A |
probably benign |
Het |
Dxo |
A |
G |
17: 35,057,367 (GRCm39) |
E253G |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,523,929 (GRCm39) |
Y747C |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,601,389 (GRCm39) |
E238G |
possibly damaging |
Het |
Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
Grik4 |
A |
T |
9: 42,477,632 (GRCm39) |
M518K |
probably damaging |
Het |
Igf2r |
T |
A |
17: 12,933,000 (GRCm39) |
S841C |
probably damaging |
Het |
Itfg1 |
G |
T |
8: 86,567,258 (GRCm39) |
T37K |
probably damaging |
Het |
Kcnn4 |
T |
A |
7: 24,081,165 (GRCm39) |
M301K |
possibly damaging |
Het |
Kel |
C |
A |
6: 41,679,381 (GRCm39) |
E127D |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,310,666 (GRCm39) |
Y569C |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,518,798 (GRCm39) |
V89D |
possibly damaging |
Het |
Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
Mnd1 |
A |
G |
3: 84,049,071 (GRCm39) |
S2P |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,053,023 (GRCm39) |
|
probably null |
Het |
Or51af1 |
T |
C |
7: 103,141,932 (GRCm39) |
E51G |
possibly damaging |
Het |
Or5h23 |
A |
G |
16: 58,906,384 (GRCm39) |
I154T |
probably benign |
Het |
Or8g17 |
A |
G |
9: 38,930,810 (GRCm39) |
V9A |
probably damaging |
Het |
Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
Prr18 |
G |
T |
17: 8,560,143 (GRCm39) |
V100F |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,634,890 (GRCm39) |
Y44C |
probably damaging |
Het |
Smg6 |
T |
C |
11: 75,047,048 (GRCm39) |
L1247P |
probably damaging |
Het |
Spata31e2 |
G |
A |
1: 26,724,482 (GRCm39) |
R233C |
probably benign |
Het |
Tdh |
T |
C |
14: 63,733,186 (GRCm39) |
T137A |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,869,393 (GRCm39) |
V292A |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,803,758 (GRCm39) |
V1116A |
probably benign |
Het |
Ubr4 |
G |
A |
4: 139,136,200 (GRCm39) |
E942K |
possibly damaging |
Het |
Unc5b |
G |
A |
10: 60,614,580 (GRCm39) |
A239V |
probably damaging |
Het |
Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,566,877 (GRCm39) |
E463G |
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 |
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 |
|
R5953:Plekhm3
|
UTSW |
1 |
64,977,054 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- AGGTTTTGCTCAGAACTCCTTG -3'
(R):5'- GTGACTGTGCACAGAACCAC -3'
Sequencing Primer
(F):5'- AGAACTCCTTGCAGCGTTG -3'
(R):5'- CCACTGTTTACAGAAGAAATCCAGTG -3'
|
Posted On |
2018-04-02 |