Incidental Mutation 'IGL03250:Plekhm3'
| ID |
414529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhm3
|
| Ensembl Gene |
ENSMUSG00000051344 |
| Gene Name |
pleckstrin homology domain containing, family M, member 3 |
| Synonyms |
Plekhm1l, A230102O09Rik, 9430067K14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL03250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
64828279-64995983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64977206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097713]
[ENSMUST00000123225]
[ENSMUST00000139649]
|
| AlphaFold |
Q8BM47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097713
AA Change: V88A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: V88A
| 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 |
possibly damaging
Transcript: ENSMUST00000123225
AA Change: V88A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139649
AA Change: V88A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: V88A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bnipl |
C |
T |
3: 95,151,450 (GRCm39) |
|
probably benign |
Het |
| Calb2 |
G |
T |
8: 110,869,739 (GRCm39) |
L265I |
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,858 (GRCm39) |
R442C |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,940,426 (GRCm39) |
V131A |
probably benign |
Het |
| Ctnnal1 |
G |
T |
4: 56,812,356 (GRCm39) |
N723K |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,711,380 (GRCm39) |
|
probably null |
Het |
| Hdac4 |
A |
C |
1: 91,862,322 (GRCm39) |
|
probably null |
Het |
| Mms19 |
A |
T |
19: 41,942,903 (GRCm39) |
|
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,704 (GRCm39) |
M113K |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,556 (GRCm39) |
T127A |
possibly damaging |
Het |
| S100a7l2 |
T |
C |
3: 90,997,715 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,485,846 (GRCm39) |
S80P |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,403 (GRCm39) |
V121E |
possibly damaging |
Het |
| Vmn1r70 |
C |
T |
7: 10,368,208 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,063 (GRCm39) |
T306I |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,699,124 (GRCm39) |
M2524K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,450,396 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,149,931 (GRCm39) |
T143A |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation