Incidental Mutation 'R3023:Plekhm3'
| ID |
265739 |
| 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 |
040539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R3023 (G1)
|
| Quality Score |
124 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
64828279-64995983 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CCTGCTGCTGCTGCTGCTGCTGCTGC to CCTGCTGCTGCTGCTGCTGCTGC
at 64976940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097713]
[ENSMUST00000123225]
[ENSMUST00000139649]
|
| AlphaFold |
Q8BM47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097713
|
| SMART Domains |
Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,646,531 (GRCm39) |
E1060D |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,982,002 (GRCm39) |
I1106F |
probably benign |
Het |
| Arl5a |
A |
G |
2: 52,306,209 (GRCm39) |
V41A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,311,957 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,842,593 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,877 (GRCm39) |
N390S |
possibly damaging |
Het |
| Dtx3l |
A |
G |
16: 35,752,806 (GRCm39) |
I600T |
probably benign |
Het |
| Epb41l1 |
A |
C |
2: 156,356,129 (GRCm39) |
E555A |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,118,373 (GRCm39) |
R503H |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,833,147 (GRCm39) |
N436D |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,692,433 (GRCm39) |
C11Y |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,990 (GRCm39) |
I80T |
possibly damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,417,077 (GRCm39) |
I703F |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,351 (GRCm39) |
Y37C |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,836,110 (GRCm39) |
R517H |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,422,898 (GRCm39) |
R61W |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,031,991 (GRCm39) |
T1022S |
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,948,541 (GRCm39) |
S669T |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Tlr2 |
C |
T |
3: 83,745,178 (GRCm39) |
V302I |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,701 (GRCm39) |
K77R |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
| Vmn2r78 |
G |
T |
7: 86,604,174 (GRCm39) |
S784I |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATATGTGGGTACTGGAGAGTC -3'
(R):5'- GGACAGCCCCAGATAATCTTTCC -3'
Sequencing Primer
(F):5'- TGGGTACTGGAGAGTCAGCAG -3'
(R):5'- CAGATAATCTTTCCTGGATGGCAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation