Incidental Mutation 'R1336:Plekhm3'
ID |
156861 |
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 |
039401-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R1336 (G1)
|
Quality Score |
104 |
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: 98.5%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah2 |
A |
G |
19: 32,022,341 (GRCm39) |
I231T |
probably damaging |
Het |
Bbs7 |
A |
G |
3: 36,658,593 (GRCm39) |
I227T |
probably benign |
Het |
Ccdc141 |
T |
C |
2: 76,844,784 (GRCm39) |
T1428A |
probably damaging |
Het |
Chsy1 |
C |
A |
7: 65,774,987 (GRCm39) |
|
probably null |
Het |
Cox16 |
T |
C |
12: 81,519,064 (GRCm39) |
D89G |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,934,041 (GRCm39) |
I3511T |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,276,901 (GRCm39) |
Y333N |
probably damaging |
Het |
Fcrl6 |
G |
A |
1: 172,426,791 (GRCm39) |
Q52* |
probably null |
Het |
Fgl2 |
T |
A |
5: 21,578,181 (GRCm39) |
L156Q |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,855,167 (GRCm39) |
D1892G |
probably benign |
Het |
Ogfod1 |
T |
C |
8: 94,784,727 (GRCm39) |
C344R |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,615,715 (GRCm39) |
V149A |
possibly damaging |
Het |
Pmfbp1 |
T |
G |
8: 110,256,898 (GRCm39) |
I534S |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,968,326 (GRCm39) |
W170R |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,044,758 (GRCm39) |
T183I |
probably damaging |
Het |
Snx4 |
T |
C |
16: 33,101,050 (GRCm39) |
I234T |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,117,388 (GRCm39) |
S454P |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Uck1 |
T |
C |
2: 32,149,666 (GRCm39) |
D71G |
probably damaging |
Het |
Vcan |
C |
T |
13: 89,841,174 (GRCm39) |
E497K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGTATCAAGCAGTGTTCAGAGG -3'
(R):5'- TTCAACATCTGTCAGCGTCGGAG -3'
Sequencing Primer
(F):5'- GGAGACTTAACGGAAGTCATAATATC -3'
(R):5'- GGGACAGACCTCGTTCTGTG -3'
|
Posted On |
2014-02-11 |