Incidental Mutation 'R0559:Plekhh3'
ID |
45798 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhh3
|
Ensembl Gene |
ENSMUSG00000035172 |
Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 |
Synonyms |
|
MMRRC Submission |
038751-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R0559 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101053505-101062177 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101055592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 483
(E483K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043397]
[ENSMUST00000043654]
[ENSMUST00000123864]
[ENSMUST00000129895]
[ENSMUST00000164474]
|
AlphaFold |
Q8VCE9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043397
AA Change: E483K
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046044 Gene: ENSMUSG00000035172 AA Change: E483K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
PH
|
96 |
201 |
1.9e-5 |
SMART |
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
Pfam:MyTH4
|
285 |
398 |
4.2e-21 |
PFAM |
B41
|
400 |
664 |
2.91e-4 |
SMART |
low complexity region
|
750 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043654
|
SMART Domains |
Protein: ENSMUSP00000045901 Gene: ENSMUSG00000045007
Domain | Start | End | E-Value | Type |
Tubulin
|
48 |
247 |
1.11e-58 |
SMART |
Tubulin_C
|
249 |
393 |
4.52e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123864
|
SMART Domains |
Protein: ENSMUSP00000120865 Gene: ENSMUSG00000035172
Domain | Start | End | E-Value | Type |
PH
|
95 |
200 |
1.9e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129895
AA Change: E483K
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000137841 Gene: ENSMUSG00000035172 AA Change: E483K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
PH
|
96 |
201 |
1.9e-5 |
SMART |
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
Pfam:MyTH4
|
281 |
399 |
2.7e-16 |
PFAM |
B41
|
400 |
664 |
5.17e-4 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000139200
AA Change: E97K
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156320
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164474
AA Change: E480K
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127088 Gene: ENSMUSG00000035172 AA Change: E480K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
PH
|
96 |
201 |
1.9e-5 |
SMART |
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
Pfam:MyTH4
|
281 |
399 |
3.3e-16 |
PFAM |
B41
|
400 |
661 |
6.14e-4 |
SMART |
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1576 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (34/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Plekhh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Plekhh3
|
APN |
11 |
101,056,519 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0139:Plekhh3
|
UTSW |
11 |
101,054,501 (GRCm39) |
unclassified |
probably benign |
|
R0385:Plekhh3
|
UTSW |
11 |
101,055,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R1839:Plekhh3
|
UTSW |
11 |
101,054,426 (GRCm39) |
unclassified |
probably benign |
|
R2845:Plekhh3
|
UTSW |
11 |
101,061,056 (GRCm39) |
intron |
probably benign |
|
R3110:Plekhh3
|
UTSW |
11 |
101,054,973 (GRCm39) |
unclassified |
probably benign |
|
R3111:Plekhh3
|
UTSW |
11 |
101,054,973 (GRCm39) |
unclassified |
probably benign |
|
R3112:Plekhh3
|
UTSW |
11 |
101,054,973 (GRCm39) |
unclassified |
probably benign |
|
R4882:Plekhh3
|
UTSW |
11 |
101,058,764 (GRCm39) |
missense |
probably null |
1.00 |
R4882:Plekhh3
|
UTSW |
11 |
101,056,009 (GRCm39) |
missense |
probably damaging |
0.96 |
R5290:Plekhh3
|
UTSW |
11 |
101,057,397 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5328:Plekhh3
|
UTSW |
11 |
101,058,484 (GRCm39) |
intron |
probably benign |
|
R6008:Plekhh3
|
UTSW |
11 |
101,055,591 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6028:Plekhh3
|
UTSW |
11 |
101,057,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R6156:Plekhh3
|
UTSW |
11 |
101,061,013 (GRCm39) |
intron |
probably benign |
|
R6952:Plekhh3
|
UTSW |
11 |
101,056,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Plekhh3
|
UTSW |
11 |
101,056,519 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7120:Plekhh3
|
UTSW |
11 |
101,059,064 (GRCm39) |
missense |
probably damaging |
0.96 |
R7324:Plekhh3
|
UTSW |
11 |
101,061,600 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7487:Plekhh3
|
UTSW |
11 |
101,056,405 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7525:Plekhh3
|
UTSW |
11 |
101,057,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R7637:Plekhh3
|
UTSW |
11 |
101,055,153 (GRCm39) |
missense |
unknown |
|
R8345:Plekhh3
|
UTSW |
11 |
101,055,105 (GRCm39) |
missense |
unknown |
|
R8827:Plekhh3
|
UTSW |
11 |
101,058,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R8919:Plekhh3
|
UTSW |
11 |
101,057,225 (GRCm39) |
missense |
probably benign |
0.18 |
R9112:Plekhh3
|
UTSW |
11 |
101,061,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R9549:Plekhh3
|
UTSW |
11 |
101,056,015 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9599:Plekhh3
|
UTSW |
11 |
101,054,972 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGAAGCTGTAAAGACACCTCCCG -3'
(R):5'- AGCTCCTTGATCCTCTGACAAGTCC -3'
Sequencing Primer
(F):5'- ACCTCCCGGTACGGAATC -3'
(R):5'- GACAAGTCCTTACCCGCTG -3'
|
Posted On |
2013-06-11 |