Incidental Mutation 'R3111:Plekhh3'
| ID |
263789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhh3
|
| Ensembl Gene |
ENSMUSG00000035172 |
| Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R3111 ()
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101053505-101062177 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 101054973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043397]
[ENSMUST00000043654]
[ENSMUST00000123864]
[ENSMUST00000129895]
[ENSMUST00000164474]
|
| AlphaFold |
Q8VCE9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000043397
AA Change: T627A
|
| SMART Domains |
Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: T627A
| 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 |
unknown
Transcript: ENSMUST00000129895
AA Change: T627A
|
| SMART Domains |
Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: T627A
| 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: T241A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156320
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164474
AA Change: T624A
|
| SMART Domains |
Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: T624A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,420,406 (GRCm39) |
V129A |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nmnat3 |
T |
A |
9: 98,281,533 (GRCm39) |
I45N |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,940,290 (GRCm39) |
I232V |
probably benign |
Het |
| Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,316 (GRCm39) |
V226I |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
probably damaging |
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 |
|
R0559:Plekhh3
|
UTSW |
11 |
101,055,592 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
|
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'- TAGCCCTGGGATAAAGGTGG -3'
(R):5'- AGTTTGCACCGGGACTTTTCC -3'
Sequencing Primer
(F):5'- TAAAGGTGGGGGCTTGGACC -3'
(R):5'- TCCTGGACCGCCTGCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation