Incidental Mutation 'R4882:Plekhh3'
| ID |
375343 |
| 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 |
042490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R4882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101053505-101062177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101056009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 47
(A47V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043397]
[ENSMUST00000043654]
[ENSMUST00000123864]
[ENSMUST00000129895]
[ENSMUST00000164474]
|
| AlphaFold |
Q8VCE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043397
AA Change: A430V
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: A430V
| 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 |
probably benign
Transcript: ENSMUST00000129895
AA Change: A430V
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: A430V
| 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 |
probably damaging
Transcript: ENSMUST00000139200
AA Change: A47V
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156320
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164474
AA Change: A430V
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: A430V
| 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 |
0.1198 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
A |
G |
4: 155,990,112 (GRCm39) |
D764G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,081 (GRCm39) |
I775F |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,261 (GRCm39) |
M1515K |
probably damaging |
Het |
| Aqp4 |
A |
G |
18: 15,531,311 (GRCm39) |
V150A |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,223,129 (GRCm39) |
|
probably null |
Het |
| Bap1 |
C |
T |
14: 30,973,678 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
G |
8: 15,092,016 (GRCm39) |
V279A |
probably benign |
Het |
| Cacng8 |
T |
C |
7: 3,460,669 (GRCm39) |
Y151H |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,389 (GRCm39) |
S726P |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,380 (GRCm39) |
T104A |
probably benign |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Ceacam13 |
A |
G |
7: 17,746,997 (GRCm39) |
H150R |
probably benign |
Het |
| Cebpzos |
T |
C |
17: 79,227,220 (GRCm39) |
Y65H |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,624,683 (GRCm39) |
M630L |
probably benign |
Het |
| Dop1b |
G |
T |
16: 93,549,802 (GRCm39) |
R247L |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,043,069 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
T |
C |
11: 17,896,174 (GRCm39) |
S648G |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,936 (GRCm38) |
D2022G |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,830,059 (GRCm39) |
N701K |
probably damaging |
Het |
| H2-Eb2 |
C |
T |
17: 34,553,230 (GRCm39) |
H139Y |
probably benign |
Het |
| Hbb-bh2 |
A |
T |
7: 103,488,455 (GRCm39) |
V114E |
probably damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,540 (GRCm39) |
Q28L |
probably benign |
Het |
| Inca1 |
T |
C |
11: 70,579,566 (GRCm39) |
T188A |
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,846,496 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,214,369 (GRCm39) |
H238Q |
probably benign |
Het |
| Lpin1 |
G |
C |
12: 16,588,537 (GRCm39) |
F851L |
probably damaging |
Het |
| Map3k9 |
C |
T |
12: 81,770,936 (GRCm39) |
R884Q |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,495 (GRCm39) |
Q818* |
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,164,173 (GRCm39) |
|
probably null |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nppa |
G |
T |
4: 148,085,544 (GRCm39) |
M50I |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,988,756 (GRCm39) |
N665K |
possibly damaging |
Het |
| Prpf19 |
T |
C |
19: 10,876,323 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,456 (GRCm39) |
V651E |
possibly damaging |
Het |
| Sgpl1 |
T |
C |
10: 60,948,044 (GRCm39) |
N171S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slx4 |
T |
C |
16: 3,798,860 (GRCm39) |
|
probably null |
Het |
| Smchd1 |
T |
A |
17: 71,665,234 (GRCm39) |
|
probably benign |
Het |
| Snca |
A |
G |
6: 60,792,719 (GRCm39) |
V63A |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,390,695 (GRCm39) |
Q92L |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,616,401 (GRCm39) |
V73A |
probably damaging |
Het |
| Usp38 |
G |
A |
8: 81,708,606 (GRCm39) |
Q991* |
probably null |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,866 (GRCm39) |
V673E |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,710 (GRCm39) |
Y2048H |
unknown |
Het |
| Zfp759 |
T |
A |
13: 67,287,354 (GRCm39) |
Y302N |
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 |
|
|
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 |
|
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'- GGCACGCCTAGATAAACGTG -3'
(R):5'- GGGTCTCCAGTACAGTATACACC -3'
Sequencing Primer
(F):5'- CGCCTAGATAAACGTGCTCAGTG -3'
(R):5'- CAGTACAGTATACACCCTTTTTAGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation