Incidental Mutation 'IGL00500:Plekhh3'
ID |
6021 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00500
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101053505-101062177 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 101056519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043397]
[ENSMUST00000043654]
[ENSMUST00000123864]
[ENSMUST00000129895]
[ENSMUST00000164474]
|
AlphaFold |
Q8VCE9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043397
|
SMART Domains |
Protein: ENSMUSP00000046044 Gene: ENSMUSG00000035172
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
|
SMART Domains |
Protein: ENSMUSP00000137841 Gene: ENSMUSG00000035172
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 |
noncoding transcript
Transcript: ENSMUST00000138942
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156320
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164474
|
SMART Domains |
Protein: ENSMUSP00000127088 Gene: ENSMUSG00000035172
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
A |
G |
7: 119,383,567 (GRCm39) |
E576G |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
Atp6v1a |
T |
C |
16: 43,931,946 (GRCm39) |
Q114R |
probably benign |
Het |
B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
Chrna10 |
A |
T |
7: 101,761,615 (GRCm39) |
C325* |
probably null |
Het |
Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
G2e3 |
A |
G |
12: 51,400,581 (GRCm39) |
|
probably null |
Het |
Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
Ppm1b |
A |
G |
17: 85,310,712 (GRCm39) |
S289G |
probably damaging |
Het |
Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
Rab40c |
T |
C |
17: 26,104,059 (GRCm39) |
E111G |
probably damaging |
Het |
Skint11 |
T |
A |
4: 114,051,906 (GRCm39) |
C85S |
probably benign |
Het |
Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
Other mutations in Plekhh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2012-04-20 |