Incidental Mutation 'IGL01776:Plcxd1'
| ID |
153877 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plcxd1
|
| Ensembl Gene |
ENSMUSG00000064247 |
| Gene Name |
phosphatidylinositol-specific phospholipase C, X domain containing 1 |
| Synonyms |
LOC231597, A330045H12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110247835-110253819 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 110249246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086687]
[ENSMUST00000112534]
[ENSMUST00000135409]
[ENSMUST00000141066]
[ENSMUST00000140538]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077220
|
| SMART Domains |
Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
83 |
N/A |
INTRINSIC |
|
Pfam:GTP-bdg_N
|
107 |
198 |
9.1e-15 |
PFAM |
|
Pfam:GTP-bdg_M
|
200 |
279 |
1.9e-17 |
PFAM |
|
Pfam:MMR_HSR1
|
286 |
404 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086687
|
| SMART Domains |
Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
48 |
355 |
1e-70 |
SMART |
|
PDB:1AOD|A
|
57 |
228 |
1e-12 |
PDB |
|
Blast:PLCXc
|
70 |
228 |
8e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112534
|
| SMART Domains |
Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
1 |
111 |
2e-21 |
SMART |
|
PDB:1AOD|A
|
7 |
95 |
3e-6 |
PDB |
|
Blast:PLCXc
|
15 |
121 |
4e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135409
|
| SMART Domains |
Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
coiled coil region
|
185 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141066
|
| SMART Domains |
Protein: ENSMUSP00000119248
Gene: ENSMUSG00000064247
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
1 |
97 |
6e-20 |
SMART |
|
PDB:1AOD|A
|
7 |
95 |
3e-6 |
PDB |
|
Blast:PLCXc
|
15 |
99 |
5e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140538
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
| Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
| Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
| Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
| Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
| Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
| Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
|
| Other mutations in Plcxd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02268:Plcxd1
|
APN |
5 |
110,248,140 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02870:Plcxd1
|
APN |
5 |
110,249,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Plcxd1
|
UTSW |
5 |
110,249,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1366:Plcxd1
|
UTSW |
5 |
110,250,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Plcxd1
|
UTSW |
5 |
110,251,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2698:Plcxd1
|
UTSW |
5 |
110,250,349 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5135:Plcxd1
|
UTSW |
5 |
110,249,229 (GRCm39) |
intron |
probably benign |
|
|
R5604:Plcxd1
|
UTSW |
5 |
110,250,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6190:Plcxd1
|
UTSW |
5 |
110,250,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6345:Plcxd1
|
UTSW |
5 |
110,248,165 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6351:Plcxd1
|
UTSW |
5 |
110,250,033 (GRCm39) |
splice site |
probably null |
|
|
R6696:Plcxd1
|
UTSW |
5 |
110,249,751 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7743:Plcxd1
|
UTSW |
5 |
110,250,369 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7959:Plcxd1
|
UTSW |
5 |
110,251,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Plcxd1
|
UTSW |
5 |
110,250,180 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8865:Plcxd1
|
UTSW |
5 |
110,249,841 (GRCm39) |
unclassified |
probably benign |
|
|
R8996:Plcxd1
|
UTSW |
5 |
110,250,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Plcxd1
|
UTSW |
5 |
110,251,368 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9682:Plcxd1
|
UTSW |
5 |
110,251,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation