Incidental Mutation 'R6696:Plcxd1'
ID |
528575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcxd1
|
Ensembl Gene |
ENSMUSG00000064247 |
Gene Name |
phosphatidylinositol-specific phospholipase C, X domain containing 1 |
Synonyms |
LOC231597, A330045H12Rik |
MMRRC Submission |
044814-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6696 (G1)
|
Quality Score |
120.008 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110247835-110253819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110249751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 151
(N151S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086687]
[ENSMUST00000112534]
[ENSMUST00000141066]
[ENSMUST00000135409]
[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 |
possibly damaging
Transcript: ENSMUST00000086687
AA Change: N151S
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083892 Gene: ENSMUSG00000064247 AA Change: N151S
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 |
possibly damaging
Transcript: ENSMUST00000112534
AA Change: N101S
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108153 Gene: ENSMUSG00000064247 AA Change: N101S
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: ENSMUST00000131774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138507
|
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: ENSMUST00000136722
|
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: ENSMUST00000140538
|
Meta Mutation Damage Score |
0.2645 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap25 |
G |
T |
6: 87,442,633 (GRCm39) |
H350Q |
probably damaging |
Het |
Arhgap25 |
C |
A |
6: 87,443,545 (GRCm39) |
V305F |
probably damaging |
Het |
Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
Eipr1 |
C |
A |
12: 28,909,357 (GRCm39) |
T208N |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,048,850 (GRCm39) |
T606A |
probably benign |
Het |
Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
Imp4 |
T |
C |
1: 34,483,327 (GRCm39) |
V247A |
probably benign |
Het |
Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
Klra6 |
A |
G |
6: 129,993,696 (GRCm39) |
F192L |
probably benign |
Het |
Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
Mms19 |
C |
A |
19: 41,942,452 (GRCm39) |
V359L |
probably benign |
Het |
Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
Vmn2r7 |
A |
T |
3: 64,614,495 (GRCm39) |
F440I |
probably benign |
Het |
Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
probably damaging |
Het |
|
Other mutations in Plcxd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01776:Plcxd1
|
APN |
5 |
110,249,246 (GRCm39) |
splice site |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGGTCCCGGTAACATTTG -3'
(R):5'- TGTGTCCACTCAGACTCTCG -3'
Sequencing Primer
(F):5'- CCCGGTAACATTTGTAGGGGC -3'
(R):5'- ACTCAGACTCTCGATCCTGC -3'
|
Posted On |
2018-07-24 |