Incidental Mutation 'R7959:Plcxd1'
ID |
649996 |
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 |
046003-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R7959 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
110247835-110253819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110251422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 333
(I333F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086687]
[ENSMUST00000112534]
[ENSMUST00000135409]
[ENSMUST00000140538]
[ENSMUST00000141066]
|
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 damaging
Transcript: ENSMUST00000086687
AA Change: I333F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083892 Gene: ENSMUSG00000064247 AA Change: I333F
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 |
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
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,988,013 (GRCm39) |
V3099A |
possibly damaging |
Het |
Apba2 |
A |
G |
7: 64,345,571 (GRCm39) |
M254V |
probably benign |
Het |
Bbs7 |
C |
T |
3: 36,657,085 (GRCm39) |
D248N |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,096,728 (GRCm39) |
I1457V |
probably benign |
Het |
Cldn8 |
A |
G |
16: 88,359,829 (GRCm39) |
V32A |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,484,780 (GRCm39) |
P496T |
unknown |
Het |
Cyp27a1 |
T |
A |
1: 74,776,236 (GRCm39) |
N417K |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,682,621 (GRCm39) |
D283G |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,933,627 (GRCm39) |
K4878E |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,774,737 (GRCm39) |
M746K |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,195,967 (GRCm39) |
Y556N |
unknown |
Het |
Fsip2 |
T |
C |
2: 82,816,120 (GRCm39) |
I3951T |
possibly damaging |
Het |
Gigyf1 |
C |
T |
5: 137,522,581 (GRCm39) |
T773I |
probably damaging |
Het |
Heatr6 |
A |
T |
11: 83,672,189 (GRCm39) |
K1066* |
probably null |
Het |
Mdfic |
T |
C |
6: 15,741,070 (GRCm39) |
S142P |
possibly damaging |
Het |
Mettl16 |
A |
G |
11: 74,707,852 (GRCm39) |
I389V |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,125,760 (GRCm39) |
Y57C |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,544,239 (GRCm39) |
|
probably null |
Het |
Or1e1 |
T |
C |
11: 73,244,744 (GRCm39) |
L55P |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,602 (GRCm39) |
*313W |
probably null |
Het |
Or52a24 |
T |
A |
7: 103,382,015 (GRCm39) |
V294D |
probably damaging |
Het |
Or8b1b |
T |
A |
9: 38,376,211 (GRCm39) |
S291R |
probably damaging |
Het |
Or9s13 |
T |
A |
1: 92,548,029 (GRCm39) |
C134S |
probably damaging |
Het |
Pierce1 |
A |
T |
2: 28,352,369 (GRCm39) |
N131K |
probably damaging |
Het |
Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
Plxna2 |
C |
A |
1: 194,493,270 (GRCm39) |
S1848R |
probably damaging |
Het |
Pnpla2 |
T |
A |
7: 141,037,406 (GRCm39) |
D136E |
probably benign |
Het |
Polr1b |
T |
A |
2: 128,950,014 (GRCm39) |
F245I |
probably damaging |
Het |
Prmt9 |
T |
A |
8: 78,287,594 (GRCm39) |
I245N |
probably damaging |
Het |
Serhl |
A |
T |
15: 82,986,073 (GRCm39) |
D62V |
probably damaging |
Het |
Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,993,679 (GRCm39) |
R1044* |
probably null |
Het |
Strbp |
G |
A |
2: 37,530,906 (GRCm39) |
T116I |
probably benign |
Het |
Supt5 |
T |
C |
7: 28,015,224 (GRCm39) |
D977G |
probably benign |
Het |
Tmem184c |
A |
G |
8: 78,329,532 (GRCm39) |
V176A |
possibly damaging |
Het |
Uhrf2 |
A |
G |
19: 30,063,660 (GRCm39) |
N541S |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,755,949 (GRCm39) |
F7Y |
possibly damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,169,040 (GRCm39) |
R697G |
probably benign |
Het |
Zfp994 |
A |
G |
17: 22,421,761 (GRCm39) |
V18A |
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 |
|
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 |
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'- CGGTCACATAACATGGCATCAC -3'
(R):5'- TGCGAACAGAAGTGACACATAC -3'
Sequencing Primer
(F):5'- GAGAACCTGTGCTACATC -3'
(R):5'- GCCACCATGTGTTCTGCAACAG -3'
|
Posted On |
2020-09-15 |