Incidental Mutation 'IGL02743:Plcxd3'
| ID |
305986 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plcxd3
|
| Ensembl Gene |
ENSMUSG00000049148 |
| Gene Name |
phosphatidylinositol-specific phospholipase C, X domain containing 3 |
| Synonyms |
B130016O10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
4404973-4605035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4604285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 298
(V298I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061925]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061925
AA Change: V298I
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053553
Gene: ENSMUSG00000049148
AA Change: V298I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
2 |
311 |
2e-62 |
SMART |
|
PDB:1AOD|A
|
7 |
166 |
1e-8 |
PDB |
|
Blast:PLCXc
|
23 |
148 |
3e-17 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
A |
C |
5: 88,612,343 (GRCm39) |
D188A |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,270,054 (GRCm39) |
E365G |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,423,001 (GRCm39) |
Q151* |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,802,183 (GRCm39) |
D2217G |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 9,984,115 (GRCm39) |
E166V |
probably damaging |
Het |
| Cyp4f15 |
T |
C |
17: 32,918,926 (GRCm39) |
S319P |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,792,821 (GRCm39) |
V279I |
possibly damaging |
Het |
| Edrf1 |
A |
G |
7: 133,258,220 (GRCm39) |
|
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,786,052 (GRCm39) |
F313I |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,221 (GRCm39) |
D245G |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,661 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
T |
3: 32,628,439 (GRCm39) |
H690L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,159,240 (GRCm39) |
|
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,606 (GRCm39) |
L182* |
probably null |
Het |
| Or4d10b |
A |
G |
19: 12,036,811 (GRCm39) |
F102L |
probably damaging |
Het |
| Or4k45 |
T |
A |
2: 111,394,888 (GRCm39) |
R300S |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,505 (GRCm39) |
I258N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or8g35 |
G |
A |
9: 39,381,542 (GRCm39) |
T160I |
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,084,441 (GRCm39) |
S302F |
probably damaging |
Het |
| Serpine2 |
A |
T |
1: 79,779,272 (GRCm39) |
F149I |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,930,154 (GRCm39) |
L485P |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,889,988 (GRCm39) |
H2118L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stxbp1 |
T |
C |
2: 32,709,913 (GRCm39) |
D60G |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,510,795 (GRCm39) |
E582D |
probably benign |
Het |
| Tmem131 |
T |
G |
1: 36,832,232 (GRCm39) |
I1802L |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,770,696 (GRCm39) |
K829E |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,575,943 (GRCm39) |
M213T |
probably damaging |
Het |
| Wnk2 |
A |
G |
13: 49,248,920 (GRCm39) |
V377A |
probably damaging |
Het |
| Wwox |
T |
G |
8: 116,078,443 (GRCm39) |
Y375D |
probably damaging |
Het |
|
| Other mutations in Plcxd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02642:Plcxd3
|
APN |
15 |
4,546,122 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03230:Plcxd3
|
APN |
15 |
4,546,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0599:Plcxd3
|
UTSW |
15 |
4,546,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0724:Plcxd3
|
UTSW |
15 |
4,546,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0939:Plcxd3
|
UTSW |
15 |
4,546,344 (GRCm39) |
nonsense |
probably null |
|
|
R1536:Plcxd3
|
UTSW |
15 |
4,546,093 (GRCm39) |
splice site |
probably benign |
|
|
R1648:Plcxd3
|
UTSW |
15 |
4,405,291 (GRCm39) |
missense |
probably benign |
|
|
R1858:Plcxd3
|
UTSW |
15 |
4,546,093 (GRCm39) |
splice site |
probably benign |
|
|
R2418:Plcxd3
|
UTSW |
15 |
4,604,245 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2419:Plcxd3
|
UTSW |
15 |
4,604,245 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4640:Plcxd3
|
UTSW |
15 |
4,546,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4702:Plcxd3
|
UTSW |
15 |
4,405,269 (GRCm39) |
missense |
probably benign |
|
|
R5372:Plcxd3
|
UTSW |
15 |
4,604,270 (GRCm39) |
missense |
probably benign |
|
|
R5705:Plcxd3
|
UTSW |
15 |
4,546,676 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6302:Plcxd3
|
UTSW |
15 |
4,546,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Plcxd3
|
UTSW |
15 |
4,546,200 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7283:Plcxd3
|
UTSW |
15 |
4,546,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7856:Plcxd3
|
UTSW |
15 |
4,546,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8233:Plcxd3
|
UTSW |
15 |
4,546,317 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8272:Plcxd3
|
UTSW |
15 |
4,546,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8782:Plcxd3
|
UTSW |
15 |
4,546,250 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9517:Plcxd3
|
UTSW |
15 |
4,405,160 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation