Incidental Mutation 'R4640:Plcxd3'
ID |
351623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcxd3
|
Ensembl Gene |
ENSMUSG00000049148 |
Gene Name |
phosphatidylinositol-specific phospholipase C, X domain containing 3 |
Synonyms |
B130016O10Rik |
MMRRC Submission |
041902-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R4640 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
4404973-4605035 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4546725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 243
(F243S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061925]
[ENSMUST00000130332]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061925
AA Change: F243S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000053553 Gene: ENSMUSG00000049148 AA Change: F243S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130332
|
Meta Mutation Damage Score |
0.3462 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
93% (39/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adgrl4 |
T |
C |
3: 151,205,947 (GRCm39) |
|
probably benign |
Het |
Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,894,093 (GRCm39) |
N98S |
probably damaging |
Het |
Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
Cyp2c37 |
A |
T |
19: 40,000,276 (GRCm39) |
D466V |
possibly damaging |
Het |
Dytn |
A |
G |
1: 63,682,507 (GRCm39) |
L380P |
possibly damaging |
Het |
Fam124b |
G |
A |
1: 80,191,243 (GRCm39) |
R47C |
probably damaging |
Het |
Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,698,237 (GRCm39) |
E380G |
probably benign |
Het |
Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
Tmem104 |
T |
A |
11: 115,134,550 (GRCm39) |
V362E |
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 |
IGL02743:Plcxd3
|
APN |
15 |
4,604,285 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTTGCCCAGGAAGTGAGTC -3'
(R):5'- CGGTTTCCCTAGCAAACTAATGC -3'
Sequencing Primer
(F):5'- TTTTGCCCAGGAAGTGAGTCTAAAG -3'
(R):5'- TGCACATAGATAAGGATTTTAGCTTC -3'
|
Posted On |
2015-10-08 |