Incidental Mutation 'R7856:Plcxd3'
| ID |
607248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcxd3
|
| Ensembl Gene |
ENSMUSG00000049148 |
| Gene Name |
phosphatidylinositol-specific phospholipase C, X domain containing 3 |
| Synonyms |
B130016O10Rik |
| MMRRC Submission |
045909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
4404973-4605035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4546581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 195
(Y195F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061925]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061925
AA Change: Y195F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053553
Gene: ENSMUSG00000049148
AA Change: Y195F
| 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 |
|
| Meta Mutation Damage Score |
0.3322 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
| Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
| Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
| Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
| Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
| Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
| Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
| Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
| Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
| Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
| Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
| Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
probably benign |
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 |
|
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 |
|
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'- TATTCAGTGCCAAAGTCAACGAG -3'
(R):5'- CTTGCTTTGGGTGTCAGCAC -3'
Sequencing Primer
(F):5'- CCACCACAAAGAGGTAGTATTCTTGG -3'
(R):5'- GTGTCAGCACCACCTGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation