Incidental Mutation 'R1366:Plcxd1'
| ID |
156036 |
| 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 |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110247835-110253819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 110250096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 184
(I184L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086687]
[ENSMUST00000112534]
[ENSMUST00000141066]
[ENSMUST00000140538]
[ENSMUST00000135409]
|
| 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: I184L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: I184L
| 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 |
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: ENSMUST00000144162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138881
|
| 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 |
probably benign
Transcript: ENSMUST00000140538
|
| 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 |
|
| Meta Mutation Damage Score |
0.2839 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
| Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
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 |
|
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 |
|
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'- ACATGATGTACACGAAGGCGCTG -3'
(R):5'- TCATCCTCGTAGGACACGATGACC -3'
Sequencing Primer
(F):5'- ggataggaagaggaggaagagg -3'
(R):5'- TAGGACACGATGACCTGCTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation