Incidental Mutation 'R6252:Plcz1'
| ID |
506281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcz1
|
| Ensembl Gene |
ENSMUSG00000030230 |
| Gene Name |
phospholipase C, zeta 1 |
| Synonyms |
1700041H07Rik |
| MMRRC Submission |
044369-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 139953329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000129986]
[ENSMUST00000137148]
|
| AlphaFold |
Q8K4D7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032356
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
80 |
162 |
9.6e-26 |
PFAM |
|
PLCXc
|
163 |
307 |
5.17e-72 |
SMART |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
PLCYc
|
386 |
502 |
1.52e-51 |
SMART |
|
C2
|
521 |
625 |
2.06e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137148
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous knockout mice display normal spermatogenesis and sperm motility but are sub-fertile because of a failure to induce Ca2+ oscillations in oocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
| Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
| AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
| Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
| Crispld1 |
A |
G |
1: 17,819,731 (GRCm39) |
E243G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,826,499 (GRCm39) |
M96L |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
| Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
| Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
| Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
| Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
| Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,710,373 (GRCm39) |
V5A |
probably benign |
Het |
| Rsph10b |
T |
A |
5: 143,873,939 (GRCm39) |
D13E |
possibly damaging |
Het |
| Slc44a3 |
T |
A |
3: 121,307,386 (GRCm39) |
D200V |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
| St7l |
T |
C |
3: 104,826,819 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
| Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
| Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
| Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
| Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
| Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
probably benign |
Het |
|
| Other mutations in Plcz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Plcz1
|
APN |
6 |
139,947,982 (GRCm39) |
splice site |
probably benign |
|
|
IGL01825:Plcz1
|
APN |
6 |
139,949,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01885:Plcz1
|
APN |
6 |
139,947,837 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02539:Plcz1
|
APN |
6 |
139,938,690 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02754:Plcz1
|
APN |
6 |
139,956,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03379:Plcz1
|
APN |
6 |
139,936,490 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03412:Plcz1
|
APN |
6 |
139,961,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
helium
|
UTSW |
6 |
139,961,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Plcz1
|
UTSW |
6 |
139,986,290 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Plcz1
|
UTSW |
6 |
139,966,174 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0078:Plcz1
|
UTSW |
6 |
139,935,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Plcz1
|
UTSW |
6 |
139,953,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Plcz1
|
UTSW |
6 |
139,936,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Plcz1
|
UTSW |
6 |
139,968,956 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0599:Plcz1
|
UTSW |
6 |
139,974,268 (GRCm39) |
missense |
probably benign |
|
|
R0608:Plcz1
|
UTSW |
6 |
139,936,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Plcz1
|
UTSW |
6 |
139,938,775 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2212:Plcz1
|
UTSW |
6 |
139,947,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2895:Plcz1
|
UTSW |
6 |
139,968,877 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3413:Plcz1
|
UTSW |
6 |
139,947,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4239:Plcz1
|
UTSW |
6 |
139,986,344 (GRCm39) |
splice site |
probably null |
|
|
R4441:Plcz1
|
UTSW |
6 |
139,936,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4889:Plcz1
|
UTSW |
6 |
139,953,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Plcz1
|
UTSW |
6 |
139,974,277 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5175:Plcz1
|
UTSW |
6 |
139,985,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5359:Plcz1
|
UTSW |
6 |
139,974,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Plcz1
|
UTSW |
6 |
139,938,778 (GRCm39) |
splice site |
probably null |
|
|
R5505:Plcz1
|
UTSW |
6 |
139,961,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5558:Plcz1
|
UTSW |
6 |
139,985,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5581:Plcz1
|
UTSW |
6 |
139,968,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6569:Plcz1
|
UTSW |
6 |
139,953,433 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6750:Plcz1
|
UTSW |
6 |
139,974,164 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7073:Plcz1
|
UTSW |
6 |
139,968,849 (GRCm39) |
nonsense |
probably null |
|
|
R7204:Plcz1
|
UTSW |
6 |
139,956,150 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7309:Plcz1
|
UTSW |
6 |
139,968,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:Plcz1
|
UTSW |
6 |
139,959,312 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7503:Plcz1
|
UTSW |
6 |
139,936,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Plcz1
|
UTSW |
6 |
139,961,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Plcz1
|
UTSW |
6 |
139,968,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Plcz1
|
UTSW |
6 |
139,974,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Plcz1
|
UTSW |
6 |
139,949,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Plcz1
|
UTSW |
6 |
139,961,903 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9052:Plcz1
|
UTSW |
6 |
139,968,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9203:Plcz1
|
UTSW |
6 |
139,953,481 (GRCm39) |
nonsense |
probably null |
|
|
R9336:Plcz1
|
UTSW |
6 |
139,985,446 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9598:Plcz1
|
UTSW |
6 |
139,985,484 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9779:Plcz1
|
UTSW |
6 |
139,947,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1176:Plcz1
|
UTSW |
6 |
139,959,402 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTCAGTGCTCTGTAGTTCTG -3'
(R):5'- TTGGGGAGATAACCTTAAGAAACTG -3'
Sequencing Primer
(F):5'- CAGTGCTCTGTAGTTCTGGTCTAC -3'
(R):5'- GCTGAGAAGTTCCGAAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation