Incidental Mutation 'R0005:Plcz1'
ID |
63928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcz1
|
Ensembl Gene |
ENSMUSG00000030230 |
Gene Name |
phospholipase C, zeta 1 |
Synonyms |
1700041H07Rik |
MMRRC Submission |
038301-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0005 (G1)
|
Quality Score |
153 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 139986290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000043797]
[ENSMUST00000129986]
[ENSMUST00000137148]
[ENSMUST00000149931]
|
AlphaFold |
Q8K4D7 |
Predicted Effect |
probably benign
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: ENSMUST00000043797
|
SMART Domains |
Protein: ENSMUSP00000038562 Gene: ENSMUSG00000041791
Domain | Start | End | E-Value | Type |
Pfam:F-actin_cap_A
|
12 |
278 |
7.3e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129986
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149931
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204342
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
98% (63/64) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2l |
A |
G |
7: 126,097,446 (GRCm39) |
F201L |
probably damaging |
Het |
Camsap3 |
T |
A |
8: 3,654,288 (GRCm39) |
F653I |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,789,584 (GRCm39) |
T595A |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,281,853 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,143,637 (GRCm39) |
T442A |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,484,880 (GRCm39) |
|
probably null |
Het |
Enpp4 |
T |
C |
17: 44,413,066 (GRCm39) |
N156S |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,874,162 (GRCm39) |
N3485I |
probably damaging |
Het |
Gabra2 |
C |
T |
5: 71,130,779 (GRCm39) |
V350I |
probably benign |
Het |
H2-T5 |
G |
T |
17: 36,473,084 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,004,493 (GRCm39) |
T364A |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,266,384 (GRCm39) |
V402E |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,812,440 (GRCm39) |
D959G |
probably benign |
Het |
Mag |
T |
A |
7: 30,607,779 (GRCm39) |
|
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,892,238 (GRCm39) |
F1006L |
probably benign |
Het |
Mapre2 |
G |
A |
18: 23,986,750 (GRCm39) |
G54D |
probably damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myadm |
C |
T |
7: 3,346,080 (GRCm39) |
Q281* |
probably null |
Het |
Mylk3 |
A |
T |
8: 86,053,832 (GRCm39) |
V625D |
possibly damaging |
Het |
Nlrp9a |
T |
C |
7: 26,273,213 (GRCm39) |
|
probably benign |
Het |
Or8d6 |
A |
G |
9: 39,854,252 (GRCm39) |
D232G |
probably benign |
Het |
Plekhg5 |
TCCCCC |
TCC |
4: 152,197,108 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
A |
C |
17: 84,893,861 (GRCm39) |
D892A |
probably benign |
Het |
Ppih |
A |
G |
4: 119,175,798 (GRCm39) |
|
probably benign |
Het |
Pramel13 |
G |
T |
4: 144,122,423 (GRCm39) |
F40L |
probably damaging |
Het |
Rtn4ip1 |
A |
T |
10: 43,808,474 (GRCm39) |
M84L |
probably benign |
Het |
Slc35f4 |
G |
A |
14: 49,559,943 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
G |
T |
4: 129,850,571 (GRCm39) |
D866Y |
possibly damaging |
Het |
Stxbp4 |
C |
T |
11: 90,439,743 (GRCm39) |
R365Q |
possibly damaging |
Het |
Tmed4 |
C |
T |
11: 6,221,781 (GRCm39) |
R185H |
probably damaging |
Het |
Tnfsf9 |
T |
C |
17: 57,414,236 (GRCm39) |
V221A |
possibly damaging |
Het |
Trappc14 |
T |
C |
5: 138,260,916 (GRCm39) |
|
probably null |
Het |
Vsx2 |
C |
A |
12: 84,617,015 (GRCm39) |
P100Q |
possibly damaging |
Het |
Wdr48 |
T |
A |
9: 119,738,500 (GRCm39) |
D53E |
probably benign |
Het |
Zfp335 |
T |
A |
2: 164,751,222 (GRCm39) |
S115C |
possibly damaging |
Het |
Zfp608 |
G |
A |
18: 55,028,592 (GRCm39) |
P1274S |
possibly damaging |
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 |
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 |
R6252:Plcz1
|
UTSW |
6 |
139,953,329 (GRCm39) |
critical splice donor site |
probably null |
|
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'- TGAACTCCAAGATTCTCTCCCCGAC -3'
(R):5'- TTTCCCTAGAAAAGCGGTAGCAGC -3'
Sequencing Primer
(F):5'- GGCTACTGTGTGTTCAATAGCAAC -3'
(R):5'- GCGGTAGCAGCGAGAAC -3'
|
Posted On |
2013-07-30 |