Incidental Mutation 'IGL01825:Plcz1'
ID |
154657 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plcz1
|
Ensembl Gene |
ENSMUSG00000030230 |
Gene Name |
phospholipase C, zeta 1 |
Synonyms |
1700041H07Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01825
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139949642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 451
(D451G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000129986]
[ENSMUST00000137148]
|
AlphaFold |
Q8K4D7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032356
AA Change: D451G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000032356 Gene: ENSMUSG00000030230 AA Change: D451G
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 |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,069,217 (GRCm39) |
E222G |
probably damaging |
Het |
Aftph |
T |
A |
11: 20,676,569 (GRCm39) |
I347F |
possibly damaging |
Het |
Braf |
T |
C |
6: 39,616,524 (GRCm39) |
D549G |
probably damaging |
Het |
Cnbd2 |
T |
A |
2: 156,180,629 (GRCm39) |
L142Q |
probably damaging |
Het |
Ctbp1 |
C |
T |
5: 33,416,477 (GRCm39) |
|
probably null |
Het |
Cuta |
T |
C |
17: 27,157,438 (GRCm39) |
I98V |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,108,514 (GRCm39) |
C1226* |
probably null |
Het |
Dnah6 |
T |
C |
6: 73,042,759 (GRCm39) |
E3221G |
probably damaging |
Het |
Grm3 |
A |
G |
5: 9,561,600 (GRCm39) |
L750P |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,307,089 (GRCm39) |
Y970H |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,066,850 (GRCm39) |
Y470* |
probably null |
Het |
Kmt2c |
T |
A |
5: 25,515,594 (GRCm39) |
I2750F |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,845,886 (GRCm39) |
T772S |
probably damaging |
Het |
Mthfd2 |
T |
C |
6: 83,287,493 (GRCm39) |
T191A |
probably benign |
Het |
Or5p78 |
C |
A |
7: 108,212,261 (GRCm39) |
T249K |
probably damaging |
Het |
Pfkp |
A |
T |
13: 6,671,014 (GRCm39) |
N175K |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,471,210 (GRCm39) |
C994S |
probably damaging |
Het |
Ptdss1 |
T |
C |
13: 67,135,886 (GRCm39) |
I381T |
probably benign |
Het |
Scgb2b24 |
G |
T |
7: 33,438,652 (GRCm39) |
T20K |
probably damaging |
Het |
Slc23a1 |
A |
T |
18: 35,757,256 (GRCm39) |
W272R |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,167 (GRCm39) |
T1428I |
probably benign |
Het |
Tnfsf9 |
A |
G |
17: 57,414,335 (GRCm39) |
D254G |
possibly damaging |
Het |
Ttc4 |
C |
T |
4: 106,528,816 (GRCm39) |
|
probably null |
Het |
Xdh |
A |
G |
17: 74,198,240 (GRCm39) |
Y1216H |
probably damaging |
Het |
Zbtb21 |
G |
T |
16: 97,753,889 (GRCm39) |
N159K |
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 |
|
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 |
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 |
|
Posted On |
2014-02-04 |