Incidental Mutation 'IGL03412:Plcz1'
ID |
421842 |
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 # |
IGL03412
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 139961823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 243
(Y243D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000129986]
[ENSMUST00000137148]
[ENSMUST00000149931]
|
AlphaFold |
Q8K4D7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032356
AA Change: Y243D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032356 Gene: ENSMUSG00000030230 AA Change: Y243D
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149931
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,455,390 (GRCm39) |
R736* |
probably null |
Het |
Agpat2 |
T |
C |
2: 26,483,673 (GRCm39) |
T255A |
probably benign |
Het |
Akap3 |
G |
A |
6: 126,841,688 (GRCm39) |
M102I |
probably benign |
Het |
Cd300lb |
C |
A |
11: 114,819,206 (GRCm39) |
R5M |
probably damaging |
Het |
Chrna5 |
A |
T |
9: 54,911,719 (GRCm39) |
D69V |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,249,508 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
A |
T |
10: 59,725,895 (GRCm39) |
H60L |
probably benign |
Het |
Dnal1 |
T |
A |
12: 84,182,441 (GRCm39) |
M1K |
probably null |
Het |
Exoc7 |
C |
T |
11: 116,180,101 (GRCm39) |
V655M |
possibly damaging |
Het |
Fastkd3 |
A |
G |
13: 68,731,840 (GRCm39) |
R54G |
probably benign |
Het |
Fbln2 |
G |
A |
6: 91,248,763 (GRCm39) |
D1143N |
probably damaging |
Het |
Flii |
C |
T |
11: 60,613,466 (GRCm39) |
V174M |
probably damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,979,375 (GRCm39) |
I388M |
probably damaging |
Het |
Il20rb |
A |
G |
9: 100,357,049 (GRCm39) |
V27A |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,049,344 (GRCm39) |
S320P |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,359,396 (GRCm39) |
S114G |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,552,239 (GRCm39) |
V397A |
probably damaging |
Het |
Man2a2 |
A |
T |
7: 80,016,746 (GRCm39) |
V356D |
probably damaging |
Het |
Mcpt9 |
T |
G |
14: 56,265,484 (GRCm39) |
T72P |
probably damaging |
Het |
Mmd |
T |
C |
11: 90,148,429 (GRCm39) |
|
probably null |
Het |
Mroh2b |
G |
A |
15: 4,973,854 (GRCm39) |
R1124Q |
probably benign |
Het |
Mvp |
T |
C |
7: 126,592,735 (GRCm39) |
D392G |
probably damaging |
Het |
Mycbpap |
T |
A |
11: 94,398,927 (GRCm39) |
|
probably null |
Het |
Myh2 |
A |
G |
11: 67,080,395 (GRCm39) |
H1203R |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,281,726 (GRCm39) |
C816* |
probably null |
Het |
Or4a70 |
T |
A |
2: 89,324,555 (GRCm39) |
I34F |
probably benign |
Het |
Or5an6 |
A |
T |
19: 12,371,743 (GRCm39) |
T39S |
probably damaging |
Het |
Pcdh12 |
C |
T |
18: 38,416,568 (GRCm39) |
V186M |
probably benign |
Het |
Pik3c2a |
C |
T |
7: 116,017,074 (GRCm39) |
E228K |
probably benign |
Het |
Rspo3 |
T |
A |
10: 29,411,270 (GRCm39) |
I19F |
possibly damaging |
Het |
Slc2a12 |
T |
C |
10: 22,540,868 (GRCm39) |
L241P |
probably damaging |
Het |
Slc4a10 |
G |
A |
2: 62,080,887 (GRCm39) |
|
probably benign |
Het |
Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
Sorcs2 |
T |
C |
5: 36,203,848 (GRCm39) |
D549G |
probably damaging |
Het |
Srsf12 |
G |
A |
4: 33,230,929 (GRCm39) |
R141Q |
probably damaging |
Het |
Stab1 |
T |
G |
14: 30,876,364 (GRCm39) |
E908D |
probably benign |
Het |
Stat6 |
A |
T |
10: 127,494,074 (GRCm39) |
M634L |
probably benign |
Het |
Tex21 |
A |
G |
12: 76,291,780 (GRCm39) |
|
probably null |
Het |
Tsc2 |
C |
A |
17: 24,816,042 (GRCm39) |
R1715L |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,726,480 (GRCm39) |
I693V |
probably benign |
Het |
Vmn1r5 |
A |
T |
6: 56,962,918 (GRCm39) |
M198L |
possibly damaging |
Het |
Vmn1r50 |
T |
C |
6: 90,085,007 (GRCm39) |
Y251H |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
Wdr3 |
G |
T |
3: 100,059,293 (GRCm39) |
T342K |
probably benign |
Het |
Zbtb44 |
A |
G |
9: 30,964,763 (GRCm39) |
T58A |
probably benign |
Het |
Zeb2 |
A |
G |
2: 44,892,720 (GRCm39) |
|
probably benign |
Het |
Zmym2 |
C |
T |
14: 57,197,176 (GRCm39) |
Q1315* |
probably null |
Het |
Zmym6 |
T |
C |
4: 126,986,731 (GRCm39) |
I137T |
probably 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 |
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 |
2016-08-02 |