Incidental Mutation 'IGL02539:Plcz1'
ID |
297653 |
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 # |
IGL02539
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139938690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 554
(N554S)
|
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: N554S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000032356 Gene: ENSMUSG00000030230 AA Change: N554S
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,276,229 (GRCm39) |
Y479* |
probably null |
Het |
Btnl6 |
T |
C |
17: 34,727,288 (GRCm39) |
N414S |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,921,005 (GRCm39) |
N984D |
probably damaging |
Het |
Cfc1 |
A |
T |
1: 34,576,203 (GRCm39) |
|
probably benign |
Het |
Chrm1 |
G |
A |
19: 8,655,675 (GRCm39) |
V127M |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,663,294 (GRCm39) |
L1429P |
probably damaging |
Het |
Erbb3 |
A |
G |
10: 128,420,174 (GRCm39) |
|
probably null |
Het |
Evi5 |
T |
C |
5: 107,963,531 (GRCm39) |
E348G |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,172,619 (GRCm39) |
T2698I |
probably damaging |
Het |
Gas2 |
A |
G |
7: 51,547,038 (GRCm39) |
D63G |
possibly damaging |
Het |
Gm28042 |
A |
G |
2: 119,865,702 (GRCm39) |
D313G |
probably damaging |
Het |
Hivep2 |
T |
A |
10: 14,007,622 (GRCm39) |
S1407T |
probably damaging |
Het |
Ibsp |
T |
A |
5: 104,450,149 (GRCm39) |
M19K |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,634,621 (GRCm39) |
D129N |
probably benign |
Het |
Krtap4-8 |
A |
T |
11: 99,671,196 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,643,210 (GRCm39) |
T870A |
probably damaging |
Het |
Mtmr11 |
C |
A |
3: 96,072,308 (GRCm39) |
|
probably benign |
Het |
Nbas |
C |
A |
12: 13,322,704 (GRCm39) |
|
probably benign |
Het |
Nlrp4b |
A |
G |
7: 10,448,355 (GRCm39) |
D186G |
probably damaging |
Het |
Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,641 (GRCm39) |
I93N |
probably damaging |
Het |
Pdk2 |
T |
C |
11: 94,923,321 (GRCm39) |
K101R |
probably benign |
Het |
Pds5a |
C |
T |
5: 65,823,462 (GRCm39) |
D110N |
probably damaging |
Het |
Pex5 |
A |
T |
6: 124,380,183 (GRCm39) |
D288E |
probably benign |
Het |
Pitrm1 |
A |
G |
13: 6,618,792 (GRCm39) |
D655G |
probably benign |
Het |
Plin4 |
T |
C |
17: 56,413,680 (GRCm39) |
Q315R |
probably damaging |
Het |
Plpp5 |
A |
G |
8: 26,214,215 (GRCm39) |
H244R |
probably benign |
Het |
Ppp1r3a |
C |
T |
6: 14,718,458 (GRCm39) |
V819I |
probably benign |
Het |
Rap1b |
T |
A |
10: 117,658,709 (GRCm39) |
R41S |
possibly damaging |
Het |
Rc3h2 |
T |
A |
2: 37,279,727 (GRCm39) |
S501C |
probably benign |
Het |
Sel1l2 |
G |
T |
2: 140,072,778 (GRCm39) |
A619D |
probably damaging |
Het |
Ska3 |
T |
C |
14: 58,057,968 (GRCm39) |
D128G |
possibly damaging |
Het |
Specc1l |
A |
T |
10: 75,103,342 (GRCm39) |
I889L |
probably benign |
Het |
Ssxb5 |
T |
A |
X: 8,675,087 (GRCm39) |
N130K |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tet1 |
T |
C |
10: 62,648,798 (GRCm39) |
Q267R |
possibly damaging |
Het |
Tlr8 |
T |
A |
X: 166,027,152 (GRCm39) |
H566L |
possibly damaging |
Het |
Tmem132d |
T |
A |
5: 127,861,043 (GRCm39) |
Q1026L |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trp53bp2 |
C |
A |
1: 182,276,256 (GRCm39) |
P746T |
probably damaging |
Het |
Uso1 |
A |
T |
5: 92,335,632 (GRCm39) |
I547F |
probably damaging |
Het |
Zfp687 |
A |
C |
3: 94,918,373 (GRCm39) |
N466K |
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 |
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 |
2015-04-16 |