Incidental Mutation 'R5359:Plcz1'
ID |
424236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcz1
|
Ensembl Gene |
ENSMUSG00000030230 |
Gene Name |
phospholipase C, zeta 1 |
Synonyms |
1700041H07Rik |
MMRRC Submission |
042938-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5359 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139974178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 88
(Y88C)
|
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: Y88C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032356 Gene: ENSMUSG00000030230 AA Change: Y88C
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204787
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5b1 |
T |
A |
19: 5,619,126 (GRCm39) |
I182N |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,840,762 (GRCm39) |
C701* |
probably null |
Het |
Bcr |
T |
A |
10: 75,001,917 (GRCm39) |
F940L |
probably damaging |
Het |
Cav2 |
A |
T |
6: 17,287,064 (GRCm39) |
|
probably benign |
Het |
Cdk2 |
T |
C |
10: 128,539,857 (GRCm39) |
|
probably benign |
Het |
Clic4 |
G |
A |
4: 134,944,446 (GRCm39) |
A243V |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,838,296 (GRCm39) |
V99D |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,497,169 (GRCm39) |
E1110G |
probably damaging |
Het |
Dhx30 |
T |
C |
9: 109,922,203 (GRCm39) |
N160D |
probably damaging |
Het |
Dnai7 |
T |
G |
6: 145,142,618 (GRCm39) |
T120P |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,890,472 (GRCm39) |
M268T |
possibly damaging |
Het |
Dspp |
T |
A |
5: 104,323,752 (GRCm39) |
D298E |
probably damaging |
Het |
Elane |
A |
G |
10: 79,722,870 (GRCm39) |
E92G |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,272,164 (GRCm39) |
|
probably null |
Het |
Gm1968 |
A |
T |
16: 29,777,617 (GRCm39) |
|
noncoding transcript |
Het |
Hydin |
T |
A |
8: 111,265,004 (GRCm39) |
V2729E |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,416,707 (GRCm39) |
T106A |
probably benign |
Het |
Kcnj6 |
G |
C |
16: 94,633,312 (GRCm39) |
Y248* |
probably null |
Het |
Mllt3 |
A |
G |
4: 87,759,164 (GRCm39) |
S295P |
probably benign |
Het |
Or2w1b |
A |
C |
13: 21,300,437 (GRCm39) |
T192P |
probably damaging |
Het |
Pex11b |
G |
A |
3: 96,551,229 (GRCm39) |
C224Y |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,599,121 (GRCm39) |
Y79C |
probably damaging |
Het |
Pole |
A |
G |
5: 110,480,354 (GRCm39) |
N99S |
probably benign |
Het |
Pyroxd1 |
T |
G |
6: 142,307,717 (GRCm39) |
Y496D |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,689,565 (GRCm39) |
L68P |
probably damaging |
Het |
Rgs13 |
T |
A |
1: 144,015,322 (GRCm39) |
M132L |
probably damaging |
Het |
RP24-187P11.4 |
T |
G |
9: 109,349,944 (GRCm39) |
|
noncoding transcript |
Het |
Rsph4a |
A |
G |
10: 33,784,232 (GRCm39) |
T285A |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,606,186 (GRCm39) |
|
probably null |
Het |
Slc30a1 |
T |
A |
1: 191,641,865 (GRCm39) |
*504R |
probably null |
Het |
Spcs1 |
T |
C |
14: 30,722,074 (GRCm39) |
R156G |
probably damaging |
Het |
Supv3l1 |
A |
G |
10: 62,268,178 (GRCm39) |
F556L |
probably damaging |
Het |
Thumpd2 |
C |
T |
17: 81,334,206 (GRCm39) |
V461M |
probably benign |
Het |
Timm50 |
A |
G |
7: 28,007,592 (GRCm39) |
L158P |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,649,731 (GRCm39) |
|
silent |
Het |
Ttn |
G |
A |
2: 76,726,147 (GRCm39) |
Q1807* |
probably null |
Het |
Zdhhc14 |
A |
G |
17: 5,543,821 (GRCm39) |
I34V |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,394,814 (GRCm39) |
M506K |
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 |
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 |
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'- CTTTTCAAATGAATACACAGCCAGG -3'
(R):5'- TGGATGCAGCATGAGTTTAACTTG -3'
Sequencing Primer
(F):5'- TACACAGCCAGGTTTTTAAGAGG -3'
(R):5'- TCATATATGAATACTGTGACGCTTCC -3'
|
Posted On |
2016-08-04 |