Incidental Mutation 'R2895:Plcz1'
| ID |
260743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcz1
|
| Ensembl Gene |
ENSMUSG00000030230 |
| Gene Name |
phospholipase C, zeta 1 |
| Synonyms |
1700041H07Rik |
| MMRRC Submission |
040483-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2895 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139968877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 187
(I187T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000129986]
[ENSMUST00000137148]
[ENSMUST00000149931]
|
| AlphaFold |
Q8K4D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032356
AA Change: I187T
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: I187T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,093,252 (GRCm39) |
V1007A |
probably benign |
Het |
| Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
| Akirin1 |
T |
C |
4: 123,631,864 (GRCm39) |
E168G |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,598,667 (GRCm39) |
D44V |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,594,483 (GRCm39) |
I310V |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,935,424 (GRCm39) |
H661R |
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,708,016 (GRCm39) |
R25G |
probably damaging |
Het |
| Cd96 |
G |
T |
16: 45,938,168 (GRCm39) |
T99K |
probably benign |
Het |
| Cep250 |
C |
A |
2: 155,834,042 (GRCm39) |
A1989D |
probably benign |
Het |
| Clasp1 |
T |
G |
1: 118,387,568 (GRCm39) |
V78G |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,312,091 (GRCm39) |
V1302A |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyb5r4 |
C |
T |
9: 86,922,452 (GRCm39) |
Q154* |
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,178,901 (GRCm39) |
F858S |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,332 (GRCm39) |
S68T |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,741,820 (GRCm39) |
|
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,922,562 (GRCm39) |
L688P |
probably damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,749,835 (GRCm39) |
D968G |
possibly damaging |
Het |
| Med16 |
G |
A |
10: 79,739,005 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrps7 |
A |
G |
11: 115,495,865 (GRCm39) |
M98V |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,281,595 (GRCm39) |
I321N |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,344,877 (GRCm39) |
D116G |
possibly damaging |
Het |
| Neu1 |
A |
G |
17: 35,151,758 (GRCm39) |
D184G |
probably benign |
Het |
| Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
| Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcdh19 |
CTGTCTCCTCCA |
C |
X: 132,582,057 (GRCm39) |
|
probably null |
Het |
| Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
T |
17: 55,994,939 (GRCm39) |
I241N |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ptpre |
G |
A |
7: 135,245,587 (GRCm39) |
W11* |
probably null |
Het |
| Rgsl1 |
T |
A |
1: 153,703,294 (GRCm39) |
E154V |
probably damaging |
Het |
| Rnasel |
T |
C |
1: 153,636,522 (GRCm39) |
I634T |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,490,467 (GRCm39) |
S492T |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,136,800 (GRCm39) |
V511E |
probably damaging |
Het |
| Slc7a1 |
A |
G |
5: 148,277,402 (GRCm39) |
I371T |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,788,366 (GRCm39) |
|
probably benign |
Het |
| Sntg2 |
A |
T |
12: 30,276,845 (GRCm39) |
S402R |
probably benign |
Het |
| Stfa3 |
C |
A |
16: 36,272,522 (GRCm39) |
L59F |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,850,629 (GRCm39) |
E756G |
possibly damaging |
Het |
| Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
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 |
|
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'- GGCAGGCCAGACTATACATCTAA -3'
(R):5'- TTTGTATAGTAAAGGGTGAGCGACAGA -3'
Sequencing Primer
(F):5'- AATATTAGCGTGGACCTAGGCCC -3'
(R):5'- CGACAGATGTCAATTGAAGGTTTCG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation