Incidental Mutation 'R8302:Plcz1'
| ID |
646448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcz1
|
| Ensembl Gene |
ENSMUSG00000030230 |
| Gene Name |
phospholipase C, zeta 1 |
| Synonyms |
1700041H07Rik |
| MMRRC Submission |
067790-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139974163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 93
(K93I)
|
| 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: K93I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: K93I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
T |
11: 109,853,406 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
C |
10: 69,840,810 (GRCm39) |
S1937P |
possibly damaging |
Het |
| Atg5 |
T |
A |
10: 44,162,115 (GRCm39) |
D10E |
probably benign |
Het |
| Car12 |
A |
G |
9: 66,654,879 (GRCm39) |
D103G |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,276,316 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,796,066 (GRCm39) |
V104A |
probably damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,078 (GRCm39) |
H353L |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,021 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Exph5 |
A |
G |
9: 53,287,776 (GRCm39) |
E1619G |
possibly damaging |
Het |
| Frmd5 |
T |
A |
2: 121,378,060 (GRCm39) |
T435S |
unknown |
Het |
| Gm3371 |
T |
C |
14: 44,641,181 (GRCm39) |
R128G |
|
Het |
| Gper1 |
A |
G |
5: 139,412,030 (GRCm39) |
D125G |
probably benign |
Het |
| Il17re |
C |
A |
6: 113,443,280 (GRCm39) |
S340* |
probably null |
Het |
| Kazald1 |
T |
A |
19: 45,065,278 (GRCm39) |
L53Q |
probably damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,388 (GRCm39) |
H1731L |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,765,030 (GRCm39) |
S755P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,032,772 (GRCm39) |
N526S |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,334,064 (GRCm39) |
I343V |
probably damaging |
Het |
| Nabp1 |
A |
T |
1: 51,511,498 (GRCm39) |
F140L |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,224,681 (GRCm39) |
S860P |
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,698 (GRCm39) |
Y195N |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,056 (GRCm39) |
L157P |
probably damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,425,116 (GRCm39) |
I100L |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,586,987 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,430 (GRCm39) |
T248S |
possibly damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,933 (GRCm39) |
Y749C |
probably damaging |
Het |
| Plpbp |
T |
C |
8: 27,539,216 (GRCm39) |
S109P |
|
Het |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Psma6 |
A |
T |
12: 55,456,966 (GRCm39) |
Y103F |
probably benign |
Het |
| Ptpn3 |
A |
G |
4: 57,218,514 (GRCm39) |
F650L |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,164,094 (GRCm38) |
F562S |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rgs17 |
C |
T |
10: 5,812,525 (GRCm39) |
C58Y |
possibly damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,334 (GRCm39) |
V228E |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,105,122 (GRCm39) |
D667G |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,032,209 (GRCm39) |
V620D |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,249,686 (GRCm39) |
I153T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,847,162 (GRCm39) |
V125A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,368,058 (GRCm39) |
F216L |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,533,024 (GRCm39) |
I208N |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,545,496 (GRCm39) |
M288T |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trmt2a |
T |
C |
16: 18,067,813 (GRCm39) |
V162A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,078,110 (GRCm39) |
I1167T |
probably benign |
Het |
| Wdr76 |
C |
A |
2: 121,341,044 (GRCm39) |
H30N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,407,923 (GRCm39) |
S3624P |
unknown |
Het |
| Zc3h7a |
T |
C |
16: 10,955,249 (GRCm39) |
K942E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,893 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,091 (GRCm39) |
H59R |
probably benign |
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 |
|
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 |
|
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'- GCTCTTTTCAAATGAATACACAGCC -3'
(R):5'- CTTCAGGATGGATGCAGCATG -3'
Sequencing Primer
(F):5'- TACACAGCCAGGTTTTTAAGAGG -3'
(R):5'- ATGAATACTGTGACGCTTCCTTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation