Incidental Mutation 'R5558:Plcz1'
| ID |
436400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcz1
|
| Ensembl Gene |
ENSMUSG00000030230 |
| Gene Name |
phospholipase C, zeta 1 |
| Synonyms |
1700041H07Rik |
| MMRRC Submission |
043115-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5558 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139985481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 20
(D20V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000043797]
[ENSMUST00000129986]
[ENSMUST00000137148]
[ENSMUST00000149931]
|
| AlphaFold |
Q8K4D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032356
AA Change: D20V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: D20V
| 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: ENSMUST00000043797
|
| SMART Domains |
Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
12 |
278 |
7.3e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129986
AA Change: D20V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137148
AA Change: D20V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149931
AA Change: D20V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204342
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
C |
9: 44,192,705 (GRCm39) |
K177E |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,349,029 (GRCm39) |
T378A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,630,394 (GRCm39) |
V779A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,618,311 (GRCm39) |
Q2786* |
probably null |
Het |
| Arhgef28 |
A |
C |
13: 98,097,968 (GRCm39) |
L882R |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,775 (GRCm39) |
T447A |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,451,863 (GRCm39) |
W222R |
probably damaging |
Het |
| Chsy3 |
T |
G |
18: 59,309,469 (GRCm39) |
S241A |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,541,749 (GRCm39) |
S345P |
possibly damaging |
Het |
| Cyp4a30b |
C |
A |
4: 115,316,063 (GRCm39) |
D291E |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,622,936 (GRCm39) |
Y419C |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,846,047 (GRCm39) |
R359C |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,063,800 (GRCm39) |
G267V |
probably benign |
Het |
| Gars1 |
T |
C |
6: 55,042,592 (GRCm39) |
S442P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,516,764 (GRCm39) |
R578Q |
probably null |
Het |
| H4c4 |
C |
A |
13: 23,765,779 (GRCm39) |
N65K |
possibly damaging |
Het |
| Ifitm6 |
T |
C |
7: 140,595,985 (GRCm39) |
I103V |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,187,731 (GRCm39) |
I241N |
possibly damaging |
Het |
| Iqce |
A |
G |
5: 140,657,560 (GRCm39) |
|
probably null |
Het |
| Khdc4 |
A |
C |
3: 88,600,403 (GRCm39) |
H164P |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,928,949 (GRCm39) |
Q1192K |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,662,093 (GRCm39) |
N298D |
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,283,796 (GRCm39) |
S246T |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,444,355 (GRCm39) |
G330S |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,889,900 (GRCm39) |
R164C |
probably benign |
Het |
| Myo19 |
C |
G |
11: 84,801,274 (GRCm39) |
P940R |
probably damaging |
Het |
| Or10j7 |
T |
C |
1: 173,011,585 (GRCm39) |
R139G |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,751 (GRCm39) |
F169L |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,338,603 (GRCm39) |
D920G |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,801,815 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
T |
C |
4: 132,105,766 (GRCm39) |
E137G |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 84,411,351 (GRCm39) |
V239M |
probably damaging |
Het |
| Prkca |
A |
T |
11: 107,872,473 (GRCm39) |
I429N |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,176,294 (GRCm39) |
Y251N |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,280,271 (GRCm39) |
F31S |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,642,003 (GRCm39) |
E932V |
probably damaging |
Het |
| Rilp |
A |
G |
11: 75,402,251 (GRCm39) |
Y250C |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,616,025 (GRCm39) |
I474T |
probably benign |
Het |
| Slc14a2 |
T |
A |
18: 78,202,381 (GRCm39) |
D583V |
possibly damaging |
Het |
| Slc30a4 |
A |
G |
2: 122,528,903 (GRCm39) |
I324T |
probably damaging |
Het |
| Slc6a5 |
G |
A |
7: 49,577,321 (GRCm39) |
V326I |
probably benign |
Het |
| Slco1c1 |
C |
T |
6: 141,513,222 (GRCm39) |
T617I |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,484,495 (GRCm39) |
S442P |
possibly damaging |
Het |
| Sys1 |
G |
T |
2: 164,306,429 (GRCm39) |
A128S |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmed5 |
A |
G |
5: 108,272,462 (GRCm39) |
I212T |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,432,819 (GRCm39) |
M1V |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,968,492 (GRCm39) |
H452R |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,937 (GRCm39) |
V1133A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,395 (GRCm39) |
I30537F |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,024 (GRCm39) |
V3271A |
possibly damaging |
Het |
| Utp20 |
C |
G |
10: 88,587,329 (GRCm39) |
G2489R |
probably damaging |
Het |
| Vmn1r70 |
A |
T |
7: 10,368,402 (GRCm39) |
S278C |
probably benign |
Het |
| Wdpcp |
G |
A |
11: 21,661,732 (GRCm39) |
A335T |
probably benign |
Het |
| Zc3h18 |
G |
T |
8: 123,113,659 (GRCm39) |
R217L |
probably damaging |
Het |
| Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,521,161 (GRCm39) |
T210I |
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 |
|
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 |
|
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'- ACGTTCTTAAAGGAGATGGGC -3'
(R):5'- CTTTCCTATGGCTGAAAAGCTG -3'
Sequencing Primer
(F):5'- AGGTTCCTTGGAACTAGTCACAG -3'
(R):5'- TGGCTGAAAAGCTGTTATTTTATTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation