Incidental Mutation 'R4889:Plcz1'
| ID |
377194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcz1
|
| Ensembl Gene |
ENSMUSG00000030230 |
| Gene Name |
phospholipase C, zeta 1 |
| Synonyms |
1700041H07Rik |
| MMRRC Submission |
042494-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139953474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 381
(K381R)
|
| 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: K381R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: K381R
| 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
|
| Meta Mutation Damage Score |
0.1018 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
G |
C |
10: 67,384,135 (GRCm39) |
R157G |
probably benign |
Het |
| Akap12 |
C |
A |
10: 4,306,535 (GRCm39) |
A1115E |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,711,787 (GRCm39) |
M196V |
probably null |
Het |
| Appl2 |
G |
A |
10: 83,476,922 (GRCm39) |
T34I |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,885,279 (GRCm39) |
S472G |
probably benign |
Het |
| Asmt |
G |
T |
X: 169,110,764 (GRCm39) |
R250L |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,767,070 (GRCm39) |
I870N |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,871,700 (GRCm39) |
Q667R |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,771,845 (GRCm39) |
D555G |
probably damaging |
Het |
| Cop1 |
A |
T |
1: 159,112,159 (GRCm39) |
R284S |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,858,893 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ctsm |
A |
G |
13: 61,686,215 (GRCm39) |
F106S |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,356,895 (GRCm39) |
L118Q |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,235,938 (GRCm39) |
C355F |
probably benign |
Het |
| Dock1 |
C |
A |
7: 134,346,705 (GRCm39) |
N212K |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,525,148 (GRCm39) |
L18Q |
probably null |
Het |
| Flvcr1 |
A |
G |
1: 190,757,764 (GRCm39) |
L176P |
probably damaging |
Het |
| Gm16505 |
A |
T |
13: 3,411,125 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6457 |
A |
T |
18: 14,703,501 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
A |
G |
10: 88,269,775 (GRCm39) |
N826S |
probably benign |
Het |
| Hdc |
T |
G |
2: 126,436,053 (GRCm39) |
N606T |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,127 (GRCm39) |
D113G |
probably benign |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
T |
6: 39,396,939 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,723,238 (GRCm39) |
V720A |
probably damaging |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,447 (GRCm39) |
|
probably null |
Het |
| Npat |
T |
C |
9: 53,473,507 (GRCm39) |
I433T |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,991 (GRCm39) |
I237F |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,092,057 (GRCm39) |
Y268C |
probably damaging |
Het |
| Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
| Pde6c |
T |
A |
19: 38,121,599 (GRCm39) |
M69K |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,423,823 (GRCm39) |
T18A |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,228,252 (GRCm39) |
F1095V |
probably damaging |
Het |
| Sfxn3 |
T |
C |
19: 45,038,254 (GRCm39) |
F78S |
probably damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,420 (GRCm39) |
Y390F |
probably benign |
Het |
| Slc25a31 |
A |
G |
3: 40,675,975 (GRCm39) |
I174V |
probably benign |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Slco1b2 |
T |
G |
6: 141,602,469 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,431,326 (GRCm39) |
D964Y |
possibly damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,779,458 (GRCm39) |
S338R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,137,719 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Syt16 |
A |
G |
12: 74,176,269 (GRCm39) |
E46G |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,758 (GRCm39) |
I90K |
probably damaging |
Het |
| Tlx1 |
G |
T |
19: 45,139,418 (GRCm39) |
D22Y |
probably damaging |
Het |
| Vamp8 |
G |
A |
6: 72,362,522 (GRCm39) |
L93F |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,892,409 (GRCm39) |
S347P |
possibly damaging |
Het |
| Zfp974 |
A |
G |
7: 27,610,244 (GRCm39) |
Y494H |
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 |
|
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'- ACCCCTTAGCGATTAATAGAACTG -3'
(R):5'- ACCTAAGATCCTTGGAGGCC -3'
Sequencing Primer
(F):5'- AGTTTTCGAGCTCGAGAC -3'
(R):5'- CCTTAAGAAACTGAAGTGATCTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation