Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Plcz1'

15338

Institutional Source

Beutler Lab

Gene Symbol

Plcz1

Ensembl Gene

ENSMUSG00000030230

Gene Name

phospholipase C, zeta 1

Synonyms

1700041H07Rik

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

139935399-139987183 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 139966174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000129986] [ENSMUST00000137148] [ENSMUST00000149931]

AlphaFold

Q8K4D7

Predicted Effect

probably benign
Transcript: ENSMUST00000032356

SMART Domains

Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 76.6%
3x: 64.3%
10x: 35.1%
20x: 16.8%

Validation Efficiency

87% (59/68)

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Chrna7	T	G	7: 62,798,354 (GRCm39)	K109N	possibly damaging	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Farp1	A	G	14: 121,492,841 (GRCm39)	H481R	probably benign	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,354,563 (GRCm39)		probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Nat8f5	C	A	6: 85,794,868 (GRCm39)	A31S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Ppp2r2c	A	G	5: 37,084,883 (GRCm39)	I115V	probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trim14	A	G	4: 46,523,627 (GRCm39)	L137P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Usp50	T	C	2: 126,619,895 (GRCm39)	E139G	possibly damaging	Het
Zfp949	A	T	9: 88,449,693 (GRCm39)		probably benign	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	probably 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
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
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

Posted On

2012-12-17