Mutagenetix > Incidental Mutation

Incidental Mutation 'R5581:Plcz1'

438463

Institutional Source

Beutler Lab

Gene Symbol

Plcz1

Ensembl Gene

ENSMUSG00000030230

Gene Name

phospholipase C, zeta 1

Synonyms

1700041H07Rik

MMRRC Submission

043135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139935399-139987183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139968851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 196 (Y196H)

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: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: Y196H

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appbp2	G	C	11: 85,100,921 (GRCm39)	R173G	possibly damaging	Het
Bcl11a	A	G	11: 24,113,932 (GRCm39)	K425R	probably damaging	Het
Casr	A	G	16: 36,315,106 (GRCm39)	M911T	probably benign	Het
Cdon	C	T	9: 35,415,377 (GRCm39)	A1205V	probably benign	Het
Chfr	T	C	5: 110,301,148 (GRCm39)		probably null	Het
Dixdc1	A	G	9: 50,580,780 (GRCm39)	L638P	probably damaging	Het
Filip1	C	T	9: 79,727,042 (GRCm39)	V526M	possibly damaging	Het
Fsip2	T	A	2: 82,828,472 (GRCm39)	D6756E	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Lvrn	A	G	18: 47,023,932 (GRCm39)	T760A	probably benign	Het
Myh7	T	A	14: 55,216,411 (GRCm39)	M1256L	probably benign	Het
Ndufb11b	T	C	15: 81,865,037 (GRCm39)	S93P	probably damaging	Het
Or8g17	T	A	9: 38,929,998 (GRCm39)	I280F	probably damaging	Het
Pdia5	T	C	16: 35,269,812 (GRCm39)	R166G	probably benign	Het
Ptpn12	T	A	5: 21,220,724 (GRCm39)	E135D	probably damaging	Het
Rnh1	T	C	7: 140,743,294 (GRCm39)	D191G	probably benign	Het
Slit1	A	G	19: 41,605,102 (GRCm39)		probably null	Het
Syne2	T	G	12: 75,991,859 (GRCm39)	D1941E	probably benign	Het
Thsd4	C	A	9: 59,879,741 (GRCm39)	A639S	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
R5558:Plcz1	UTSW	6	139,985,481 (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'- GCAGGCCAGACTATACATCTAA -3'
(R):5'- ATGTCAATTGAAGGTTTCGCAAG -3'

Sequencing Primer
(F):5'- AATATTAGCGTGGACCTAGGCCC -3'
(R):5'- TCGCAAGATACATGTTTTCATCAG -3'

Posted On

2016-10-26