Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Zpbp'

285621

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zpbp

Ensembl Gene

ENSMUSG00000020193

Gene Name

zona pellucida binding protein

Synonyms

Sp38, 4930486K01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

11229626-11412408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11365248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 200 (E200K)

Ref Sequence

ENSEMBL: ENSMUSP00000020413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020413]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020413
AA Change: E200K

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020413
Gene: ENSMUSG00000020193
AA Change: E200K

Domain	Start	End	E-Value	Type
low complexity region	63	101	N/A	INTRINSIC
Pfam:Sp38	144	408	4.3e-128	PFAM

Meta Mutation Damage Score

0.0833

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Male mice homozygous for a null mutation display infertility and asthenoglobozoospermia. Heterozygous males display an increase in the percentage of abnormal sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het

Other mutations in Zpbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Zpbp	APN	11	11,354,052 (GRCm39)	missense	probably benign	0.42
IGL02725:Zpbp	APN	11	11,412,358 (GRCm39)	unclassified	probably benign
R1673:Zpbp	UTSW	11	11,302,696 (GRCm39)	missense	probably damaging	0.99
R2270:Zpbp	UTSW	11	11,368,272 (GRCm39)	missense	probably benign	0.05
R5023:Zpbp	UTSW	11	11,365,248 (GRCm39)	missense	probably benign	0.21
R5056:Zpbp	UTSW	11	11,409,734 (GRCm39)	missense	possibly damaging	0.95
R5203:Zpbp	UTSW	11	11,358,451 (GRCm39)	missense	probably damaging	1.00
R5902:Zpbp	UTSW	11	11,365,332 (GRCm39)	missense	probably benign	0.11
R6458:Zpbp	UTSW	11	11,358,538 (GRCm39)	missense	probably damaging	1.00
R6478:Zpbp	UTSW	11	11,412,318 (GRCm39)	unclassified	probably benign
R8475:Zpbp	UTSW	11	11,365,203 (GRCm39)	missense	possibly damaging	0.85
R9470:Zpbp	UTSW	11	11,358,541 (GRCm39)	missense	probably damaging	1.00
X0022:Zpbp	UTSW	11	11,232,649 (GRCm39)	missense	probably damaging	1.00
Z1088:Zpbp	UTSW	11	11,358,568 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16