Incidental Mutation 'IGL01716:Zpbp'
ID 104934
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: 0.082) question?
Stock # IGL01716
Quality Score
Status
Chromosome 11
Chromosomal Location 11229626-11412408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11354052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 295 (S295T)
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: S295T

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020413
Gene: ENSMUSG00000020193
AA Change: S295T

DomainStartEndE-ValueType
low complexity region 63 101 N/A INTRINSIC
Pfam:Sp38 144 408 4.3e-128 PFAM
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Apba2 T C 7: 64,395,574 (GRCm39) probably benign Het
Asap2 A G 12: 21,304,307 (GRCm39) D741G possibly damaging Het
Cfap65 T C 1: 74,966,353 (GRCm39) T325A probably benign Het
Cyp2b23 A T 7: 26,378,915 (GRCm39) V183E probably damaging Het
Cyp4f14 T A 17: 33,124,470 (GRCm39) probably benign Het
Dip2b A G 15: 100,107,517 (GRCm39) T1176A probably benign Het
Dnah1 A G 14: 30,985,335 (GRCm39) I3852T probably benign Het
Exoc6 T A 19: 37,671,412 (GRCm39) S801T probably damaging Het
Fancd2os T C 6: 113,574,615 (GRCm39) I130M probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Kif24 T C 4: 41,393,454 (GRCm39) T1140A probably benign Het
Limk2 C T 11: 3,308,990 (GRCm39) probably null Het
Mag C T 7: 30,599,812 (GRCm39) V576I probably benign Het
Mei4 C T 9: 81,772,235 (GRCm39) A16V probably damaging Het
Ncoa7 A G 10: 30,538,330 (GRCm39) I685T probably damaging Het
Nfxl1 A T 5: 72,698,277 (GRCm39) V256E probably damaging Het
Or1a1 C T 11: 74,087,207 (GRCm39) R293W probably benign Het
Or1j20 T A 2: 36,759,679 (GRCm39) F34I probably benign Het
Or9g4b A T 2: 85,616,487 (GRCm39) I211F probably damaging Het
Pcdhb2 T C 18: 37,429,791 (GRCm39) V588A probably damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Pcdhb9 T A 18: 37,536,228 (GRCm39) S741T probably damaging Het
Plekha4 C A 7: 45,183,767 (GRCm39) S66R probably damaging Het
Prex2 A G 1: 11,336,278 (GRCm39) N1492S probably benign Het
Rbfox3 T C 11: 118,404,115 (GRCm39) H28R possibly damaging Het
Reep2 C T 18: 34,979,302 (GRCm39) T209I probably benign Het
Rptn A G 3: 93,304,017 (GRCm39) H450R possibly damaging Het
Spock3 A G 8: 63,808,384 (GRCm39) D427G unknown Het
Tnfrsf1b C T 4: 144,942,493 (GRCm39) C430Y probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Tubgcp3 T C 8: 12,691,094 (GRCm39) probably benign Het
Upp2 A C 2: 58,680,058 (GRCm39) T295P probably damaging Het
Xpo7 A G 14: 70,922,995 (GRCm39) V528A probably damaging Het
Zc3h7a A G 16: 10,963,580 (GRCm39) C714R probably damaging Het
Zfp764l1 A G 7: 126,991,208 (GRCm39) S260P possibly damaging Het
Other mutations in Zpbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Zpbp APN 11 11,365,248 (GRCm39) missense probably benign 0.21
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 2014-01-21