Incidental Mutation 'IGL03404:Zp1'
ID421548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zp1
Ensembl Gene ENSMUSG00000024734
Gene Namezona pellucida glycoprotein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL03404
Quality Score
Status
Chromosome19
Chromosomal Location10914287-10920632 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 10914461 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025641] [ENSMUST00000168708] [ENSMUST00000179297]
Predicted Effect probably benign
Transcript: ENSMUST00000025641
SMART Domains Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 184 199 N/A INTRINSIC
PD 226 269 2.33e-11 SMART
ZP 271 542 1.55e-102 SMART
low complexity region 580 589 N/A INTRINSIC
transmembrane domain 591 613 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168708
SMART Domains Protein: ENSMUSP00000128543
Gene: ENSMUSG00000024734

DomainStartEndE-ValueType
Pfam:Zona_pellucida 3 61 5.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179297
SMART Domains Protein: ENSMUSP00000136858
Gene: ENSMUSG00000024735

DomainStartEndE-ValueType
Ubox 2 68 2.43e-25 SMART
Pfam:Prp19 95 153 1.3e-26 PFAM
WD40 225 269 4.62e-1 SMART
WD40 272 311 6.32e-11 SMART
WD40 314 353 1.31e-3 SMART
WD40 356 397 2.65e-4 SMART
WD40 400 439 7.79e-11 SMART
WD40 442 482 5.92e1 SMART
WD40 483 522 4.48e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]
PHENOTYPE: Female homozygous mutants produce oocytes with abnormal zona pellucida. Fecunditiy is significantly reduced, probably due to precocious hatching. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8 T G 17: 32,312,276 probably benign Het
Ap3d1 A G 10: 80,730,037 S99P probably damaging Het
Arhgef1 T A 7: 24,916,843 M304K probably benign Het
Arpc5l T C 2: 39,013,883 L128P probably damaging Het
Chl1 A T 6: 103,693,091 I497F probably damaging Het
Dnah3 C T 7: 119,938,977 G616E probably damaging Het
Filip1 T C 9: 79,818,559 E926G probably damaging Het
Fras1 A T 5: 96,728,581 H2391L probably damaging Het
Fry A T 5: 150,326,168 D148V probably damaging Het
Glg1 A T 8: 111,159,902 M1086K probably damaging Het
Gm12185 T A 11: 48,908,037 Y543F probably damaging Het
Gtf3a T C 5: 146,950,639 probably null Het
Hydin A T 8: 110,569,777 Y3646F probably benign Het
Itpr3 A G 17: 27,091,518 D425G probably damaging Het
Lipo3 A C 19: 33,583,040 probably benign Het
Ltbp1 A C 17: 75,225,306 K443T probably damaging Het
Mylk3 A G 8: 85,342,681 I497T probably damaging Het
Nlrp5 A G 7: 23,430,034 D842G probably benign Het
Olfr1087 A G 2: 86,690,028 probably benign Het
Olfr218 T C 1: 173,204,199 V281A probably benign Het
Olfr429 A G 1: 174,089,898 N286S probably damaging Het
Olfr605 A T 7: 103,442,988 V45E possibly damaging Het
Pkd1 A T 17: 24,564,406 I120L probably damaging Het
Ptprc T C 1: 138,093,001 N401S probably damaging Het
Rptn A G 3: 93,398,129 H923R possibly damaging Het
Rrp8 T C 7: 105,734,938 K119R probably benign Het
Setd7 A T 3: 51,532,986 Y211* probably null Het
Sfxn5 G A 6: 85,299,536 probably benign Het
Sun5 T C 2: 153,871,004 probably benign Het
Tnks A T 8: 34,940,704 V290D probably damaging Het
Trrap C T 5: 144,833,186 P2740L probably benign Het
Ttc23 G T 7: 67,678,897 L195F probably damaging Het
Tubb1 G T 2: 174,457,448 G308C probably damaging Het
Vmn1r217 A T 13: 23,114,640 F31I probably benign Het
Other mutations in Zp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Zp1 APN 19 10918777 missense probably damaging 1.00
IGL01504:Zp1 APN 19 10919011 missense probably damaging 0.99
IGL02260:Zp1 APN 19 10916714 unclassified probably benign
IGL02465:Zp1 APN 19 10920487 missense probably benign 0.09
IGL02634:Zp1 APN 19 10919507 unclassified probably benign
IGL02714:Zp1 APN 19 10918612 missense probably damaging 1.00
IGL03234:Zp1 APN 19 10914823 splice site probably benign
R0504:Zp1 UTSW 19 10916207 missense probably damaging 0.98
R0554:Zp1 UTSW 19 10920562 missense probably benign 0.29
R1028:Zp1 UTSW 19 10918911 missense probably benign 0.01
R1279:Zp1 UTSW 19 10918577 missense probably damaging 1.00
R1460:Zp1 UTSW 19 10918878 missense probably benign
R3425:Zp1 UTSW 19 10918592 missense probably benign 0.00
R3832:Zp1 UTSW 19 10916524 missense probably damaging 1.00
R4420:Zp1 UTSW 19 10914760 splice site probably null
R4669:Zp1 UTSW 19 10918905 missense probably benign 0.31
R4849:Zp1 UTSW 19 10918834 missense possibly damaging 0.90
R5134:Zp1 UTSW 19 10920562 missense probably benign 0.29
R5170:Zp1 UTSW 19 10920554 missense possibly damaging 0.56
R5510:Zp1 UTSW 19 10919405 missense probably damaging 1.00
R6284:Zp1 UTSW 19 10916503 missense probably damaging 1.00
R6307:Zp1 UTSW 19 10916720 missense probably null 0.45
R6378:Zp1 UTSW 19 10914853 missense probably benign 0.15
R6608:Zp1 UTSW 19 10918980 missense possibly damaging 0.93
R6697:Zp1 UTSW 19 10914835 missense probably benign 0.05
R6862:Zp1 UTSW 19 10916513 missense possibly damaging 0.84
R7054:Zp1 UTSW 19 10918740 missense probably damaging 0.98
R7253:Zp1 UTSW 19 10916569 missense probably damaging 0.99
R7483:Zp1 UTSW 19 10917916 missense possibly damaging 0.72
R7591:Zp1 UTSW 19 10919471 missense probably damaging 1.00
Z1176:Zp1 UTSW 19 10917914 missense probably damaging 1.00
Z1177:Zp1 UTSW 19 10918604 missense probably damaging 1.00
Posted On2016-08-02