Incidental Mutation 'IGL01360:Zpld1'
ID 75726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zpld1
Ensembl Gene ENSMUSG00000064310
Gene Name zona pellucida like domain containing 1
Synonyms 9430016A21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01360
Quality Score
Status
Chromosome 16
Chromosomal Location 55045538-55118349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55046748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 407 (N407T)
Ref Sequence ENSEMBL: ENSMUSP00000119774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036412] [ENSMUST00000143914]
AlphaFold Q8BGZ8
Predicted Effect probably benign
Transcript: ENSMUST00000036412
AA Change: N407T

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000049012
Gene: ENSMUSG00000064310
AA Change: N407T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
ZP 43 316 2.24e-6 SMART
transmembrane domain 374 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143914
AA Change: N407T

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119774
Gene: ENSMUSG00000064310
AA Change: N407T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
ZP 43 316 2.24e-6 SMART
transmembrane domain 374 396 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,325,648 (GRCm39) I1517L possibly damaging Het
Akap12 A T 10: 4,307,537 (GRCm39) D1449V probably benign Het
Alg6 T A 4: 99,630,643 (GRCm39) Y161N probably benign Het
Arhgap45 A T 10: 79,864,482 (GRCm39) probably benign Het
Arhgap5 A T 12: 52,565,023 (GRCm39) I665F probably damaging Het
Bbs4 A G 9: 59,247,131 (GRCm39) V123A possibly damaging Het
Carm1 C T 9: 21,498,598 (GRCm39) T480I probably benign Het
Catsperb G A 12: 101,591,513 (GRCm39) V1032M probably damaging Het
Cdc42bpb A C 12: 111,308,509 (GRCm39) I101S probably damaging Het
Copa C A 1: 171,915,155 (GRCm39) probably null Het
Cramp1 T C 17: 25,216,547 (GRCm39) I189V probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Egf A T 3: 129,533,669 (GRCm39) F57Y probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Gm14178 A G 11: 99,638,269 (GRCm39) S37P unknown Het
Gpbp1 A T 13: 111,563,075 (GRCm39) probably benign Het
Herc1 T C 9: 66,390,981 (GRCm39) S3980P probably benign Het
Itga6 T C 2: 71,617,670 (GRCm39) probably null Het
Itgb4 T C 11: 115,881,766 (GRCm39) S772P probably damaging Het
Kcng4 C A 8: 120,352,416 (GRCm39) G498V probably benign Het
Lrp1 T G 10: 127,381,689 (GRCm39) D3795A possibly damaging Het
Lrrk2 T A 15: 91,584,772 (GRCm39) probably null Het
Mettl25 A T 10: 105,659,058 (GRCm39) H408Q probably damaging Het
Mki67 T C 7: 135,307,505 (GRCm39) E457G probably damaging Het
Mpl G A 4: 118,312,858 (GRCm39) T158I possibly damaging Het
Mtg2 C T 2: 179,725,870 (GRCm39) T160I probably damaging Het
Mtif2 A G 11: 29,480,110 (GRCm39) I59V probably benign Het
Ncapg C A 5: 45,831,727 (GRCm39) S191* probably null Het
Nup214 T C 2: 31,928,190 (GRCm39) probably benign Het
Or9m1 T C 2: 87,733,871 (GRCm39) T50A probably benign Het
Phf3 T A 1: 30,847,809 (GRCm39) T1245S probably damaging Het
Piezo2 T C 18: 63,250,770 (GRCm39) D443G probably damaging Het
Pramel19 A T 4: 101,797,665 (GRCm39) D21V possibly damaging Het
Ptchd4 C A 17: 42,627,936 (GRCm39) H132Q probably benign Het
Pum1 T C 4: 130,455,481 (GRCm39) probably benign Het
Slc30a7 A T 3: 115,783,765 (GRCm39) V136E probably damaging Het
Slc5a10 A G 11: 61,605,962 (GRCm39) V116A probably damaging Het
Sos2 A T 12: 69,637,574 (GRCm39) S1046T probably benign Het
Svep1 A G 4: 58,116,554 (GRCm39) S899P possibly damaging Het
Tfr2 G A 5: 137,569,953 (GRCm39) V120I probably benign Het
Tnfrsf18 A T 4: 156,112,493 (GRCm39) R117* probably null Het
Trmt9b A G 8: 36,979,713 (GRCm39) I439V probably benign Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Vmn2r112 T C 17: 22,837,603 (GRCm39) M688T probably benign Het
Vmn2r93 T A 17: 18,525,510 (GRCm39) D389E possibly damaging Het
Zranb3 C T 1: 127,887,622 (GRCm39) W935* probably null Het
Zyx G A 6: 42,327,378 (GRCm39) R59Q probably damaging Het
Other mutations in Zpld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Zpld1 APN 16 55,072,133 (GRCm39) missense probably damaging 0.99
IGL02089:Zpld1 APN 16 55,071,974 (GRCm39) missense probably benign 0.00
IGL03350:Zpld1 APN 16 55,061,692 (GRCm39) splice site probably benign
whirl UTSW 16 55,053,993 (GRCm39) missense probably damaging 1.00
R0324:Zpld1 UTSW 16 55,071,978 (GRCm39) missense probably damaging 1.00
R1296:Zpld1 UTSW 16 55,068,697 (GRCm39) missense probably damaging 0.99
R1500:Zpld1 UTSW 16 55,053,935 (GRCm39) missense probably damaging 0.97
R3712:Zpld1 UTSW 16 55,046,799 (GRCm39) nonsense probably null
R4096:Zpld1 UTSW 16 55,053,881 (GRCm39) missense probably damaging 1.00
R4835:Zpld1 UTSW 16 55,068,618 (GRCm39) missense probably damaging 0.99
R5153:Zpld1 UTSW 16 55,067,007 (GRCm39) missense probably damaging 1.00
R5412:Zpld1 UTSW 16 55,052,646 (GRCm39) missense possibly damaging 0.72
R5527:Zpld1 UTSW 16 55,046,725 (GRCm39) missense probably benign 0.06
R5537:Zpld1 UTSW 16 55,054,003 (GRCm39) missense possibly damaging 0.84
R6167:Zpld1 UTSW 16 55,053,962 (GRCm39) missense probably damaging 1.00
R6178:Zpld1 UTSW 16 55,053,993 (GRCm39) missense probably damaging 1.00
R6788:Zpld1 UTSW 16 55,052,603 (GRCm39) missense possibly damaging 0.93
R6877:Zpld1 UTSW 16 55,072,034 (GRCm39) missense probably damaging 0.99
R7165:Zpld1 UTSW 16 55,052,594 (GRCm39) missense probably benign 0.03
R7382:Zpld1 UTSW 16 55,067,046 (GRCm39) critical splice acceptor site probably null
R7423:Zpld1 UTSW 16 55,054,027 (GRCm39) missense probably damaging 1.00
R8217:Zpld1 UTSW 16 55,047,295 (GRCm39) critical splice donor site probably null
R8377:Zpld1 UTSW 16 55,067,017 (GRCm39) missense probably benign 0.04
R9076:Zpld1 UTSW 16 55,061,764 (GRCm39) missense probably benign 0.32
R9564:Zpld1 UTSW 16 55,061,701 (GRCm39) nonsense probably null
Z1176:Zpld1 UTSW 16 55,072,128 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07