Incidental Mutation 'IGL00906:Plac1'
ID 29571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plac1
Ensembl Gene ENSMUSG00000061082
Gene Name placental specific protein 1
Synonyms Oosp2l, Epcs26, DXWsu72e
Accession Numbers
Essential gene? Not available question?
Stock # IGL00906
Quality Score
Status
Chromosome X
Chromosomal Location 52158872-52328988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 52159593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 39 (V39G)
Ref Sequence ENSEMBL: ENSMUSP00000133862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074861] [ENSMUST00000114843] [ENSMUST00000174390]
AlphaFold Q9JI83
Predicted Effect probably damaging
Transcript: ENSMUST00000074861
AA Change: V39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074404
Gene: ENSMUSG00000061082
AA Change: V39G

DomainStartEndE-ValueType
Pfam:Zona_pellucida 9 171 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114843
AA Change: V39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110492
Gene: ENSMUSG00000061082
AA Change: V39G

DomainStartEndE-ValueType
Pfam:Zona_pellucida 9 171 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174390
AA Change: V39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133862
Gene: ENSMUSG00000061082
AA Change: V39G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Zona_pellucida 30 167 1.6e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female and male mice null for this gene display postnatal lethality with placental abnormalities. Female mice heterozygous for this allele display an enlarged placenta with expansion of the junctional zone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,580,338 (GRCm39) E221G probably benign Het
Alb A G 5: 90,619,932 (GRCm39) N453S probably benign Het
Bckdha C T 7: 25,332,767 (GRCm39) V183M probably benign Het
Brpf3 A G 17: 29,055,674 (GRCm39) probably benign Het
Ccdc163 T C 4: 116,567,487 (GRCm39) probably null Het
Ccdc178 A T 18: 22,268,225 (GRCm39) C87* probably null Het
Cfhr4 A T 1: 139,659,312 (GRCm39) V739E probably damaging Het
Clca4a A G 3: 144,660,700 (GRCm39) V708A probably damaging Het
Cyfip2 A G 11: 46,091,512 (GRCm39) V1136A possibly damaging Het
Dnah11 A C 12: 117,874,937 (GRCm39) L3976R probably damaging Het
Erich1 A G 8: 14,083,770 (GRCm39) probably benign Het
Fam228a A T 12: 4,782,773 (GRCm39) Y107N possibly damaging Het
Iars2 A T 1: 185,028,600 (GRCm39) probably benign Het
Ifi204 A G 1: 173,587,197 (GRCm39) probably benign Het
Ifih1 A T 2: 62,476,168 (GRCm39) I36N probably benign Het
Jak1 C T 4: 101,011,826 (GRCm39) G1092D probably damaging Het
Kir3dl2 G A X: 135,357,097 (GRCm39) P122S probably damaging Het
Nacc2 T C 2: 25,951,678 (GRCm39) T386A probably damaging Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or4k15 A G 14: 50,364,214 (GRCm39) Y60C probably damaging Het
Or51i2 G A 7: 103,689,051 (GRCm39) G16D probably damaging Het
Pcca A C 14: 122,927,545 (GRCm39) D436A probably benign Het
Pcdhb11 A T 18: 37,555,174 (GRCm39) Q168L possibly damaging Het
Pdgfra A G 5: 75,340,834 (GRCm39) I598V probably benign Het
Pla2g6 C T 15: 79,171,947 (GRCm39) V637I probably damaging Het
Pparg A G 6: 115,416,822 (GRCm39) E5G probably damaging Het
Ppp1r9a A G 6: 5,157,023 (GRCm39) D967G possibly damaging Het
Rel T C 11: 23,694,266 (GRCm39) T322A probably benign Het
Sgk3 A G 1: 9,947,470 (GRCm39) T137A probably benign Het
Sgpp2 A G 1: 78,367,184 (GRCm39) R106G probably benign Het
Slc27a5 T A 7: 12,724,984 (GRCm39) M459L probably benign Het
Snx21 T C 2: 164,628,140 (GRCm39) L52P probably damaging Het
Srarp G A 4: 141,160,584 (GRCm39) T83M probably benign Het
Sstr2 A G 11: 113,515,821 (GRCm39) R247G probably benign Het
Tnpo3 G A 6: 29,589,047 (GRCm39) S101L probably damaging Het
Zan A G 5: 137,387,622 (GRCm39) I4863T unknown Het
Other mutations in Plac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03348:Plac1 APN X 52,159,517 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17