Incidental Mutation 'IGL00229:Syna'
ID 2398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syna
Ensembl Gene ENSMUSG00000085957
Gene Name syncytin a
Synonyms syncytin-A, Gm52
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00229
Quality Score
Status
Chromosome 5
Chromosomal Location 134587000-134589025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134588571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 126 (L126P)
Ref Sequence ENSEMBL: ENSMUSP00000116437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000149604]
AlphaFold Q5G5D5
Predicted Effect possibly damaging
Transcript: ENSMUST00000149604
AA Change: L126P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: L126P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:TLV_coat 333 578 1.9e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202523
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of a mouse endogenous retrovirus provirus on chromosome 5 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E11.5 and E14.5 associated with defective placental layrinth formation, impaired placental transport, and increased trophoblast cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,603 (GRCm39) T929A probably damaging Het
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Adamts12 T A 15: 11,311,685 (GRCm39) M1314K probably benign Het
Alg6 T A 4: 99,641,291 (GRCm39) F152I probably damaging Het
Aopep A G 13: 63,347,314 (GRCm39) probably benign Het
Arid5b A G 10: 67,964,805 (GRCm39) S289P probably damaging Het
Axin1 T C 17: 26,413,046 (GRCm39) F780L probably damaging Het
C9 C T 15: 6,512,712 (GRCm39) S278L possibly damaging Het
Calr4 A T 4: 109,101,312 (GRCm39) I65F probably damaging Het
Cdh23 A G 10: 60,359,327 (GRCm39) V260A probably benign Het
Ddx25 T C 9: 35,454,891 (GRCm39) probably benign Het
Dppa4 A G 16: 48,111,446 (GRCm39) T92A possibly damaging Het
Ercc5 T C 1: 44,203,058 (GRCm39) Y232H probably damaging Het
Exoc4 A G 6: 33,895,334 (GRCm39) probably null Het
Fam149a A G 8: 45,804,823 (GRCm39) V253A probably damaging Het
Fam209 C T 2: 172,316,102 (GRCm39) T159I probably damaging Het
Gcfc2 A T 6: 81,912,996 (GRCm39) N265I probably damaging Het
Glud1 T C 14: 34,058,087 (GRCm39) V366A probably benign Het
Hdac10 T C 15: 89,012,645 (GRCm39) T3A probably damaging Het
Ifnar1 T C 16: 91,286,670 (GRCm39) S54P probably damaging Het
Itpr2 T C 6: 146,045,683 (GRCm39) Y2561C probably damaging Het
Klhl30 A G 1: 91,281,879 (GRCm39) E160G possibly damaging Het
Kmt2d A T 15: 98,760,214 (GRCm39) S1015T unknown Het
Lactb2 A G 1: 13,730,598 (GRCm39) M26T probably damaging Het
Lactbl1 A T 4: 136,358,362 (GRCm39) D111V probably damaging Het
Lig4 T C 8: 10,022,775 (GRCm39) Y335C probably damaging Het
Lrrc8e T A 8: 4,285,921 (GRCm39) D715E probably benign Het
Med6 A T 12: 81,626,348 (GRCm39) V142D possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mettl13 A G 1: 162,363,434 (GRCm39) V600A possibly damaging Het
Mpdz A T 4: 81,228,461 (GRCm39) C1314* probably null Het
Nbeal2 A G 9: 110,464,937 (GRCm39) V1009A probably damaging Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Nudt2 T A 4: 41,480,474 (GRCm39) L119Q probably damaging Het
Or5b117 T C 19: 13,431,204 (GRCm39) M226V possibly damaging Het
Osbpl3 C T 6: 50,300,048 (GRCm39) E519K probably damaging Het
Pak6 A T 2: 118,520,326 (GRCm39) T106S possibly damaging Het
Pggt1b T G 18: 46,413,786 (GRCm39) Q34P probably benign Het
Phactr4 T C 4: 132,098,303 (GRCm39) T322A possibly damaging Het
Plekhj1 T C 10: 80,632,436 (GRCm39) probably null Het
Pnpt1 T C 11: 29,104,217 (GRCm39) probably null Het
Pramel32 A G 4: 88,547,290 (GRCm39) I214T probably damaging Het
Prr14l T C 5: 32,988,020 (GRCm39) I492V probably benign Het
Ranbp2 C A 10: 58,313,078 (GRCm39) A1266E probably damaging Het
Riok3 G A 18: 12,270,077 (GRCm39) D140N probably damaging Het
Rsph4a G A 10: 33,790,339 (GRCm39) E643K probably damaging Het
Scara3 T G 14: 66,170,570 (GRCm39) E103A probably benign Het
Sgk3 T C 1: 9,938,609 (GRCm39) V33A probably damaging Het
Slc38a4 A G 15: 96,897,375 (GRCm39) F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 (GRCm39) V372M probably damaging Het
Slc9a2 A G 1: 40,806,897 (GRCm39) Y728C probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Spidr A T 16: 15,713,442 (GRCm39) L847Q probably damaging Het
Sptb A G 12: 76,667,527 (GRCm39) S857P probably benign Het
Syde1 A G 10: 78,421,643 (GRCm39) V636A probably damaging Het
Taar2 A G 10: 23,817,266 (GRCm39) T269A possibly damaging Het
Tapbp C T 17: 34,144,678 (GRCm39) T258I probably damaging Het
Tcf20 T A 15: 82,741,343 (GRCm39) Q36L possibly damaging Het
Tmem131l A T 3: 83,849,807 (GRCm39) M260K probably damaging Het
Tnc T A 4: 63,935,061 (GRCm39) probably benign Het
Ugp2 T A 11: 21,304,345 (GRCm39) E27D probably benign Het
Vps35l T A 7: 118,403,414 (GRCm39) probably benign Het
Wdr27 A T 17: 15,148,572 (GRCm39) C140* probably null Het
Wnt2b T C 3: 104,860,449 (GRCm39) T153A possibly damaging Het
Xirp2 A T 2: 67,343,719 (GRCm39) T1987S probably benign Het
Zfp36l1 C A 12: 80,157,238 (GRCm39) G48C probably damaging Het
Zfp474 A T 18: 52,771,565 (GRCm39) I73F possibly damaging Het
Zfp790 T A 7: 29,527,988 (GRCm39) F224L probably benign Het
Other mutations in Syna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Syna APN 5 134,588,334 (GRCm39) missense probably damaging 0.99
IGL03183:Syna APN 5 134,587,144 (GRCm39) missense probably benign 0.03
R0051:Syna UTSW 5 134,588,397 (GRCm39) missense probably damaging 1.00
R0051:Syna UTSW 5 134,588,397 (GRCm39) missense probably damaging 0.99
R0137:Syna UTSW 5 134,588,314 (GRCm39) missense possibly damaging 0.93
R0920:Syna UTSW 5 134,587,956 (GRCm39) missense probably benign 0.12
R1525:Syna UTSW 5 134,588,112 (GRCm39) missense probably benign
R1801:Syna UTSW 5 134,588,943 (GRCm39) missense probably benign 0.02
R1813:Syna UTSW 5 134,588,006 (GRCm39) missense probably benign 0.06
R1866:Syna UTSW 5 134,588,769 (GRCm39) missense probably damaging 1.00
R1887:Syna UTSW 5 134,588,106 (GRCm39) missense probably benign
R1896:Syna UTSW 5 134,588,006 (GRCm39) missense probably benign 0.06
R2139:Syna UTSW 5 134,588,106 (GRCm39) nonsense probably null
R3896:Syna UTSW 5 134,587,165 (GRCm39) nonsense probably null
R4674:Syna UTSW 5 134,587,209 (GRCm39) missense probably damaging 0.99
R4730:Syna UTSW 5 134,587,440 (GRCm39) missense probably damaging 1.00
R5124:Syna UTSW 5 134,588,424 (GRCm39) missense possibly damaging 0.65
R5482:Syna UTSW 5 134,588,028 (GRCm39) missense possibly damaging 0.94
R6130:Syna UTSW 5 134,587,122 (GRCm39) missense possibly damaging 0.72
R6196:Syna UTSW 5 134,588,466 (GRCm39) missense probably benign 0.14
R6243:Syna UTSW 5 134,588,968 (GRCm39) start gained probably benign
R6945:Syna UTSW 5 134,587,815 (GRCm39) missense probably damaging 0.97
R7999:Syna UTSW 5 134,588,046 (GRCm39) missense probably benign
R8320:Syna UTSW 5 134,588,574 (GRCm39) missense possibly damaging 0.86
R8783:Syna UTSW 5 134,588,723 (GRCm39) missense probably benign 0.01
R8784:Syna UTSW 5 134,588,723 (GRCm39) missense probably benign 0.01
R8785:Syna UTSW 5 134,588,723 (GRCm39) missense probably benign 0.01
R8786:Syna UTSW 5 134,588,723 (GRCm39) missense probably benign 0.01
R8787:Syna UTSW 5 134,588,723 (GRCm39) missense probably benign 0.01
X0022:Syna UTSW 5 134,588,427 (GRCm39) missense probably benign 0.01
Z1088:Syna UTSW 5 134,587,383 (GRCm39) missense probably benign 0.01
Posted On 2011-12-09