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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00229
Quality Score
Status
Chromosome 5
Chromosomal Location 134558146-134560171 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134559717 bp (GRCm38)
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
2010111I01Rik A G 13: 63,199,500 probably benign Het
9030624J02Rik T A 7: 118,804,191 probably benign Het
Abca4 A G 3: 122,170,954 T929A probably damaging Het
Adam6b G A 12: 113,491,393 R610H probably damaging Het
Adamts12 T A 15: 11,311,599 M1314K probably benign Het
Alg6 T A 4: 99,753,054 F152I probably damaging Het
Arid5b A G 10: 68,128,975 S289P probably damaging Het
Axin1 T C 17: 26,194,072 F780L probably damaging Het
C87499 A G 4: 88,629,053 I214T probably damaging Het
C9 C T 15: 6,483,231 S278L possibly damaging Het
Calr4 A T 4: 109,244,115 I65F probably damaging Het
Cdh23 A G 10: 60,523,548 V260A probably benign Het
Ddx25 T C 9: 35,543,595 probably benign Het
Dppa4 A G 16: 48,291,083 T92A possibly damaging Het
Ercc5 T C 1: 44,163,898 Y232H probably damaging Het
Exoc4 A G 6: 33,918,399 probably null Het
Fam149a A G 8: 45,351,786 V253A probably damaging Het
Fam209 C T 2: 172,474,182 T159I probably damaging Het
Gcfc2 A T 6: 81,936,015 N265I probably damaging Het
Glud1 T C 14: 34,336,130 V366A probably benign Het
Hdac10 T C 15: 89,128,442 T3A probably damaging Het
Ifnar1 T C 16: 91,489,782 S54P probably damaging Het
Itpr2 T C 6: 146,144,185 Y2561C probably damaging Het
Klhl30 A G 1: 91,354,157 E160G possibly damaging Het
Kmt2d A T 15: 98,862,333 S1015T unknown Het
Lactb2 A G 1: 13,660,374 M26T probably damaging Het
Lactbl1 A T 4: 136,631,051 D111V probably damaging Het
Lig4 T C 8: 9,972,775 Y335C probably damaging Het
Lrrc8e T A 8: 4,235,921 D715E probably benign Het
Med6 A T 12: 81,579,574 V142D possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mettl13 A G 1: 162,535,865 V600A possibly damaging Het
Mpdz A T 4: 81,310,224 C1314* probably null Het
Nbeal2 A G 9: 110,635,869 V1009A probably damaging Het
Nmur2 A G 11: 56,040,777 L36P probably damaging Het
Nudt2 T A 4: 41,480,474 L119Q probably damaging Het
Olfr1472 T C 19: 13,453,840 M226V possibly damaging Het
Osbpl3 C T 6: 50,323,068 E519K probably damaging Het
Pak6 A T 2: 118,689,845 T106S possibly damaging Het
Pggt1b T G 18: 46,280,719 Q34P probably benign Het
Phactr4 T C 4: 132,370,992 T322A possibly damaging Het
Plekhj1 T C 10: 80,796,602 probably null Het
Pnpt1 T C 11: 29,154,217 probably null Het
Prr14l T C 5: 32,830,676 I492V probably benign Het
Ranbp2 C A 10: 58,477,256 A1266E probably damaging Het
Riok3 G A 18: 12,137,020 D140N probably damaging Het
Rsph4a G A 10: 33,914,343 E643K probably damaging Het
Scara3 T G 14: 65,933,121 E103A probably benign Het
Sgk3 T C 1: 9,868,384 V33A probably damaging Het
Slc38a4 A G 15: 96,999,494 F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 V372M probably damaging Het
Slc9a2 A G 1: 40,767,737 Y728C probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Spidr A T 16: 15,895,578 L847Q probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Syde1 A G 10: 78,585,809 V636A probably damaging Het
Taar2 A G 10: 23,941,368 T269A possibly damaging Het
Tapbp C T 17: 33,925,704 T258I probably damaging Het
Tcf20 T A 15: 82,857,142 Q36L possibly damaging Het
Tmem131l A T 3: 83,942,500 M260K probably damaging Het
Tnc T A 4: 64,016,824 probably benign Het
Ugp2 T A 11: 21,354,345 E27D probably benign Het
Wdr27 A T 17: 14,928,310 C140* probably null Het
Wnt2b T C 3: 104,953,133 T153A possibly damaging Het
Xirp2 A T 2: 67,513,375 T1987S probably benign Het
Zfp36l1 C A 12: 80,110,464 G48C probably damaging Het
Zfp474 A T 18: 52,638,493 I73F possibly damaging Het
Zfp790 T A 7: 29,828,563 F224L probably benign Het
Other mutations in Syna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Syna APN 5 134559480 missense probably damaging 0.99
IGL03183:Syna APN 5 134558290 missense probably benign 0.03
R0051:Syna UTSW 5 134559543 missense probably damaging 1.00
R0051:Syna UTSW 5 134559543 missense probably damaging 0.99
R0137:Syna UTSW 5 134559460 missense possibly damaging 0.93
R0920:Syna UTSW 5 134559102 missense probably benign 0.12
R1525:Syna UTSW 5 134559258 missense probably benign
R1801:Syna UTSW 5 134560089 missense probably benign 0.02
R1813:Syna UTSW 5 134559152 missense probably benign 0.06
R1866:Syna UTSW 5 134559915 missense probably damaging 1.00
R1887:Syna UTSW 5 134559252 missense probably benign
R1896:Syna UTSW 5 134559152 missense probably benign 0.06
R2139:Syna UTSW 5 134559252 nonsense probably null
R3896:Syna UTSW 5 134558311 nonsense probably null
R4674:Syna UTSW 5 134558355 missense probably damaging 0.99
R4730:Syna UTSW 5 134558586 missense probably damaging 1.00
R5124:Syna UTSW 5 134559570 missense possibly damaging 0.65
R5482:Syna UTSW 5 134559174 missense possibly damaging 0.94
R6130:Syna UTSW 5 134558268 missense possibly damaging 0.72
R6196:Syna UTSW 5 134559612 missense probably benign 0.14
R6243:Syna UTSW 5 134560114 start gained probably benign
R6945:Syna UTSW 5 134558961 missense probably damaging 0.97
R7999:Syna UTSW 5 134559192 missense probably benign
R8320:Syna UTSW 5 134559720 missense possibly damaging 0.86
R8783:Syna UTSW 5 134559869 missense probably benign 0.01
R8784:Syna UTSW 5 134559869 missense probably benign 0.01
R8785:Syna UTSW 5 134559869 missense probably benign 0.01
R8786:Syna UTSW 5 134559869 missense probably benign 0.01
R8787:Syna UTSW 5 134559869 missense probably benign 0.01
X0022:Syna UTSW 5 134559573 missense probably benign 0.01
Z1088:Syna UTSW 5 134558529 missense probably benign 0.01
Posted On 2011-12-09