Incidental Mutation 'R0041:Synb'
ID 18565
Institutional Source Beutler Lab
Gene Symbol Synb
Ensembl Gene ENSMUSG00000047977
Gene Name syncytin b
Synonyms D930020E02Rik, syncytin-B
MMRRC Submission 038335-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0041 (G1)
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 69526793-69531748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69747926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 193 (T193A)
Ref Sequence ENSEMBL: ENSMUSP00000139267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059362] [ENSMUST00000184652]
AlphaFold Q8BI41
Predicted Effect probably damaging
Transcript: ENSMUST00000059362
AA Change: T193A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061107
Gene: ENSMUSG00000047977
AA Change: T193A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:TLV_coat 333 579 9.7e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183759
Predicted Effect probably damaging
Transcript: ENSMUST00000184652
AA Change: T193A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139267
Gene: ENSMUSG00000098773
AA Change: T193A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:TLV_coat 333 579 9.7e-62 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 77.6%
  • 3x: 65.6%
  • 10x: 37.8%
  • 20x: 19.1%
Validation Efficiency 90% (47/52)
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 an endogenous retrovirus provirus 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 impaired syncytiotrophoblast layer II formation, growth retardation and partial preweaning lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A G 5: 50,117,901 (GRCm39) Y1216H probably benign Het
Avpi1 C A 19: 42,112,223 (GRCm39) E112* probably null Het
Braf C T 6: 39,617,413 (GRCm39) A534T probably damaging Het
Cntnap5c C A 17: 58,183,464 (GRCm39) Q57K probably benign Het
Dlk1 G C 12: 109,421,439 (GRCm39) G50A probably damaging Het
Dtna C T 18: 23,779,932 (GRCm39) probably benign Het
Fancm T A 12: 65,153,217 (GRCm39) C1224* probably null Het
Gigyf2 A C 1: 87,306,698 (GRCm39) R129S probably damaging Het
Kcnk2 G T 1: 189,027,888 (GRCm39) N122K probably benign Het
Lrrc7 G A 3: 157,869,897 (GRCm39) probably benign Het
Msto1 A G 3: 88,817,542 (GRCm39) S464P probably damaging Het
Myh1 A C 11: 67,099,904 (GRCm39) N605H possibly damaging Het
Olfml1 A T 7: 107,189,393 (GRCm39) I153L possibly damaging Het
Plekhg1 T A 10: 3,914,074 (GRCm39) N1265K probably benign Het
Prss59 A T 6: 40,903,042 (GRCm39) L110* probably null Het
Rlf T A 4: 121,007,126 (GRCm39) H618L probably damaging Het
Rock1 T C 18: 10,140,240 (GRCm39) D117G probably damaging Het
Serpinb6d A G 13: 33,851,615 (GRCm39) D124G probably damaging Het
Slco1a1 A G 6: 141,864,185 (GRCm39) probably benign Het
Swap70 A G 7: 109,878,562 (GRCm39) K511E probably benign Het
Syt11 A G 3: 88,655,210 (GRCm39) Y364H probably damaging Het
Vcan T A 13: 89,810,104 (GRCm39) H3229L probably damaging Het
Wdr64 G A 1: 175,554,037 (GRCm39) W189* probably null Het
Zfp1001 A G 2: 150,165,745 (GRCm39) I42V possibly damaging Het
Posted On 2013-03-25