Incidental Mutation 'R3896:Syna'
ID 310538
Institutional Source Beutler Lab
Gene Symbol Syna
Ensembl Gene ENSMUSG00000085957
Gene Name syncytin a
Synonyms syncytin-A, Gm52
MMRRC Submission 040807-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3896 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 134558146-134560171 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 134558311 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 595 (K595*)
Ref Sequence ENSEMBL: ENSMUSP00000116437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000149604]
AlphaFold Q5G5D5
Predicted Effect probably null
Transcript: ENSMUST00000149604
AA Change: K595*
SMART Domains Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: K595*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,651,113 N13K possibly damaging Het
4931428F04Rik T A 8: 105,283,288 H343L probably benign Het
Alas1 G T 9: 106,241,801 probably null Het
Arhgap20 A T 9: 51,816,837 I117F probably damaging Het
Asz1 A G 6: 18,075,767 I269T probably benign Het
Atp8a2 C A 14: 60,026,140 probably null Het
Atp8b2 A T 3: 89,957,319 I163K probably damaging Het
Casd1 T A 6: 4,640,980 F700L probably damaging Het
Ccdc80 A G 16: 45,096,621 D580G probably benign Het
Cog7 C T 7: 121,941,169 probably benign Het
Cyp2c66 T C 19: 39,142,278 V112A possibly damaging Het
D130040H23Rik T A 8: 69,302,958 C356S probably damaging Het
Emb A G 13: 117,273,062 *331W probably null Het
Enpp3 A C 10: 24,777,949 S703R possibly damaging Het
Fam13b T C 18: 34,462,955 probably benign Het
Foxp1 T A 6: 99,075,936 Q97L probably benign Het
Gdf10 A T 14: 33,934,481 N467Y probably damaging Het
Gm29394 C T 15: 58,048,628 probably benign Het
Gsn T C 2: 35,302,638 S522P possibly damaging Het
Hydin T A 8: 110,509,079 F1899I possibly damaging Het
Ints1 C A 5: 139,757,644 E1658* probably null Het
Jakmip2 A T 18: 43,549,686 F691Y probably benign Het
Klhl28 A G 12: 64,957,559 F60S probably damaging Het
Loxhd1 C T 18: 77,382,023 S992L possibly damaging Het
Lrp1b A T 2: 40,922,428 probably null Het
Macf1 A T 4: 123,471,194 I3258N possibly damaging Het
Map4k2 G T 19: 6,341,928 E91* probably null Het
Myo1b A T 1: 51,773,261 V739E probably damaging Het
Naa35 C T 13: 59,607,295 T185I probably damaging Het
Olfr1229 A G 2: 89,283,097 F33S possibly damaging Het
Olfr1418 T C 19: 11,855,587 D122G probably damaging Het
Reg4 A T 3: 98,224,766 probably benign Het
Rnaseh2b A C 14: 62,360,457 probably benign Het
Rnf123 G A 9: 108,069,103 probably benign Het
Scn8a A T 15: 101,035,498 M1528L probably benign Het
Sdr16c5 T A 4: 4,006,609 T228S probably damaging Het
Sgo2a T C 1: 58,013,646 C202R probably damaging Het
Slc25a46 A G 18: 31,583,672 L259P probably damaging Het
Slc4a4 A G 5: 89,197,766 probably benign Het
Sox14 G T 9: 99,875,583 H34Q probably damaging Het
Taf4 A G 2: 179,932,014 V687A probably benign Het
Tmbim7 C T 5: 3,661,916 H54Y probably benign Het
Vmn1r212 T C 13: 22,883,897 M89V probably benign Het
Vmn1r86 T C 7: 13,102,166 Y261C probably benign Het
Xkr4 A G 1: 3,216,191 I592T probably damaging Het
Ywhah A G 5: 33,027,005 Y184C probably damaging Het
Zkscan16 C T 4: 58,946,125 probably benign Het
Other mutations in Syna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Syna APN 5 134559717 missense possibly damaging 0.94
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 0.99
R0051:Syna UTSW 5 134559543 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGAAACTACCACCGTTTAAGC -3'
(R):5'- AAGCTCGAGTTCTTGGATCC -3'

Sequencing Primer
(F):5'- AAATGGATTAGTTCTTGCAAGTGGC -3'
(R):5'- CGAGTTCTTGGATCCAGTGGC -3'
Posted On 2015-04-17