Incidental Mutation 'IGL01128:Syna'
ID51159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syna
Ensembl Gene ENSMUSG00000085957
Gene Namesyncytin a
Synonymssyncytin-A, Gm52
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01128
Quality Score
Status
Chromosome5
Chromosomal Location134558146-134560171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134559480 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 205 (D205G)
Ref Sequence ENSEMBL: ENSMUSP00000116437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000149604]
Predicted Effect probably damaging
Transcript: ENSMUST00000149604
AA Change: D205G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: D205G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Ahi1 A G 10: 21,074,433 T128A probably benign Het
Bves T A 10: 45,353,848 F249L probably damaging Het
Capns1 T C 7: 30,190,133 I214V probably benign Het
Cgnl1 G T 9: 71,724,561 Q503K possibly damaging Het
Ep300 A G 15: 81,630,006 probably benign Het
Fam117b T A 1: 59,969,018 F337Y probably damaging Het
Fam178b A T 1: 36,644,354 V95E probably damaging Het
Gak T A 5: 108,592,370 M560L probably damaging Het
Gna11 C A 10: 81,530,884 A331S probably damaging Het
Gtf3c3 A C 1: 54,428,876 F201V possibly damaging Het
Kat6b G A 14: 21,660,860 R734H probably benign Het
Lag3 T C 6: 124,909,417 D191G probably damaging Het
Mttp T A 3: 138,133,997 probably null Het
Nlgn3 A T X: 101,320,092 T790S probably benign Het
Olfr1487 G A 19: 13,619,746 E195K probably damaging Het
Olfr743 A G 14: 50,533,949 D179G probably damaging Het
Pkd2l2 T A 18: 34,417,015 Y238N probably damaging Het
Plg A T 17: 12,396,699 probably benign Het
Ptprm A T 17: 67,042,101 C376S probably damaging Het
Rexo1 T C 10: 80,549,739 D495G probably benign Het
Rims1 A T 1: 22,534,175 V315D probably damaging Het
Ros1 G A 10: 52,142,328 Q745* probably null Het
Satb1 A G 17: 51,805,289 V99A probably damaging Het
Sema3e C T 5: 14,232,115 P422S probably damaging Het
Stkld1 G T 2: 26,951,471 W476L probably benign Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Togaram1 A G 12: 64,980,876 T880A probably benign Het
Uckl1 T C 2: 181,570,337 E363G probably damaging Het
Yeats2 T A 16: 20,161,968 probably benign Het
Other mutations in Syna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Syna APN 5 134559717 missense possibly damaging 0.94
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
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 On2013-06-21