Incidental Mutation 'R1169:Syce1'
ID101493
Institutional Source Beutler Lab
Gene Symbol Syce1
Ensembl Gene ENSMUSG00000025480
Gene Namesynaptonemal complex central element protein 1
Synonyms4933406J07Rik
MMRRC Submission 039242-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1169 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location140777229-140787852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140778207 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 255 (F255S)
Ref Sequence ENSEMBL: ENSMUSP00000026553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000026553] [ENSMUST00000209253] [ENSMUST00000210235] [ENSMUST00000211616]
Predicted Effect probably benign
Transcript: ENSMUST00000026552
SMART Domains Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479

DomainStartEndE-ValueType
transmembrane domain 2 23 N/A INTRINSIC
Pfam:p450 33 489 1.4e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026553
AA Change: F255S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026553
Gene: ENSMUSG00000025480
AA Change: F255S

DomainStartEndE-ValueType
Pfam:SYCE1 49 200 5.5e-66 PFAM
coiled coil region 237 294 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209253
Predicted Effect probably benign
Transcript: ENSMUST00000210235
Predicted Effect probably benign
Transcript: ENSMUST00000211616
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit small ovaries and small testes, severe defects in gametogenesis, and infertility in both sexes. Meiosis is arrested, homologous chromosomes fail to synapse, and meiotic double-strand breaks are formed but are notefficiently repaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A G 2: 23,256,982 K275E possibly damaging Het
Abhd17a T C 10: 80,583,947 E275G probably damaging Het
Adam10 T A 9: 70,746,292 I123N probably damaging Het
Adam8 A T 7: 139,983,929 L715Q probably benign Het
Adcyap1r1 T A 6: 55,494,116 F418L probably damaging Het
Ankrd50 A T 3: 38,454,252 I1322K probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atxn7 T C 14: 14,095,468 S389P possibly damaging Het
C4b A T 17: 34,742,972 L100Q probably benign Het
Cacul1 G A 19: 60,580,408 A104V probably damaging Het
Camsap3 T C 8: 3,603,866 F512S probably damaging Het
Casp1 T C 9: 5,299,454 V61A possibly damaging Het
Chd1 T A 17: 15,735,732 F531Y probably damaging Het
Clec2h C T 6: 128,674,795 Q156* probably null Het
Clip2 T A 5: 134,492,250 E978V probably benign Het
Cnpy2 T G 10: 128,323,596 L34R probably damaging Het
Cog6 A T 3: 53,013,844 C114S probably benign Het
Col6a3 A T 1: 90,822,014 V366E possibly damaging Het
Col6a5 A G 9: 105,896,974 probably null Het
Dmbt1 G A 7: 131,074,524 probably null Het
Dok1 A G 6: 83,032,048 F218L possibly damaging Het
Dph7 T A 2: 24,966,571 N178K probably benign Het
Enam A T 5: 88,503,258 E800D probably damaging Het
Fads3 A T 19: 10,054,099 Q205L possibly damaging Het
Fbxo44 T C 4: 148,155,976 H265R probably benign Het
Gli1 T A 10: 127,338,451 S24C probably damaging Het
Gm4894 T A 9: 49,274,226 C43* probably null Het
Gpbp1l1 C T 4: 116,574,366 H74Y possibly damaging Het
H2-Eb2 T A 17: 34,333,357 F59I possibly damaging Het
Hspa14 T C 2: 3,498,124 N211S possibly damaging Het
Ifnlr1 T G 4: 135,705,108 F285C probably benign Het
Igf1r G T 7: 68,165,127 V259L probably benign Het
Igf2bp2 A T 16: 22,078,730 Y244* probably null Het
Ighg2c A T 12: 113,285,952 probably benign Het
Ighv8-14 A T 12: 115,808,455 probably null Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itsn2 A G 12: 4,639,694 K589R probably damaging Het
Khdc1a A C 1: 21,350,271 E38D possibly damaging Het
Krt42 T G 11: 100,263,345 probably null Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lpo T C 11: 87,817,317 N183S possibly damaging Het
Lrrc3 T A 10: 77,900,930 Y224F probably damaging Het
Ly6g6f T A 17: 35,083,264 D99V probably damaging Het
Lyplal1 T C 1: 186,114,334 I42V probably benign Het
Mis18bp1 G A 12: 65,143,283 Q793* probably null Het
Myh10 T G 11: 68,762,841 M346R probably damaging Het
Nav1 G T 1: 135,455,205 H1256Q probably damaging Het
Nbea A G 3: 55,968,323 V1642A probably benign Het
Olfr1066 A G 2: 86,455,587 I228T possibly damaging Het
Olfr1104 A G 2: 87,021,717 F276L probably damaging Het
Olfr1428 C T 19: 12,109,489 R19H probably benign Het
Olfr870 T C 9: 20,171,058 N171S probably benign Het
Orm3 G A 4: 63,357,848 V166M probably damaging Het
Oxct1 T A 15: 4,091,226 I264N probably damaging Het
Paox G A 7: 140,126,331 V55I probably benign Het
Pde4d C A 13: 109,950,928 probably null Het
Pnliprp1 A G 19: 58,734,951 N258S probably damaging Het
Prl7b1 C A 13: 27,606,904 R66L possibly damaging Het
Ptpre G T 7: 135,667,612 C261F probably benign Het
Rho C G 6: 115,932,238 N78K probably damaging Het
Rnf17 A G 14: 56,514,165 N1487D possibly damaging Het
Ryr3 G A 2: 112,733,014 T2922I probably benign Het
Saxo2 A C 7: 82,635,171 F160V possibly damaging Het
Sbf2 A T 7: 110,310,184 Y1786N probably benign Het
Sdad1 A T 5: 92,298,233 V280E probably benign Het
Sgsm1 T C 5: 113,279,485 D90G probably damaging Het
Siglec1 A T 2: 131,074,827 D1169E probably damaging Het
Sim1 T A 10: 50,981,522 V456E probably benign Het
Skint8 T A 4: 111,928,513 I52N possibly damaging Het
Slc27a1 C A 8: 71,580,653 R280S probably benign Het
Slc9a3 G A 13: 74,150,743 V94I probably damaging Het
Sorcs2 C A 5: 36,027,925 V936L possibly damaging Het
Tmc7 G A 7: 118,551,260 S350L probably benign Het
Tmem200a T A 10: 25,994,348 I8F probably damaging Het
Trip6 T C 5: 137,311,920 H322R probably benign Het
Vmn2r72 A T 7: 85,751,309 N177K probably benign Het
Wdr66 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,254,610 probably benign Het
Other mutations in Syce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Syce1 APN 7 140779632 missense probably benign
IGL03304:Syce1 APN 7 140777710 missense possibly damaging 0.67
R0918:Syce1 UTSW 7 140780523 missense probably damaging 1.00
R1106:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R1430:Syce1 UTSW 7 140779438 unclassified probably benign
R1436:Syce1 UTSW 7 140777680 missense possibly damaging 0.84
R1650:Syce1 UTSW 7 140778387 missense possibly damaging 0.62
R2081:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R2082:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R3890:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R3891:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R4006:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R4007:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R4077:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R4078:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R4079:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R4817:Syce1 UTSW 7 140778423 missense probably benign 0.00
R4824:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R5040:Syce1 UTSW 7 140779065 missense probably damaging 1.00
R5766:Syce1 UTSW 7 140777981 missense probably damaging 1.00
R6380:Syce1 UTSW 7 140779065 missense probably damaging 1.00
R7048:Syce1 UTSW 7 140779368 missense possibly damaging 0.73
Y4338:Syce1 UTSW 7 140779896 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15