Incidental Mutation 'R1430:Syce1'
ID 161481
Institutional Source Beutler Lab
Gene Symbol Syce1
Ensembl Gene ENSMUSG00000025480
Gene Name synaptonemal complex central element protein 1
Synonyms 4933406J07Rik
MMRRC Submission 039486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1430 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140357142-140367765 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 140359351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000026553] [ENSMUST00000209253] [ENSMUST00000210235] [ENSMUST00000211616]
AlphaFold Q9D495
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
SMART Domains Protein: ENSMUSP00000026553
Gene: ENSMUSG00000025480

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,204,287 (GRCm39) probably benign Het
Aoc2 A G 11: 101,217,321 (GRCm39) Y468C probably damaging Het
Cdyl2 A G 8: 117,306,056 (GRCm39) probably benign Het
Cfh A G 1: 140,030,436 (GRCm39) probably benign Het
Cyp2j9 G T 4: 96,472,201 (GRCm39) probably benign Het
Dapk1 T G 13: 60,901,957 (GRCm39) F929V probably benign Het
Dhx9 A T 1: 153,359,493 (GRCm39) M35K probably benign Het
Dnah5 G A 15: 28,346,003 (GRCm39) E2448K probably benign Het
Doc2b A T 11: 75,670,981 (GRCm39) C217S possibly damaging Het
Dock11 A G X: 35,333,565 (GRCm39) I2010V probably benign Het
Dram1 T C 10: 88,160,641 (GRCm39) T227A possibly damaging Het
Eppin G A 2: 164,431,323 (GRCm39) T101M probably damaging Het
F13a1 T C 13: 37,082,105 (GRCm39) D533G probably damaging Het
Fmo1 C A 1: 162,667,293 (GRCm39) R174L probably damaging Het
Fsip2 C A 2: 82,828,407 (GRCm39) L6735I possibly damaging Het
Gab1 G T 8: 81,515,241 (GRCm39) T359K probably benign Het
Ggta1 T C 2: 35,298,029 (GRCm39) D118G possibly damaging Het
Gramd1a A G 7: 30,832,211 (GRCm39) S609P probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Lama1 A G 17: 68,089,150 (GRCm39) Y1607C possibly damaging Het
Lrrc24 G T 15: 76,607,992 (GRCm39) probably null Het
Mak C A 13: 41,223,760 (GRCm39) probably benign Het
Megf8 G A 7: 25,063,768 (GRCm39) R2708Q possibly damaging Het
Mettl24 T C 10: 40,613,791 (GRCm39) C177R probably damaging Het
Mgam G C 6: 40,733,305 (GRCm39) E812D probably benign Het
Mroh8 T C 2: 157,111,445 (GRCm39) R170G possibly damaging Het
Msn G A X: 95,196,325 (GRCm39) V130I probably benign Het
Ncoa4 G A 14: 31,898,679 (GRCm39) V500I probably benign Het
Or2aj5 A G 16: 19,424,752 (GRCm39) L222P probably damaging Het
Or2y1b A G 11: 49,208,928 (GRCm39) probably null Het
Or5an6 C T 19: 12,371,801 (GRCm39) T58I probably benign Het
Or8k3b T C 2: 86,520,866 (GRCm39) Y151C possibly damaging Het
Ppm1h T C 10: 122,693,004 (GRCm39) S302P probably damaging Het
Prkce T A 17: 86,866,565 (GRCm39) probably benign Het
Psenen T C 7: 30,261,815 (GRCm39) I34V probably benign Het
Rbl1 T C 2: 157,011,826 (GRCm39) T710A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc1a5 A G 7: 16,516,328 (GRCm39) D168G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Tbc1d23 G T 16: 57,034,573 (GRCm39) D75E probably damaging Het
Tbk1 A G 10: 121,395,839 (GRCm39) V418A probably benign Het
Tmem132e T C 11: 82,329,122 (GRCm39) V467A probably damaging Het
Tmem241 T C 18: 12,126,651 (GRCm39) D144G probably benign Het
Tsc2 A G 17: 24,817,997 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,617 (GRCm39) F420I probably benign Het
Usp34 A G 11: 23,409,151 (GRCm39) T2645A probably damaging Het
Utp14b A G 1: 78,644,111 (GRCm39) K670E probably benign Het
Zfp407 C T 18: 84,227,580 (GRCm39) V2010M probably benign Het
Zfp879 A G 11: 50,724,784 (GRCm39) F91L probably benign Het
Zfyve26 A G 12: 79,329,591 (GRCm39) S532P probably benign Het
Other mutations in Syce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Syce1 APN 7 140,359,545 (GRCm39) missense probably benign
IGL03304:Syce1 APN 7 140,357,623 (GRCm39) missense possibly damaging 0.67
R0918:Syce1 UTSW 7 140,360,436 (GRCm39) missense probably damaging 1.00
R1106:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R1169:Syce1 UTSW 7 140,358,120 (GRCm39) missense probably benign 0.00
R1436:Syce1 UTSW 7 140,357,593 (GRCm39) missense possibly damaging 0.84
R1650:Syce1 UTSW 7 140,358,300 (GRCm39) missense possibly damaging 0.62
R2081:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R2082:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R3890:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R3891:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R4006:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R4007:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R4077:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R4078:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R4079:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R4817:Syce1 UTSW 7 140,358,336 (GRCm39) missense probably benign 0.00
R4824:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
R5040:Syce1 UTSW 7 140,358,978 (GRCm39) missense probably damaging 1.00
R5766:Syce1 UTSW 7 140,357,894 (GRCm39) missense probably damaging 1.00
R6380:Syce1 UTSW 7 140,358,978 (GRCm39) missense probably damaging 1.00
R7048:Syce1 UTSW 7 140,359,281 (GRCm39) missense possibly damaging 0.73
R8681:Syce1 UTSW 7 140,361,987 (GRCm39) missense possibly damaging 0.58
Y4338:Syce1 UTSW 7 140,359,809 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATAGCTTCACCCCTTGACCATC -3'
(R):5'- GCACTCAGAGGGCACTGTTGTTATC -3'

Sequencing Primer
(F):5'- TTGACCATCCAGGACTATGGC -3'
(R):5'- CTTACAGAGACCCTGAGGATTATGC -3'
Posted On 2014-03-14