Incidental Mutation 'IGL03304:Syce1'
ID416330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syce1
Ensembl Gene ENSMUSG00000025480
Gene Namesynaptonemal complex central element protein 1
Synonyms4933406J07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03304
Quality Score
Status
Chromosome7
Chromosomal Location140777229-140787852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140777710 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 314 (V314D)
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 possibly damaging
Transcript: ENSMUST00000026553
AA Change: V314D

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026553
Gene: ENSMUSG00000025480
AA Change: V314D

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,142,242 Y534C probably damaging Het
Acy1 A T 9: 106,435,466 probably null Het
Adamts4 T C 1: 171,252,869 probably benign Het
Anapc1 A T 2: 128,627,113 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aoah A G 13: 20,915,010 probably benign Het
Atp9b A T 18: 80,917,877 Y40N probably damaging Het
Brd8 A G 18: 34,614,580 probably benign Het
Cd274 A C 19: 29,384,102 E270A probably damaging Het
Cic T A 7: 25,284,849 V23E probably damaging Het
Cpeb4 T C 11: 31,872,739 L151P probably damaging Het
D3Ertd751e G A 3: 41,746,729 probably null Het
Diaph1 A T 18: 37,854,573 D1043E possibly damaging Het
Hmcn1 T A 1: 150,630,231 N3848I probably damaging Het
Ifi211 A T 1: 173,907,707 M52K probably damaging Het
Itih4 T C 14: 30,898,049 I747T probably damaging Het
Kif1bp A C 10: 62,559,303 L520R probably damaging Het
Lcat T C 8: 105,940,063 M276V possibly damaging Het
Mmp1b A T 9: 7,384,701 D282E probably damaging Het
Mst1r T A 9: 107,907,938 V265D probably damaging Het
Muc4 T A 16: 32,751,439 L439* probably null Het
Nlrp4e T A 7: 23,353,343 probably null Het
Ogfod2 A T 5: 124,112,823 D24V probably damaging Het
Olfr1413 T C 1: 92,573,303 V44A probably benign Het
Olfr1458 A G 19: 13,102,741 S182P probably damaging Het
Olfr356 T C 2: 36,937,548 L143P probably damaging Het
Pcnx T A 12: 81,982,029 W1661R probably damaging Het
Pdzph1 G A 17: 58,880,646 T1193I probably damaging Het
Pias3 A G 3: 96,700,031 T152A possibly damaging Het
Pla2g5 A T 4: 138,804,569 Y41* probably null Het
Plxna4 A G 6: 32,165,051 probably benign Het
Ppp2r2a A C 14: 67,016,528 V397G probably benign Het
Ripor3 A G 2: 167,980,928 probably benign Het
Slc35a3 A G 3: 116,687,311 L101P probably damaging Het
Sptan1 G A 2: 29,986,493 R295Q probably damaging Het
Tex52 T C 6: 128,379,532 Y63H possibly damaging Het
Tmem63a T A 1: 180,968,853 Y580* probably null Het
Ube2m T A 7: 13,035,758 probably benign Het
Vmn1r50 G T 6: 90,107,643 K123N probably damaging Het
Other mutations in Syce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Syce1 APN 7 140779632 missense probably benign
R0918:Syce1 UTSW 7 140780523 missense probably damaging 1.00
R1106:Syce1 UTSW 7 140779896 missense probably damaging 1.00
R1169:Syce1 UTSW 7 140778207 missense probably benign 0.00
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
Posted On2016-08-02