Incidental Mutation 'IGL02402:Sycp3'
ID 291943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sycp3
Ensembl Gene ENSMUSG00000020059
Gene Name synaptonemal complex protein 3
Synonyms Scp3, Cor1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL02402
Quality Score
Status
Chromosome 10
Chromosomal Location 88295449-88309098 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 88302425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020252] [ENSMUST00000117440] [ENSMUST00000123244] [ENSMUST00000125612] [ENSMUST00000148899]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020252
SMART Domains Protein: ENSMUSP00000020252
Gene: ENSMUSG00000020059

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Cor1 101 229 6.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117440
SMART Domains Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 61 136 8.8e-18 PFAM
transmembrane domain 159 181 N/A INTRINSIC
transmembrane domain 191 213 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 263 282 N/A INTRINSIC
transmembrane domain 295 317 N/A INTRINSIC
transmembrane domain 349 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123244
SMART Domains Protein: ENSMUSP00000137704
Gene: ENSMUSG00000020059

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125612
SMART Domains Protein: ENSMUSP00000137800
Gene: ENSMUSG00000020059

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Cor1 100 229 7.6e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134318
SMART Domains Protein: ENSMUSP00000122428
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148899
SMART Domains Protein: ENSMUSP00000120167
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
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 an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutants are male infertile and female sub-fertile. Reduced litter size in females is due to achiasmatic oocytes, resulting in aneuploidy and embryonic death. Meiosis in males blocks at early prophase with lack of synaptonemal complexes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,707,543 (GRCm39) F568L probably benign Het
AW112010 T A 19: 11,025,741 (GRCm39) noncoding transcript Het
Bbs4 A T 9: 59,237,729 (GRCm39) L205H probably benign Het
Bmal2 T C 6: 146,711,266 (GRCm39) V90A possibly damaging Het
C2cd2l T C 9: 44,227,878 (GRCm39) K121R probably benign Het
Car14 A G 3: 95,806,870 (GRCm39) V198A possibly damaging Het
Cd22 G T 7: 30,576,955 (GRCm39) H117Q possibly damaging Het
Celf1 T A 2: 90,829,068 (GRCm39) I45N probably damaging Het
Cluh T C 11: 74,547,997 (GRCm39) S103P probably damaging Het
Cyp39a1 T A 17: 44,002,613 (GRCm39) L276Q probably benign Het
Ddx27 T G 2: 166,857,245 (GRCm39) probably benign Het
Defb4 A T 8: 19,251,279 (GRCm39) I49F possibly damaging Het
Dock8 C A 19: 25,055,509 (GRCm39) T157K probably benign Het
Dpp6 T C 5: 27,839,541 (GRCm39) V352A probably damaging Het
Elmo2 C T 2: 165,139,312 (GRCm39) E412K probably damaging Het
Eme1 G A 11: 94,541,733 (GRCm39) P30S possibly damaging Het
Espnl G T 1: 91,272,535 (GRCm39) A632S probably benign Het
Gfod1 C A 13: 43,354,211 (GRCm39) A255S probably benign Het
Helz2 T A 2: 180,872,704 (GRCm39) K2432M probably damaging Het
Idua T C 5: 108,827,657 (GRCm39) L157P probably damaging Het
Ifi207 T A 1: 173,555,159 (GRCm39) D848V probably damaging Het
Jag1 C T 2: 136,927,858 (GRCm39) S851N possibly damaging Het
Kat6b T A 14: 21,681,415 (GRCm39) F571I probably damaging Het
Lrrc74b G A 16: 17,376,028 (GRCm39) probably benign Het
Mst1r A G 9: 107,794,026 (GRCm39) K1160E probably damaging Het
Muc19 C A 15: 91,778,192 (GRCm39) noncoding transcript Het
Nrg4 G A 9: 55,135,198 (GRCm39) probably benign Het
Ociad1 T C 5: 73,458,037 (GRCm39) I12T possibly damaging Het
Or1o3 A G 17: 37,574,111 (GRCm39) V148A possibly damaging Het
Pold3 A G 7: 99,749,618 (GRCm39) probably benign Het
Psmd5 T C 2: 34,747,784 (GRCm39) E291G probably damaging Het
Ptpn23 A G 9: 110,222,781 (GRCm39) V92A possibly damaging Het
Rab44 T A 17: 29,359,490 (GRCm39) H559Q probably benign Het
Rbm6 T C 9: 107,730,051 (GRCm39) D199G probably damaging Het
Rps18-ps3 C T 8: 107,989,754 (GRCm39) noncoding transcript Het
Septin10 T C 10: 59,006,758 (GRCm39) T93A probably benign Het
Slmap T C 14: 26,184,865 (GRCm39) T111A probably damaging Het
Spata25 C T 2: 164,670,377 (GRCm39) M1I probably null Het
Spink5 T A 18: 44,100,171 (GRCm39) C63S probably damaging Het
Tarbp1 A G 8: 127,177,567 (GRCm39) probably benign Het
Thbs2 A T 17: 14,891,716 (GRCm39) N940K probably benign Het
Tmem106b A T 6: 13,081,600 (GRCm39) Q169L possibly damaging Het
Trpm6 G T 19: 18,764,120 (GRCm39) C242F probably benign Het
Ush2a T A 1: 187,999,305 (GRCm39) M205K probably benign Het
Utp18 A C 11: 93,774,617 (GRCm39) probably benign Het
Other mutations in Sycp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02103:Sycp3 APN 10 88,302,334 (GRCm39) missense possibly damaging 0.65
PIT4378001:Sycp3 UTSW 10 88,302,366 (GRCm39) nonsense probably null
R1468:Sycp3 UTSW 10 88,305,454 (GRCm39) missense possibly damaging 0.75
R1468:Sycp3 UTSW 10 88,305,454 (GRCm39) missense possibly damaging 0.75
R2857:Sycp3 UTSW 10 88,303,234 (GRCm39) missense probably damaging 1.00
R2858:Sycp3 UTSW 10 88,303,234 (GRCm39) missense probably damaging 1.00
R2897:Sycp3 UTSW 10 88,308,544 (GRCm39) missense possibly damaging 0.92
R2898:Sycp3 UTSW 10 88,308,544 (GRCm39) missense possibly damaging 0.92
R4194:Sycp3 UTSW 10 88,299,237 (GRCm39) missense probably benign 0.01
R5683:Sycp3 UTSW 10 88,308,797 (GRCm39) missense probably damaging 1.00
R6882:Sycp3 UTSW 10 88,308,791 (GRCm39) nonsense probably null
R7273:Sycp3 UTSW 10 88,305,428 (GRCm39) missense probably damaging 1.00
R7853:Sycp3 UTSW 10 88,302,368 (GRCm39) missense probably damaging 1.00
R8055:Sycp3 UTSW 10 88,298,438 (GRCm39) missense probably damaging 1.00
R8147:Sycp3 UTSW 10 88,298,467 (GRCm39) critical splice donor site probably null
R8720:Sycp3 UTSW 10 88,298,394 (GRCm39) missense probably benign 0.38
R8872:Sycp3 UTSW 10 88,302,388 (GRCm39) missense probably damaging 1.00
R9163:Sycp3 UTSW 10 88,299,734 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16