Incidental Mutation 'IGL02116:Rec8'
ID 280403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rec8
Ensembl Gene ENSMUSG00000002324
Gene Name REC8 meiotic recombination protein
Synonyms Rec8L1, mrec
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02116
Quality Score
Status
Chromosome 14
Chromosomal Location 55855494-55862852 bp(+) (GRCm39)
Type of Mutation splice site (845 bp from exon)
DNA Base Change (assembly) T to A at 55862336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002395] [ENSMUST00000047131] [ENSMUST00000135221] [ENSMUST00000141499] [ENSMUST00000148351]
AlphaFold Q8C5S7
Predicted Effect probably benign
Transcript: ENSMUST00000002395
SMART Domains Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324

DomainStartEndE-ValueType
Pfam:Rad21_Rec8_N 1 117 2.2e-26 PFAM
low complexity region 235 249 N/A INTRINSIC
low complexity region 329 347 N/A INTRINSIC
coiled coil region 423 458 N/A INTRINSIC
low complexity region 497 521 N/A INTRINSIC
Pfam:Rad21_Rec8 536 590 9.2e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000047131
SMART Domains Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
Blast:IBN_N 101 170 4e-20 BLAST
Blast:IBN_N 224 293 4e-31 BLAST
low complexity region 307 321 N/A INTRINSIC
Pfam:HEAT 395 425 7.7e-7 PFAM
Blast:ARM 465 499 8e-13 BLAST
low complexity region 500 511 N/A INTRINSIC
low complexity region 636 660 N/A INTRINSIC
low complexity region 733 743 N/A INTRINSIC
low complexity region 811 830 N/A INTRINSIC
low complexity region 851 864 N/A INTRINSIC
Pfam:HEAT 901 931 1.9e-5 PFAM
Pfam:HEAT_EZ 914 969 2.3e-9 PFAM
low complexity region 1043 1053 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127773
Predicted Effect probably benign
Transcript: ENSMUST00000135221
SMART Domains Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
Blast:IBN_N 101 170 3e-20 BLAST
Blast:IBN_N 224 293 2e-31 BLAST
low complexity region 307 321 N/A INTRINSIC
Pfam:HEAT 395 425 7.4e-7 PFAM
Blast:ARM 465 499 7e-13 BLAST
low complexity region 500 511 N/A INTRINSIC
low complexity region 636 660 N/A INTRINSIC
low complexity region 733 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155193
Predicted Effect probably benign
Transcript: ENSMUST00000156420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155464
Predicted Effect probably null
Transcript: ENSMUST00000141499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228754
Predicted Effect probably benign
Transcript: ENSMUST00000148351
SMART Domains Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227922
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 kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are infertile and exhibit small ovaries and testes. Females show absence of ovarian follicles and abnormal meiosis, while males exhibit abnormal chromosome pairing during meiosis, abnormal synaptonemal complex formation, and arrest of male meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,981,018 (GRCm39) N190K possibly damaging Het
Adamts19 T C 18: 58,970,571 (GRCm39) S52P probably benign Het
Ahrr G T 13: 74,368,692 (GRCm39) H160Q possibly damaging Het
Ap4s1 T C 12: 51,769,833 (GRCm39) probably null Het
Atrn T C 2: 130,800,009 (GRCm39) V462A probably damaging Het
D630003M21Rik T C 2: 158,045,130 (GRCm39) S800G possibly damaging Het
Dach1 T G 14: 98,138,859 (GRCm39) N528T probably damaging Het
Foxl2 T C 9: 98,838,111 (GRCm39) M133T probably damaging Het
Grsf1 A G 5: 88,818,033 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,042,772 (GRCm39) I43T probably damaging Het
Helz2 T C 2: 180,873,978 (GRCm39) Y2172C probably damaging Het
Hey1 G T 3: 8,731,640 (GRCm39) probably null Het
Hnrnph3 A T 10: 62,851,855 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,568 (GRCm39) Y81* probably null Het
Inhba A G 13: 16,201,557 (GRCm39) H373R probably benign Het
Leo1 T A 9: 75,356,697 (GRCm39) I359K probably damaging Het
Mcoln3 A G 3: 145,839,664 (GRCm39) N339D probably benign Het
Mrpl19 G A 6: 81,942,758 (GRCm39) P51S probably benign Het
Nadk C A 4: 155,663,763 (GRCm39) probably benign Het
Or5an11 A G 19: 12,246,374 (GRCm39) Y260C probably damaging Het
Or5d39 T A 2: 87,979,632 (GRCm39) T244S probably benign Het
Pappa2 T G 1: 158,672,695 (GRCm39) I1083L probably benign Het
R3hdm2 A G 10: 127,334,421 (GRCm39) D948G probably damaging Het
Rbm15 A T 3: 107,237,596 (GRCm39) L934Q probably damaging Het
Riok1 A G 13: 38,243,932 (GRCm39) E486G possibly damaging Het
Rptn A C 3: 93,302,404 (GRCm39) E40A possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 T C 1: 45,950,688 (GRCm39) T255A probably benign Het
Slc5a8 A T 10: 88,755,362 (GRCm39) M490L probably benign Het
Sned1 C A 1: 93,209,447 (GRCm39) C62* probably null Het
Sptbn4 T C 7: 27,063,782 (GRCm39) T2215A probably benign Het
Synpo T A 18: 60,736,528 (GRCm39) R234W probably damaging Het
Tmco3 A T 8: 13,342,706 (GRCm39) probably benign Het
Tmprss13 A G 9: 45,244,972 (GRCm39) D250G probably benign Het
Vmn2r31 T A 7: 7,397,548 (GRCm39) I237F probably damaging Het
Wdr90 A G 17: 26,078,466 (GRCm39) V306A probably benign Het
Zfp629 A G 7: 127,211,890 (GRCm39) W8R probably damaging Het
Zim1 T C 7: 6,681,253 (GRCm39) T137A probably benign Het
Other mutations in Rec8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Rec8 APN 14 55,860,972 (GRCm39) nonsense probably null
IGL00427:Rec8 APN 14 55,856,108 (GRCm39) missense probably damaging 1.00
R1349:Rec8 UTSW 14 55,856,431 (GRCm39) missense probably damaging 1.00
R1372:Rec8 UTSW 14 55,856,431 (GRCm39) missense probably damaging 1.00
R1564:Rec8 UTSW 14 55,859,732 (GRCm39) splice site probably null
R1667:Rec8 UTSW 14 55,856,253 (GRCm39) missense probably damaging 1.00
R1970:Rec8 UTSW 14 55,861,599 (GRCm39) missense probably damaging 1.00
R3157:Rec8 UTSW 14 55,862,763 (GRCm39) missense probably damaging 0.96
R3625:Rec8 UTSW 14 55,859,954 (GRCm39) missense possibly damaging 0.94
R3919:Rec8 UTSW 14 55,858,716 (GRCm39) missense probably benign 0.02
R4280:Rec8 UTSW 14 55,856,091 (GRCm39) missense probably damaging 1.00
R4282:Rec8 UTSW 14 55,856,091 (GRCm39) missense probably damaging 1.00
R4283:Rec8 UTSW 14 55,856,091 (GRCm39) missense probably damaging 1.00
R4622:Rec8 UTSW 14 55,862,215 (GRCm39) missense probably damaging 1.00
R4894:Rec8 UTSW 14 55,862,787 (GRCm39) missense probably damaging 1.00
R5488:Rec8 UTSW 14 55,860,283 (GRCm39) missense probably benign 0.00
R5489:Rec8 UTSW 14 55,860,283 (GRCm39) missense probably benign 0.00
R6113:Rec8 UTSW 14 55,859,935 (GRCm39) missense probably damaging 0.99
R6264:Rec8 UTSW 14 55,856,636 (GRCm39) missense probably damaging 1.00
R6439:Rec8 UTSW 14 55,856,076 (GRCm39) missense possibly damaging 0.50
R7952:Rec8 UTSW 14 55,862,760 (GRCm39) missense possibly damaging 0.93
Z1088:Rec8 UTSW 14 55,862,604 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16