Incidental Mutation 'R7952:Rec8'
ID 649632
Institutional Source Beutler Lab
Gene Symbol Rec8
Ensembl Gene ENSMUSG00000002324
Gene Name REC8 meiotic recombination protein
Synonyms Rec8L1, mrec
MMRRC Submission 045996-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7952 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55855494-55862852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55862760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 573 (V573A)
Ref Sequence ENSEMBL: ENSMUSP00000002395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002395] [ENSMUST00000047131] [ENSMUST00000135221] [ENSMUST00000141499] [ENSMUST00000148351]
AlphaFold Q8C5S7
Predicted Effect possibly damaging
Transcript: ENSMUST00000002395
AA Change: V573A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: V573A

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 benign
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 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 probably benign
Transcript: ENSMUST00000141499
Predicted Effect probably benign
Transcript: ENSMUST00000148351
SMART Domains Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319

DomainStartEndE-ValueType
IBN_N 24 90 4.4e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156420
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (47/48)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 T C 1: 180,579,903 (GRCm39) S516P possibly damaging Het
Adora1 A G 1: 134,131,024 (GRCm39) S216P possibly damaging Het
Arhgap17 G T 7: 122,885,914 (GRCm39) S739R probably benign Het
Bphl A G 13: 34,230,780 (GRCm39) T75A probably benign Het
Ccdc73 G A 2: 104,775,801 (GRCm39) probably null Het
Cela3b T C 4: 137,149,219 (GRCm39) I262V probably benign Het
Chpf T C 1: 75,455,586 (GRCm39) N55S probably benign Het
Chst8 A G 7: 34,374,919 (GRCm39) Y307H probably damaging Het
Cmtm2b G T 8: 105,057,203 (GRCm39) E188* probably null Het
Cmya5 TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG 13: 93,233,512 (GRCm39) probably benign Het
Cxadr C T 16: 78,131,123 (GRCm39) T213M possibly damaging Het
D3Ertd751e T A 3: 41,703,096 (GRCm39) probably null Het
Dhx32 T C 7: 133,350,725 (GRCm39) Y115C probably benign Het
Dop1b C A 16: 93,546,848 (GRCm39) T284K possibly damaging Het
Dync2h1 A G 9: 7,129,802 (GRCm39) V1732A possibly damaging Het
Egf C T 3: 129,533,645 (GRCm39) R65Q probably damaging Het
Fat4 T G 3: 38,945,870 (GRCm39) S1588A probably damaging Het
Fmnl3 A G 15: 99,220,518 (GRCm39) V588A probably damaging Het
Galnt3 C T 2: 65,928,186 (GRCm39) E237K probably benign Het
Grik2 T C 10: 49,298,633 (GRCm39) I363V probably benign Het
Grik3 C T 4: 125,598,340 (GRCm39) T769I probably damaging Het
Hpd A T 5: 123,316,327 (GRCm39) D141E possibly damaging Het
Hrc A T 7: 44,985,692 (GRCm39) D281V probably damaging Het
Igfn1 A T 1: 135,891,693 (GRCm39) I2274K probably damaging Het
Iqgap3 A G 3: 88,005,677 (GRCm39) I502V probably benign Het
Kcnh8 A T 17: 53,266,493 (GRCm39) Q835L probably benign Het
Kmt2d C T 15: 98,748,649 (GRCm39) G2892R unknown Het
Lama4 T G 10: 38,906,486 (GRCm39) I284S probably benign Het
Madd C A 2: 90,992,886 (GRCm39) G1011V probably damaging Het
Mroh2b T C 15: 4,980,693 (GRCm39) F1421L probably damaging Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nedd9 C A 13: 41,470,431 (GRCm39) D241Y probably damaging Het
Notch2 T C 3: 98,007,552 (GRCm39) V434A probably benign Het
Ofcc1 C T 13: 40,433,781 (GRCm39) R108Q probably benign Het
Or10al2 T C 17: 37,983,708 (GRCm39) Y265H probably damaging Het
Or51g1 A G 7: 102,633,721 (GRCm39) F217L probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pramel41 T C 5: 94,594,902 (GRCm39) V254A probably benign Het
Prss55 A G 14: 64,313,132 (GRCm39) Y251H probably damaging Het
Ryr2 T C 13: 11,661,313 (GRCm39) probably null Het
Sec31b A G 19: 44,508,979 (GRCm39) S667P probably benign Het
Smim17 A G 7: 6,427,849 (GRCm39) D45G possibly damaging Het
Sspo A G 6: 48,464,263 (GRCm39) T3906A probably damaging Het
Tanc2 G T 11: 105,787,423 (GRCm39) G908W probably damaging Het
Tcf7l2 A T 19: 55,886,989 (GRCm39) M1L probably benign Het
Tpx2 C T 2: 152,735,514 (GRCm39) A714V probably damaging Het
Trgc4 T A 13: 19,533,740 (GRCm39) S121R Het
Trmt1 G A 8: 85,415,969 (GRCm39) R9H possibly damaging Het
Unc13a A T 8: 72,111,131 (GRCm39) V360E possibly damaging Het
Vmn1r225 T A 17: 20,722,589 (GRCm39) I10N probably damaging Het
Xkr4 A G 1: 3,740,842 (GRCm39) S244P possibly damaging Het
Zkscan14 G T 5: 145,132,708 (GRCm39) H274Q probably damaging 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
IGL02116:Rec8 APN 14 55,862,336 (GRCm39) splice site probably null
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
Z1088:Rec8 UTSW 14 55,862,604 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAACAAGGAGCTGGACTTC -3'
(R):5'- TGAGCTCCAGAGGTTTAATTCCC -3'

Sequencing Primer
(F):5'- TGGACTTCAGCAGCCTGGTG -3'
(R):5'- AATGAACTTGCTCAGGGG -3'
Posted On 2020-09-15