Incidental Mutation 'R1564:Rec8'
ID 175146
Institutional Source Beutler Lab
Gene Symbol Rec8
Ensembl Gene ENSMUSG00000002324
Gene Name REC8 meiotic recombination protein
Synonyms Rec8L1, mrec
MMRRC Submission 039603-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1564 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55855494-55862852 bp(+) (GRCm39)
Type of Mutation splice site (3449 bp from exon)
DNA Base Change (assembly) T to C at 55859732 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 damaging
Transcript: ENSMUST00000002395
AA Change: I204T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: I204T

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 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: ENSMUST00000140335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141425
Predicted Effect probably null
Transcript: ENSMUST00000141499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155193
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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,384,316 (GRCm39) Q3923* probably null Het
Abcc12 T A 8: 87,244,115 (GRCm39) T1013S probably benign Het
Acad9 T C 3: 36,143,578 (GRCm39) I558T possibly damaging Het
Agbl4 C A 4: 110,812,761 (GRCm39) probably null Het
Akr1b1 C T 6: 34,283,470 (GRCm39) probably null Het
Aktip A G 8: 91,857,709 (GRCm39) M1T probably null Het
Apc G T 18: 34,448,202 (GRCm39) Q1665H probably benign Het
Arfgef3 T C 10: 18,467,452 (GRCm39) D1916G probably damaging Het
Arhgef11 T C 3: 87,609,817 (GRCm39) V365A probably benign Het
Bank1 C A 3: 135,919,602 (GRCm39) E265* probably null Het
Bbs7 A T 3: 36,629,944 (GRCm39) D578E probably damaging Het
Bin3 T C 14: 70,372,218 (GRCm39) F172L probably damaging Het
Bves A G 10: 45,245,377 (GRCm39) D350G probably benign Het
Cacna1h A T 17: 25,596,835 (GRCm39) C80* probably null Het
Cacna2d4 T C 6: 119,218,156 (GRCm39) F164L possibly damaging Het
Cenpj T C 14: 56,789,523 (GRCm39) D842G probably benign Het
Col12a1 C A 9: 79,521,122 (GRCm39) R2781L probably damaging Het
Cyp2c68 A T 19: 39,724,024 (GRCm39) C213* probably null Het
Defb33 T A 8: 21,387,597 (GRCm39) C45S possibly damaging Het
Dolk A T 2: 30,175,633 (GRCm39) N137K probably damaging Het
Fam171b G A 2: 83,710,628 (GRCm39) E767K probably damaging Het
Fbxl20 A T 11: 97,989,312 (GRCm39) D189E probably damaging Het
Gm10643 A T 8: 84,791,111 (GRCm39) M1K probably null Het
Gm572 T G 4: 148,735,643 (GRCm39) I24S possibly damaging Het
Gnpda1 A G 18: 38,471,142 (GRCm39) probably null Het
Gpr141b T C 13: 19,913,470 (GRCm39) noncoding transcript Het
Helz2 G T 2: 180,875,021 (GRCm39) N1824K probably benign Het
Insl3 G T 8: 72,142,935 (GRCm39) A99S possibly damaging Het
Lpin2 G A 17: 71,532,055 (GRCm39) V137I probably benign Het
Lrrc9 A G 12: 72,533,827 (GRCm39) E1032G probably damaging Het
Macf1 T C 4: 123,353,150 (GRCm39) T1510A probably benign Het
Mnd1 T C 3: 84,023,738 (GRCm39) E116G probably benign Het
Mycbp2 A G 14: 103,407,287 (GRCm39) probably null Het
Myoz3 G A 18: 60,713,914 (GRCm39) S23L probably benign Het
Napsa G T 7: 44,236,073 (GRCm39) V371F probably damaging Het
Nefh T C 11: 4,889,878 (GRCm39) T914A unknown Het
Neurod2 A T 11: 98,218,250 (GRCm39) C305S probably damaging Het
Nmnat3 T C 9: 98,236,219 (GRCm39) probably null Het
Nuf2 A G 1: 169,326,362 (GRCm39) V463A unknown Het
Olfml1 A T 7: 107,170,346 (GRCm39) T78S possibly damaging Het
Opcml G A 9: 28,814,612 (GRCm39) C288Y probably damaging Het
Oprl1 T C 2: 181,360,733 (GRCm39) I222T possibly damaging Het
Or13a28 G A 7: 140,217,967 (GRCm39) V118I probably benign Het
Or4c104 A T 2: 88,587,000 (GRCm39) N6K possibly damaging Het
Or4c122 G T 2: 89,080,016 (GRCm39) N7K probably benign Het
Or6c210 T C 10: 129,495,884 (GRCm39) F70L probably benign Het
Pcsk5 A G 19: 17,632,120 (GRCm39) Y349H probably damaging Het
Pla2g4d C A 2: 120,099,384 (GRCm39) R706L possibly damaging Het
Pmm1 A G 15: 81,840,401 (GRCm39) Y55H probably damaging Het
Polb A G 8: 23,120,357 (GRCm39) probably null Het
Pom121l2 T C 13: 22,167,523 (GRCm39) I598T possibly damaging Het
Pxmp2 C T 5: 110,429,062 (GRCm39) probably null Het
Rbm39 G T 2: 155,996,177 (GRCm39) L403I probably benign Het
Reck T C 4: 43,912,061 (GRCm39) I190T probably benign Het
Rer1 A T 4: 155,160,050 (GRCm39) I166N probably damaging Het
Rgs17 T A 10: 5,792,567 (GRCm39) K60* probably null Het
Ripor2 C T 13: 24,859,768 (GRCm39) T152M probably damaging Het
Scgb1b2 A T 7: 30,991,200 (GRCm39) probably benign Het
Scn3a C A 2: 65,344,979 (GRCm39) R503M probably damaging Het
Scn4a C A 11: 106,236,367 (GRCm39) D298Y probably benign Het
Scn9a A G 2: 66,314,648 (GRCm39) F1679S probably damaging Het
Scyl3 G T 1: 163,767,553 (GRCm39) probably null Het
Sec23ip A G 7: 128,368,005 (GRCm39) probably null Het
She C T 3: 89,756,921 (GRCm39) A325V possibly damaging Het
Skint2 T G 4: 112,483,195 (GRCm39) M200R probably damaging Het
Slc17a5 A T 9: 78,485,981 (GRCm39) C35S probably damaging Het
Slc25a24 T A 3: 109,070,819 (GRCm39) S393T probably damaging Het
Slc6a19 C T 13: 73,834,243 (GRCm39) V320M probably damaging Het
Snap91 T C 9: 86,674,249 (GRCm39) D579G possibly damaging Het
Spats2l C T 1: 57,985,383 (GRCm39) R479C probably damaging Het
Syngr3 G C 17: 24,905,642 (GRCm39) probably null Het
Tas2r107 A C 6: 131,636,785 (GRCm39) I88R probably damaging Het
Them7 A T 2: 105,128,259 (GRCm39) N80I probably damaging Het
Tmprss7 C T 16: 45,482,516 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,369 (GRCm39) N624D possibly damaging Het
Trpm2 T G 10: 77,778,833 (GRCm39) I378L probably benign Het
Ttn C A 2: 76,554,876 (GRCm39) W30676L probably damaging Het
Ttn A G 2: 76,774,384 (GRCm39) V2220A unknown Het
Uba6 T C 5: 86,302,266 (GRCm39) T134A probably benign Het
Vmn2r55 A G 7: 12,418,678 (GRCm39) S81P probably damaging Het
Zfp616 T A 11: 73,975,548 (GRCm39) S606T probably damaging Het
Zfp653 C A 9: 21,967,155 (GRCm39) A577S 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
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
Predicted Primers PCR Primer
(F):5'- TTGCCTGGCTCTTAGGCTCCAAAG -3'
(R):5'- ACCATCCAGTGGTAGTGAAGCTCTC -3'

Sequencing Primer
(F):5'- AAAGTCCATGTTTTTGCCCCAAC -3'
(R):5'- ACGTTCCTCTAGCAAGATGG -3'
Posted On 2014-04-24