Incidental Mutation 'IGL00233:Rec8'
ID306843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rec8
Ensembl Gene ENSMUSG00000002324
Gene NameREC8 meiotic recombination protein
Synonymsmrec, Rec8L1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00233
Quality Score
Status
Chromosome14
Chromosomal Location55618037-55625395 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 55623515 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 334 (Q334*)
Ref Sequence ENSEMBL: ENSMUSP00000002395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002395] [ENSMUST00000047131] [ENSMUST00000135221] [ENSMUST00000141499] [ENSMUST00000148351]
Predicted Effect probably null
Transcript: ENSMUST00000002395
AA Change: Q334*
SMART Domains Protein: ENSMUSP00000002395
Gene: ENSMUSG00000002324
AA Change: Q334*

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 noncoding transcript
Transcript: ENSMUST00000126064
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 benign
Transcript: ENSMUST00000141499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146528
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: ENSMUST00000155193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228754
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Rec8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Rec8 APN 14 55618651 missense probably damaging 1.00
IGL02116:Rec8 APN 14 55624879 unclassified probably null
R1349:Rec8 UTSW 14 55618974 missense probably damaging 1.00
R1372:Rec8 UTSW 14 55618974 missense probably damaging 1.00
R1564:Rec8 UTSW 14 55622275 unclassified probably null
R1667:Rec8 UTSW 14 55618796 missense probably damaging 1.00
R1970:Rec8 UTSW 14 55624142 missense probably damaging 1.00
R3157:Rec8 UTSW 14 55625306 missense probably damaging 0.96
R3625:Rec8 UTSW 14 55622497 missense possibly damaging 0.94
R3919:Rec8 UTSW 14 55621259 missense probably benign 0.02
R4280:Rec8 UTSW 14 55618634 missense probably damaging 1.00
R4282:Rec8 UTSW 14 55618634 missense probably damaging 1.00
R4283:Rec8 UTSW 14 55618634 missense probably damaging 1.00
R4622:Rec8 UTSW 14 55624758 missense probably damaging 1.00
R4894:Rec8 UTSW 14 55625330 missense probably damaging 1.00
R5488:Rec8 UTSW 14 55622826 missense probably benign 0.00
R5489:Rec8 UTSW 14 55622826 missense probably benign 0.00
R6113:Rec8 UTSW 14 55622478 missense probably damaging 0.99
R6264:Rec8 UTSW 14 55619179 missense probably damaging 1.00
R6439:Rec8 UTSW 14 55618619 missense possibly damaging 0.50
Z1088:Rec8 UTSW 14 55625147 missense probably damaging 0.96
Posted On2015-04-16