Incidental Mutation 'R7538:Rcor1'
ID 585966
Institutional Source Beutler Lab
Gene Symbol Rcor1
Ensembl Gene ENSMUSG00000037896
Gene Name REST corepressor 1
Synonyms D12Wsu95e, Rocr1, 6720480E22Rik
MMRRC Submission 045610-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7538 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 111005801-111082336 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 111034271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084968] [ENSMUST00000116388]
AlphaFold Q8CFE3
Predicted Effect probably null
Transcript: ENSMUST00000084968
SMART Domains Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896

DomainStartEndE-ValueType
low complexity region 21 58 N/A INTRINSIC
low complexity region 66 98 N/A INTRINSIC
ELM2 99 154 1.12e-14 SMART
SANT 185 233 4.49e-7 SMART
low complexity region 250 260 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
SANT 376 424 2.52e-10 SMART
low complexity region 453 465 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000116388
SMART Domains Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896

DomainStartEndE-ValueType
ELM2 1 56 1.12e-14 SMART
SANT 87 135 4.49e-7 SMART
low complexity region 152 162 N/A INTRINSIC
coiled coil region 230 265 N/A INTRINSIC
SANT 278 326 2.52e-10 SMART
low complexity region 355 367 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit partial embryonic lethality, defective embryonic erythropoiesis, and decreased erythroid progenitor cell number. No homozygotes survive to P7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 C A 9: 30,864,766 (GRCm39) P419H probably damaging Het
Adgra3 C T 5: 50,118,792 (GRCm39) V919I probably benign Het
Akap12 G A 10: 4,303,213 (GRCm39) V113I probably damaging Het
Akr1d1 T A 6: 37,513,043 (GRCm39) I113K probably benign Het
Alx3 A T 3: 107,511,680 (GRCm39) I230F probably damaging Het
Apob A T 12: 8,052,219 (GRCm39) D1220V probably damaging Het
Ascc3 T C 10: 50,721,796 (GRCm39) L2083P probably damaging Het
Atp10b A G 11: 43,116,373 (GRCm39) I907V probably benign Het
B4galnt3 G T 6: 120,271,384 (GRCm39) S46* probably null Het
Bfsp1 A C 2: 143,673,755 (GRCm39) probably null Het
Cant1 G A 11: 118,302,291 (GRCm39) R9W possibly damaging Het
Ccdc88a A T 11: 29,413,370 (GRCm39) H636L probably benign Het
Cfi G A 3: 129,652,464 (GRCm39) R297H probably benign Het
Cherp T A 8: 73,216,263 (GRCm39) Q749L Het
Clec10a A G 11: 70,060,604 (GRCm39) D153G probably benign Het
Cnga1 T C 5: 72,769,723 (GRCm39) K99E probably benign Het
Cyp2r1 A T 7: 114,162,002 (GRCm39) V64D probably damaging Het
Dact3 T A 7: 16,609,443 (GRCm39) W32R probably damaging Het
Dennd4c T C 4: 86,692,753 (GRCm39) C88R probably damaging Het
Dock8 A T 19: 25,135,782 (GRCm39) D1200V probably damaging Het
Drosha C G 15: 12,926,329 (GRCm39) S1262W probably damaging Het
Dtnb T C 12: 3,823,611 (GRCm39) M592T possibly damaging Het
Eef2k T A 7: 120,491,215 (GRCm39) V567E probably benign Het
Fem1b A G 9: 62,718,449 (GRCm39) S47P probably damaging Het
Fryl T C 5: 73,180,019 (GRCm39) E2864G probably benign Het
Fscn2 A G 11: 120,258,152 (GRCm39) N358S possibly damaging Het
Fsip2 T C 2: 82,818,894 (GRCm39) S4876P possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Grhl2 T C 15: 37,328,603 (GRCm39) Y410H probably damaging Het
Gucy2c C T 6: 136,686,742 (GRCm39) G831D probably damaging Het
Hars1 A T 18: 36,904,194 (GRCm39) D228E probably benign Het
Hdhd5 T C 6: 120,498,257 (GRCm39) D114G possibly damaging Het
Kcna2 A G 3: 107,011,884 (GRCm39) Y155C probably benign Het
Klc1 A G 12: 111,751,879 (GRCm39) K441R probably benign Het
Kmt2a A G 9: 44,759,041 (GRCm39) L936P probably damaging Het
Map3k6 T C 4: 132,979,238 (GRCm39) V1197A probably benign Het
Mthfsd C T 8: 121,825,525 (GRCm39) A349T probably benign Het
Mtmr7 G A 8: 41,050,427 (GRCm39) R123W probably damaging Het
Muc16 G A 9: 18,566,747 (GRCm39) T1924I unknown Het
Muc16 T A 9: 18,553,427 (GRCm39) I4289F probably benign Het
Mybpc3 A C 2: 90,950,832 (GRCm39) D220A probably damaging Het
Neb A T 2: 52,146,587 (GRCm39) probably null Het
Nectin2 A G 7: 19,464,544 (GRCm39) W287R probably damaging Het
Nipsnap1 A T 11: 4,834,089 (GRCm39) T114S probably damaging Het
Nol9 T C 4: 152,124,115 (GRCm39) S102P probably benign Het
Olfml2b A T 1: 170,477,402 (GRCm39) K179I possibly damaging Het
Or4a80 G T 2: 89,582,665 (GRCm39) P169H probably damaging Het
Pcnt T C 10: 76,235,773 (GRCm39) M1403V probably benign Het
Phf7 T C 14: 30,960,386 (GRCm39) D284G probably benign Het
Pias3 A G 3: 96,609,534 (GRCm39) T319A possibly damaging Het
Pik3ip1 A T 11: 3,283,558 (GRCm39) I189F probably damaging Het
Pik3r1 T A 13: 101,825,914 (GRCm39) T371S probably damaging Het
Prmt7 A G 8: 106,964,018 (GRCm39) D304G probably benign Het
Prpf6 T C 2: 181,294,248 (GRCm39) V818A probably benign Het
Pstpip2 A G 18: 77,959,305 (GRCm39) E185G probably damaging Het
Ptprz1 T G 6: 22,999,895 (GRCm39) F662V possibly damaging Het
Rasgrp3 T C 17: 75,803,411 (GRCm39) F70L probably benign Het
Rnasel A G 1: 153,630,306 (GRCm39) K274R probably benign Het
Rsbn1l G A 5: 21,101,455 (GRCm39) T695I probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sema3a T C 5: 13,611,787 (GRCm39) V351A probably benign Het
Serpina12 A G 12: 104,004,587 (GRCm39) L15P unknown Het
Siah1a G A 8: 87,451,840 (GRCm39) R215C probably benign Het
Sin3a T A 9: 57,011,210 (GRCm39) V489D possibly damaging Het
Slc22a17 A G 14: 55,149,575 (GRCm39) I208T probably benign Het
Slc36a4 G A 9: 15,645,511 (GRCm39) V313M possibly damaging Het
Sod1 T A 16: 90,023,114 (GRCm39) L145* probably null Het
Svep1 T C 4: 58,053,260 (GRCm39) N3362D possibly damaging Het
Taf4b T C 18: 14,946,602 (GRCm39) L475P probably damaging Het
Telo2 G T 17: 25,329,795 (GRCm39) T239K probably benign Het
Trmt11 T G 10: 30,436,870 (GRCm39) D290A probably damaging Het
Trpc4 A T 3: 54,225,516 (GRCm39) D955V possibly damaging Het
Trpv6 T C 6: 41,603,101 (GRCm39) N257S probably benign Het
Usp12 T C 5: 146,731,430 (GRCm39) T15A probably benign Het
Vars2 G T 17: 35,971,672 (GRCm39) Q526K probably damaging Het
Vipas39 A G 12: 87,310,677 (GRCm39) probably null Het
Zfp689 A T 7: 127,044,010 (GRCm39) C207S probably damaging Het
Zfpl1 C A 19: 6,134,432 (GRCm39) E18* probably null Het
Other mutations in Rcor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Rcor1 APN 12 111,070,193 (GRCm39) missense possibly damaging 0.92
R0103:Rcor1 UTSW 12 111,076,212 (GRCm39) splice site probably benign
R0103:Rcor1 UTSW 12 111,076,212 (GRCm39) splice site probably benign
R0504:Rcor1 UTSW 12 111,068,102 (GRCm39) missense probably benign 0.03
R1506:Rcor1 UTSW 12 111,076,271 (GRCm39) missense probably damaging 1.00
R1540:Rcor1 UTSW 12 111,070,037 (GRCm39) splice site probably benign
R2356:Rcor1 UTSW 12 111,076,226 (GRCm39) missense probably damaging 0.99
R3882:Rcor1 UTSW 12 111,070,187 (GRCm39) missense probably damaging 1.00
R3952:Rcor1 UTSW 12 111,006,169 (GRCm39) unclassified probably benign
R4881:Rcor1 UTSW 12 111,063,986 (GRCm39) missense probably damaging 1.00
R5718:Rcor1 UTSW 12 111,068,069 (GRCm39) missense probably benign 0.13
R6250:Rcor1 UTSW 12 111,078,311 (GRCm39) missense probably benign 0.00
R6798:Rcor1 UTSW 12 111,006,320 (GRCm39) splice site probably benign
R6901:Rcor1 UTSW 12 111,075,322 (GRCm39) missense probably damaging 0.97
R7761:Rcor1 UTSW 12 111,076,297 (GRCm39) missense
R8334:Rcor1 UTSW 12 111,059,529 (GRCm39) missense
R9016:Rcor1 UTSW 12 111,047,933 (GRCm39) intron probably benign
R9236:Rcor1 UTSW 12 111,070,080 (GRCm39) missense
R9242:Rcor1 UTSW 12 111,076,228 (GRCm39) nonsense probably null
R9263:Rcor1 UTSW 12 111,078,327 (GRCm39) missense
R9310:Rcor1 UTSW 12 111,066,393 (GRCm39) missense
X0027:Rcor1 UTSW 12 111,006,435 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGACCCTTCCCAAACTTTG -3'
(R):5'- TGAGAGTGATGATGCCAGC -3'

Sequencing Primer
(F):5'- CTGTGGGCTGTAGATGAAAA -3'
(R):5'- CGAGGAGACCTTGAGCTCTGAC -3'
Posted On 2019-10-18