Incidental Mutation 'R3952:Rcor1'
ID 308008
Institutional Source Beutler Lab
Gene Symbol Rcor1
Ensembl Gene ENSMUSG00000037896
Gene Name REST corepressor 1
Synonyms D12Wsu95e, Rocr1, 6720480E22Rik
MMRRC Submission 040829-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3952 (G1)
Quality Score 129
Status Not validated
Chromosome 12
Chromosomal Location 111005801-111082336 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 111006169 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 unknown
Transcript: ENSMUST00000084968
AA Change: T44A
SMART Domains Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: T44A

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 benign
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (46/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,451,158 (GRCm39) probably benign Het
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Abi3bp C T 16: 56,424,401 (GRCm39) T450I possibly damaging Het
Abl1 A T 2: 31,674,549 (GRCm39) T213S probably damaging Het
Apc2 C T 10: 80,150,318 (GRCm39) R1762W probably damaging Het
Arl2 G T 19: 6,184,707 (GRCm39) T182N probably benign Het
Brd8 C G 18: 34,747,497 (GRCm39) probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Clca3a2 A G 3: 144,508,822 (GRCm39) Y666H probably damaging Het
Cmya5 A G 13: 93,225,707 (GRCm39) V3127A possibly damaging Het
Copg1 G A 6: 87,882,198 (GRCm39) A598T probably benign Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Epha1 C A 6: 42,341,219 (GRCm39) L535F probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fads2b T C 2: 85,330,548 (GRCm39) probably benign Het
Ggcx G A 6: 72,403,541 (GRCm39) G363R probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kpna1 A T 16: 35,823,252 (GRCm39) T35S probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mgat4a A G 1: 37,489,495 (GRCm39) probably benign Het
Mrpl48 T A 7: 100,209,130 (GRCm39) probably benign Het
Ncapd2 T C 6: 125,163,747 (GRCm39) K78E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Or10a3n C A 7: 108,493,189 (GRCm39) V142L probably benign Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Or6c69 A G 10: 129,747,505 (GRCm39) I214T probably benign Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pla2g6 G T 15: 79,197,296 (GRCm39) P93T probably damaging Het
Pramel28 C T 4: 143,692,356 (GRCm39) W215* probably null Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sytl2 T A 7: 90,030,700 (GRCm39) probably benign Het
Tia1 T C 6: 86,393,319 (GRCm39) F53S probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmod1 A G 4: 46,078,315 (GRCm39) N41S probably damaging Het
Ttn T C 2: 76,583,139 (GRCm39) I22585V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Vps39 C T 2: 120,180,656 (GRCm39) R43Q probably benign Het
Vwa5b2 T C 16: 20,417,111 (GRCm39) *603Q probably null Het
Zeb1 G A 18: 5,772,716 (GRCm39) A1002T probably benign Het
Zxdc A G 6: 90,347,449 (GRCm39) 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
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
R7538:Rcor1 UTSW 12 111,034,271 (GRCm39) splice site probably null
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'- TGAGAGCCAAAGTTGCGCTC -3'
(R):5'- GCTACTCACCAGGATCGAAG -3'

Sequencing Primer
(F):5'- AAAGTTGCGCTCCGTTCG -3'
(R):5'- TCACCAGGATCGAAGTCGGG -3'
Posted On 2015-04-17