Incidental Mutation 'IGL01869:Rcor1'
ID178647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcor1
Ensembl Gene ENSMUSG00000037896
Gene NameREST corepressor 1
Synonyms6720480E22Rik, D12Wsu95e, Rocr1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01869
Quality Score
Status
Chromosome12
Chromosomal Location111039351-111115901 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 111103759 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 330 (T330K)
Ref Sequence ENSEMBL: ENSMUSP00000082034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084968] [ENSMUST00000116388]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084968
AA Change: T330K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: T330K

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 possibly damaging
Transcript: ENSMUST00000116388
AA Change: T232K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896
AA Change: T232K

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
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,043,045 noncoding transcript Het
Adam29 T C 8: 55,871,697 H574R probably damaging Het
Arap1 C A 7: 101,400,283 T984K probably damaging Het
Ccdc146 A T 5: 21,316,839 S396T probably benign Het
Col6a3 T C 1: 90,773,048 K2587E unknown Het
Cyp3a44 A G 5: 145,790,686 S278P probably damaging Het
Daw1 T G 1: 83,182,244 probably benign Het
Dnah17 T C 11: 118,052,676 K3200R probably benign Het
Efhd2 A G 4: 141,874,602 F89S probably damaging Het
Fras1 A G 5: 96,708,783 probably benign Het
Ggps1 T C 13: 14,054,394 D68G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3604 A T 13: 62,370,140 C134S probably damaging Het
Gpaa1 A G 15: 76,332,998 T178A probably benign Het
Lama3 A G 18: 12,524,763 N312S possibly damaging Het
Npepps T C 11: 97,236,122 I437M probably damaging Het
Olfr1495 A G 19: 13,769,170 D276G probably benign Het
Olfr266 C T 3: 106,822,026 D178N probably benign Het
Sbno2 A G 10: 80,060,392 probably null Het
Sema3g A G 14: 31,223,667 E478G probably damaging Het
Smg9 A G 7: 24,416,524 D280G probably damaging Het
Smtnl1 A T 2: 84,811,397 *460R probably null Het
Syde1 A G 10: 78,588,919 C360R possibly damaging Het
Szt2 A G 4: 118,399,071 V197A possibly damaging Het
Tnrc6c T C 11: 117,755,448 V1405A possibly damaging Het
Ttbk1 A G 17: 46,447,063 S882P probably damaging Het
Tubgcp4 T A 2: 121,175,788 H116Q possibly damaging Het
Vmn1r192 T A 13: 22,187,580 N157Y probably damaging Het
Vmn1r60 C T 7: 5,544,229 V291M probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo5 C T 17: 46,242,207 P1184L possibly damaging Het
Zfp946 T G 17: 22,454,703 I146S probably benign Het
Other mutations in Rcor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0103:Rcor1 UTSW 12 111109778 splice site probably benign
R0103:Rcor1 UTSW 12 111109778 splice site probably benign
R0504:Rcor1 UTSW 12 111101668 missense probably benign 0.03
R1506:Rcor1 UTSW 12 111109837 missense probably damaging 1.00
R1540:Rcor1 UTSW 12 111103603 splice site probably benign
R2356:Rcor1 UTSW 12 111109792 missense probably damaging 0.99
R3882:Rcor1 UTSW 12 111103753 missense probably damaging 1.00
R3952:Rcor1 UTSW 12 111039735 unclassified probably benign
R4881:Rcor1 UTSW 12 111097552 missense probably damaging 1.00
R5718:Rcor1 UTSW 12 111101635 missense probably benign 0.13
R6250:Rcor1 UTSW 12 111111877 missense probably benign 0.00
R6798:Rcor1 UTSW 12 111039886 splice site probably benign
R6901:Rcor1 UTSW 12 111108888 missense probably damaging 0.97
R7538:Rcor1 UTSW 12 111067837 intron probably null
R7761:Rcor1 UTSW 12 111109863 missense
X0027:Rcor1 UTSW 12 111040001 missense probably benign 0.00
Posted On2014-05-07