Incidental Mutation 'IGL02689:Rcbtb1'
ID303665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcbtb1
Ensembl Gene ENSMUSG00000035469
Gene Nameregulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL02689
Quality Score
Status
Chromosome14
Chromosomal Location59201209-59237265 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59224700 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 260 (N260S)
Ref Sequence ENSEMBL: ENSMUSP00000037030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022551] [ENSMUST00000043227] [ENSMUST00000172810] [ENSMUST00000173547] [ENSMUST00000174009]
Predicted Effect probably damaging
Transcript: ENSMUST00000022551
AA Change: N260S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: N260S

DomainStartEndE-ValueType
Pfam:RCC1 40 89 3.9e-8 PFAM
Pfam:RCC1 93 143 2e-13 PFAM
Pfam:RCC1_2 130 159 5.7e-12 PFAM
Pfam:RCC1 146 196 2.2e-13 PFAM
Pfam:RCC1_2 183 212 3.2e-8 PFAM
Pfam:RCC1 199 248 5.3e-17 PFAM
Pfam:RCC1_2 235 264 2.2e-11 PFAM
Pfam:RCC1 251 300 2.3e-15 PFAM
BTB 370 467 4.14e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043227
AA Change: N260S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: N260S

DomainStartEndE-ValueType
Pfam:RCC1 40 88 3.2e-7 PFAM
Pfam:RCC1 93 143 2.6e-13 PFAM
Pfam:RCC1_2 130 159 3.7e-12 PFAM
Pfam:RCC1 146 196 3.8e-14 PFAM
Pfam:RCC1_2 183 212 6.5e-8 PFAM
Pfam:RCC1 199 248 1.3e-16 PFAM
Pfam:RCC1_2 235 264 3.5e-10 PFAM
Pfam:RCC1 251 300 1.2e-13 PFAM
BTB 370 467 4.14e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000095778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153225
Predicted Effect probably benign
Transcript: ENSMUST00000172810
Predicted Effect probably benign
Transcript: ENSMUST00000173547
SMART Domains Protein: ENSMUSP00000134360
Gene: ENSMUSG00000035469

DomainStartEndE-ValueType
Pfam:RCC1 40 89 9.6e-9 PFAM
Pfam:RCC1 93 143 4.7e-14 PFAM
Pfam:RCC1_2 130 159 1.7e-12 PFAM
Pfam:RCC1 146 196 5.3e-14 PFAM
Pfam:RCC1_2 183 208 7.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174009
Predicted Effect probably benign
Transcript: ENSMUST00000174830
SMART Domains Protein: ENSMUSP00000133421
Gene: ENSMUSG00000035469

DomainStartEndE-ValueType
Pfam:RCC1 1 48 2e-12 PFAM
Pfam:RCC1_2 33 64 4.8e-13 PFAM
Pfam:RCC1 51 93 7.8e-13 PFAM
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 with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 G T 4: 86,917,455 A235S probably benign Het
Add2 A G 6: 86,107,406 I479V possibly damaging Het
Anapc11 T A 11: 120,599,342 M28K probably benign Het
Anapc15-ps T C 10: 95,673,131 S87G probably benign Het
Atraid T C 5: 31,052,482 L46P probably damaging Het
Ccdc80 T A 16: 45,096,409 Y509* probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cecr2 T A 6: 120,762,167 L1257Q probably damaging Het
Csn1s2b A G 5: 87,809,921 I5V probably benign Het
Dhps T C 8: 85,073,750 Y221H possibly damaging Het
Dmxl1 T C 18: 49,864,895 S717P probably damaging Het
Dppa5a G T 9: 78,367,831 S63Y probably damaging Het
Eif3l A T 15: 79,086,519 D331V possibly damaging Het
Folh1 G T 7: 86,763,045 probably null Het
Gbp9 G T 5: 105,105,796 Q18K probably benign Het
Grm5 A G 7: 87,602,710 K56R probably damaging Het
H2-M3 T A 17: 37,270,541 Y31* probably null Het
Herc2 T C 7: 56,165,283 probably benign Het
Itga7 G T 10: 128,946,818 A675S possibly damaging Het
Lipo5 G A 19: 33,467,786 H128Y unknown Het
Olfr1344 T C 7: 6,440,575 L225P possibly damaging Het
Olfr1480 A G 19: 13,529,807 I89V probably benign Het
Pdk4 C T 6: 5,487,408 V281I probably benign Het
Pkn3 G A 2: 30,080,846 G202D probably damaging Het
Sipa1l1 T C 12: 82,440,820 F1623L probably benign Het
Slfn8 A G 11: 83,017,108 F203S probably damaging Het
St6gal2 T C 17: 55,482,595 L210S probably damaging Het
Taf5 T C 19: 47,077,265 probably benign Het
Taok2 A G 7: 126,876,098 F226S probably damaging Het
Timm10b A G 7: 105,640,632 probably benign Het
Tmx3 A G 18: 90,537,116 N319S possibly damaging Het
Trmt1 G T 8: 84,699,756 probably benign Het
Other mutations in Rcbtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Rcbtb1 APN 14 59228305 missense probably benign 0.19
IGL01954:Rcbtb1 APN 14 59229967 missense probably damaging 1.00
IGL02458:Rcbtb1 APN 14 59229994 missense probably damaging 1.00
IGL02632:Rcbtb1 APN 14 59224682 missense probably damaging 0.99
IGL03201:Rcbtb1 APN 14 59223278 missense probably damaging 1.00
IGL03411:Rcbtb1 APN 14 59209970 start codon destroyed probably null 1.00
R0014:Rcbtb1 UTSW 14 59235242 missense probably benign 0.35
R2858:Rcbtb1 UTSW 14 59221412 splice site probably null
R2877:Rcbtb1 UTSW 14 59210592 splice site probably benign
R3890:Rcbtb1 UTSW 14 59228355 missense possibly damaging 0.67
R3892:Rcbtb1 UTSW 14 59228355 missense possibly damaging 0.67
R3945:Rcbtb1 UTSW 14 59224776 critical splice donor site probably null
R6869:Rcbtb1 UTSW 14 59217602 missense probably benign 0.01
R7224:Rcbtb1 UTSW 14 59228379 missense probably damaging 1.00
Posted On2015-04-16