Incidental Mutation 'R8671:Rcbtb1'
ID 661177
Institutional Source Beutler Lab
Gene Symbol Rcbtb1
Ensembl Gene ENSMUSG00000035469
Gene Name regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
Synonyms 5430409I18Rik
MMRRC Submission 068526-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R8671 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 59438658-59474714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59467973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 480 (V480G)
Ref Sequence ENSEMBL: ENSMUSP00000022551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022551] [ENSMUST00000043227] [ENSMUST00000172810] [ENSMUST00000174009]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022551
AA Change: V480G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: V480G

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: V480G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: V480G

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 probably benign
Transcript: ENSMUST00000172810
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik C T 4: 73,861,166 (GRCm39) E145K probably damaging Het
Ambp A T 4: 63,068,656 (GRCm39) Y120* probably null Het
Ankrd36 C T 11: 5,579,312 (GRCm39) A192V probably benign Het
Apol7e A T 15: 77,601,803 (GRCm39) M134L probably benign Het
Atg9b A T 5: 24,591,107 (GRCm39) N774K probably benign Het
Catsperb T A 12: 101,560,596 (GRCm39) N862K possibly damaging Het
Ccdc7a T A 8: 129,646,948 (GRCm39) D648V probably damaging Het
Cfap54 G T 10: 92,790,934 (GRCm39) P1855T unknown Het
Clcnkb T A 4: 141,139,541 (GRCm39) T154S probably damaging Het
Cux1 C T 5: 136,279,454 (GRCm39) R609H probably damaging Het
Eif2ak4 A G 2: 118,252,667 (GRCm39) D413G possibly damaging Het
Elp1 A G 4: 56,771,453 (GRCm39) L948P probably damaging Het
Flnc T C 6: 29,443,501 (GRCm39) probably null Het
Grm5 T C 7: 87,765,498 (GRCm39) probably null Het
Hectd3 T G 4: 116,853,778 (GRCm39) F225V possibly damaging Het
Hpcal4 G T 4: 123,082,976 (GRCm39) M107I probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Larp4 C A 15: 99,908,339 (GRCm39) Q607K probably benign Het
Marchf8 A G 6: 116,378,815 (GRCm39) R250G probably benign Het
Med13 A C 11: 86,161,923 (GRCm39) N2135K probably damaging Het
Msh5 T A 17: 35,264,909 (GRCm39) R89* probably null Het
Musk T G 4: 58,286,051 (GRCm39) probably benign Het
Myo18b T C 5: 113,022,609 (GRCm39) Q261R unknown Het
Npr1 A T 3: 90,363,464 (GRCm39) probably benign Het
Nynrin T A 14: 56,107,899 (GRCm39) V1002E possibly damaging Het
Or2l5 T C 16: 19,333,804 (GRCm39) Y194C possibly damaging Het
Or4c103 A T 2: 88,513,449 (GRCm39) F209Y probably benign Het
Or4f14c T A 2: 111,941,333 (GRCm39) K88M probably damaging Het
Or5w15 A T 2: 87,567,990 (GRCm39) L226Q probably damaging Het
Pcare G T 17: 72,058,372 (GRCm39) A435E probably benign Het
Pcdh9 T C 14: 94,126,086 (GRCm39) Y28C probably damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Potefam1 T C 2: 111,059,877 (GRCm39) probably benign Het
Potefam3e T A 8: 19,784,775 (GRCm39) L203* probably null Het
Prkd1 T A 12: 50,435,191 (GRCm39) N512I probably benign Het
Pwwp2b C T 7: 138,836,326 (GRCm39) P589L probably damaging Het
Rasgrp4 G A 7: 28,842,452 (GRCm39) G242D probably damaging Het
Rptn A G 3: 93,305,501 (GRCm39) S945G probably benign Het
Slc22a2 C T 17: 12,824,863 (GRCm39) Q242* probably null Het
Slfn3 T A 11: 83,103,825 (GRCm39) V232E probably benign Het
Stab1 T A 14: 30,879,365 (GRCm39) K705M probably damaging Het
Syn2 C A 6: 115,255,128 (GRCm39) S480* probably null Het
Thsd4 A T 9: 60,301,728 (GRCm39) L189H probably damaging Het
Tinagl1 T C 4: 130,061,597 (GRCm39) T250A probably benign Het
Tnc A T 4: 63,935,683 (GRCm39) C418S probably damaging Het
Ube2q1 A G 3: 89,683,385 (GRCm39) E110G probably damaging Het
Wdfy4 G T 14: 32,693,722 (GRCm39) probably benign Het
Xcl1 T C 1: 164,759,419 (GRCm39) M94V probably benign Het
Zfp369 T C 13: 65,444,095 (GRCm39) S413P possibly damaging Het
Zfp454 A C 11: 50,764,595 (GRCm39) I279S possibly damaging Het
Zfp971 A C 2: 177,675,730 (GRCm39) Q443P probably damaging Het
Other mutations in Rcbtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Rcbtb1 APN 14 59,465,754 (GRCm39) missense probably benign 0.19
IGL01954:Rcbtb1 APN 14 59,467,416 (GRCm39) missense probably damaging 1.00
IGL02458:Rcbtb1 APN 14 59,467,443 (GRCm39) missense probably damaging 1.00
IGL02632:Rcbtb1 APN 14 59,462,131 (GRCm39) missense probably damaging 0.99
IGL02689:Rcbtb1 APN 14 59,462,149 (GRCm39) missense probably damaging 1.00
IGL03201:Rcbtb1 APN 14 59,460,727 (GRCm39) missense probably damaging 1.00
IGL03411:Rcbtb1 APN 14 59,447,419 (GRCm39) start codon destroyed probably null 1.00
R0014:Rcbtb1 UTSW 14 59,472,691 (GRCm39) missense probably benign 0.35
R2858:Rcbtb1 UTSW 14 59,458,861 (GRCm39) splice site probably null
R2877:Rcbtb1 UTSW 14 59,448,041 (GRCm39) splice site probably benign
R3890:Rcbtb1 UTSW 14 59,465,804 (GRCm39) missense possibly damaging 0.67
R3892:Rcbtb1 UTSW 14 59,465,804 (GRCm39) missense possibly damaging 0.67
R3945:Rcbtb1 UTSW 14 59,462,225 (GRCm39) critical splice donor site probably null
R6869:Rcbtb1 UTSW 14 59,455,051 (GRCm39) missense probably benign 0.01
R7224:Rcbtb1 UTSW 14 59,465,828 (GRCm39) missense probably damaging 1.00
R7910:Rcbtb1 UTSW 14 59,474,127 (GRCm39) missense unknown
R7962:Rcbtb1 UTSW 14 59,459,016 (GRCm39) missense probably benign 0.11
R8532:Rcbtb1 UTSW 14 59,447,973 (GRCm39) nonsense probably null
R8676:Rcbtb1 UTSW 14 59,467,401 (GRCm39) missense possibly damaging 0.50
R9066:Rcbtb1 UTSW 14 59,462,206 (GRCm39) missense possibly damaging 0.50
R9310:Rcbtb1 UTSW 14 59,472,699 (GRCm39) missense probably benign 0.05
R9780:Rcbtb1 UTSW 14 59,465,796 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCTGCTGGCCATGAAATGC -3'
(R):5'- CAGTTCCTTAGAAGCAAAGCAGAC -3'

Sequencing Primer
(F):5'- CCATGAAATGCCCGTGTTGTCAG -3'
(R):5'- GCAGACAAACAATGATTCTGACTGTG -3'
Posted On 2021-03-08