Incidental Mutation 'R9066:Rcbtb1'
ID 689283
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 068891-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R9066 (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 59462206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 279 (I279S)
Ref Sequence ENSEMBL: ENSMUSP00000022551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022551] [ENSMUST00000043227] [ENSMUST00000172810] [ENSMUST00000173547] [ENSMUST00000174009]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022551
AA Change: I279S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: I279S

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 possibly damaging
Transcript: ENSMUST00000043227
AA Change: I279S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: I279S

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: 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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (46/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,849,188 (GRCm39) T1858A probably damaging Het
Atp1a1 A G 3: 101,489,338 (GRCm39) I758T probably damaging Het
Atp2c1 T C 9: 105,330,845 (GRCm39) E225G probably damaging Het
Clec7a A C 6: 129,444,491 (GRCm39) S115A probably benign Het
Cnbd1 T C 4: 19,098,181 (GRCm39) T80A probably benign Het
Ctu1 A G 7: 43,326,019 (GRCm39) H226R possibly damaging Het
Dctn4 T C 18: 60,659,387 (GRCm39) F29L probably damaging Het
Dnajb2 A G 1: 75,217,874 (GRCm39) T169A Het
Efcab3 T A 11: 104,631,688 (GRCm39) probably benign Het
Esf1 A T 2: 139,990,693 (GRCm39) M597K probably benign Het
Fzd7 C T 1: 59,521,991 (GRCm39) probably benign Het
Gapvd1 C A 2: 34,617,297 (GRCm39) Q349H probably damaging Het
Garin5b T C 7: 4,773,518 (GRCm39) probably benign Het
Gata5 A G 2: 179,968,761 (GRCm39) F371S Het
Gm572 A T 4: 148,751,278 (GRCm39) Q217L possibly damaging Het
Igkv14-130 T A 6: 67,768,219 (GRCm39) M26K probably damaging Het
Jchain T G 5: 88,675,638 (GRCm39) M1L probably benign Het
Kcnj14 G A 7: 45,469,073 (GRCm39) T144M probably damaging Het
Kirrel2 C A 7: 30,153,454 (GRCm39) A302S probably damaging Het
Klhl29 C T 12: 5,260,114 (GRCm39) V35I probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lgi4 A C 7: 30,759,446 (GRCm39) M1L probably benign Het
Ncr1 A G 7: 4,347,552 (GRCm39) D276G probably benign Het
Nfatc3 T A 8: 106,825,782 (GRCm39) M619K probably benign Het
Nudcd1 A T 15: 44,243,588 (GRCm39) F441I probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or10a3n A T 7: 108,493,253 (GRCm39) Y125* probably null Het
Or8b12 T G 9: 37,657,871 (GRCm39) V147G possibly damaging Het
Pop1 A T 15: 34,516,060 (GRCm39) Q586L possibly damaging Het
Prss3b C T 6: 41,008,640 (GRCm39) G225R probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Serpine3 A G 14: 62,929,555 (GRCm39) D401G probably damaging Het
Slc25a4 A G 8: 46,662,115 (GRCm39) V181A probably damaging Het
Slc26a2 T G 18: 61,335,130 (GRCm39) I108L probably benign Het
Slc27a5 A C 7: 12,722,530 (GRCm39) V648G possibly damaging Het
Slc2a7 T C 4: 150,250,872 (GRCm39) F431S probably damaging Het
Sox11 T C 12: 27,391,422 (GRCm39) H329R possibly damaging Het
Speg G A 1: 75,361,654 (GRCm39) G223R probably damaging Het
Synpo2 G A 3: 122,911,133 (GRCm39) H171Y possibly damaging Het
Tle6 G T 10: 81,430,212 (GRCm39) N323K possibly damaging Het
Ugt3a1 A T 15: 9,367,384 (GRCm39) M376L possibly damaging Het
Unc13d T C 11: 115,957,561 (GRCm39) K798R probably benign Het
Vasp A T 7: 18,998,433 (GRCm39) H80Q probably damaging Het
Vmn2r28 T C 7: 5,491,596 (GRCm39) D217G probably damaging Het
Vps41 T C 13: 19,008,018 (GRCm39) S284P probably damaging Het
Zer1 A C 2: 30,000,686 (GRCm39) L245R probably damaging Het
Zfp516 G T 18: 82,973,964 (GRCm39) R54L probably damaging Het
Zfp868 T C 8: 70,064,292 (GRCm39) K348E 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
R8671:Rcbtb1 UTSW 14 59,467,973 (GRCm39) missense probably damaging 0.97
R8676:Rcbtb1 UTSW 14 59,467,401 (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'- TGGGCTAACAGTTGGTTGCC -3'
(R):5'- CTACAAATCACAAGTGGGTGCC -3'

Sequencing Primer
(F):5'- AACAGTTGGTTGCCCTGCC -3'
(R):5'- TCACAAGTGGGTGCCTCAGAAG -3'
Posted On 2021-11-19