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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |