Incidental Mutation 'IGL02689:Rcbtb1'
| ID |
303665 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rcbtb1
|
| Ensembl Gene |
ENSMUSG00000035469 |
| Gene Name |
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 |
| Synonyms |
5430409I18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
IGL02689
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59438658-59474714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59462149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
no structure available at present |
| 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
| 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 |
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
| 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 |
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
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174009
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
G |
T |
4: 86,835,692 (GRCm39) |
A235S |
probably benign |
Het |
| Add2 |
A |
G |
6: 86,084,388 (GRCm39) |
I479V |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,168 (GRCm39) |
M28K |
probably benign |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,993 (GRCm39) |
S87G |
probably benign |
Het |
| Atraid |
T |
C |
5: 31,209,826 (GRCm39) |
L46P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,916,772 (GRCm39) |
Y509* |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,739,128 (GRCm39) |
L1257Q |
probably damaging |
Het |
| Csn1s2b |
A |
G |
5: 87,957,780 (GRCm39) |
I5V |
probably benign |
Het |
| Dhps |
T |
C |
8: 85,800,379 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,962 (GRCm39) |
S717P |
probably damaging |
Het |
| Dppa5a |
G |
T |
9: 78,275,113 (GRCm39) |
S63Y |
probably damaging |
Het |
| Eif3l |
A |
T |
15: 78,970,719 (GRCm39) |
D331V |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,412,253 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,253,662 (GRCm39) |
Q18K |
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,251,918 (GRCm39) |
K56R |
probably damaging |
Het |
| H2-M3 |
T |
A |
17: 37,581,432 (GRCm39) |
Y31* |
probably null |
Het |
| Herc2 |
T |
C |
7: 55,815,031 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,782,687 (GRCm39) |
A675S |
possibly damaging |
Het |
| Lipo5 |
G |
A |
19: 33,445,186 (GRCm39) |
H128Y |
unknown |
Het |
| Or2bd2 |
T |
C |
7: 6,443,574 (GRCm39) |
L225P |
possibly damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,171 (GRCm39) |
I89V |
probably benign |
Het |
| Pdk4 |
C |
T |
6: 5,487,408 (GRCm39) |
V281I |
probably benign |
Het |
| Pkn3 |
G |
A |
2: 29,970,858 (GRCm39) |
G202D |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,487,594 (GRCm39) |
F1623L |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,907,934 (GRCm39) |
F203S |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,596 (GRCm39) |
L210S |
probably damaging |
Het |
| Taf5 |
T |
C |
19: 47,065,704 (GRCm39) |
|
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,475,270 (GRCm39) |
F226S |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,289,839 (GRCm39) |
|
probably benign |
Het |
| Tmx3 |
A |
G |
18: 90,555,240 (GRCm39) |
N319S |
possibly damaging |
Het |
| Trmt1 |
G |
T |
8: 85,426,385 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation