Incidental Mutation 'R2858:Rcbtb1'
| ID |
252595 |
| 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 |
040448-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R2858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
59438658-59474714 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 59458861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022551]
[ENSMUST00000043227]
[ENSMUST00000172810]
[ENSMUST00000173547]
[ENSMUST00000173547]
[ENSMUST00000174009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022551
|
| SMART Domains |
Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
| 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 null
Transcript: ENSMUST00000043227
|
| SMART Domains |
Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
| 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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
A |
5: 107,693,667 (GRCm39) |
F95I |
probably benign |
Het |
| Abcg5 |
A |
G |
17: 84,977,648 (GRCm39) |
|
probably null |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Bltp3a |
G |
T |
17: 28,104,436 (GRCm39) |
R494L |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Chd4 |
A |
G |
6: 125,081,849 (GRCm39) |
K481R |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,633,687 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ddb2 |
T |
C |
2: 91,047,022 (GRCm39) |
T338A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,599 (GRCm39) |
V2038A |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
| Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,563,753 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,722 (GRCm39) |
I245K |
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,918 (GRCm39) |
D109G |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,548 (GRCm39) |
R376G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,764,646 (GRCm39) |
E799V |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,362 (GRCm39) |
N793I |
probably damaging |
Het |
| Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Polq |
T |
A |
16: 36,883,115 (GRCm39) |
F1760I |
possibly damaging |
Het |
| Ppp1r1b |
T |
C |
11: 98,246,145 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,571,456 (GRCm39) |
L169P |
probably damaging |
Het |
| S1pr4 |
C |
A |
10: 81,335,073 (GRCm39) |
A134S |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc24a1 |
T |
C |
9: 64,856,614 (GRCm39) |
I98V |
unknown |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,823,819 (GRCm39) |
T544A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGCAAGGTACAGTTCAC -3'
(R):5'- CTGGCACCTCTGAAATGGAG -3'
Sequencing Primer
(F):5'- GGGCAAGGTACAGTTCACAAAACC -3'
(R):5'- GGAAATGTAGAGCACGCACCTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation