Incidental Mutation 'IGL00905:Rcbtb1'
| ID |
28930 |
| 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 # |
IGL00905
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59438658-59474714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59465754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 366
(S366G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022551]
[ENSMUST00000043227]
[ENSMUST00000172810]
[ENSMUST00000174009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022551
AA Change: S366G
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: S366G
| 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 benign
Transcript: ENSMUST00000043227
AA Change: S366G
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: S366G
| 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: ENSMUST00000147280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172810
|
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,949,373 (GRCm39) |
E58G |
probably damaging |
Het |
| D130040H23Rik |
A |
T |
8: 69,753,422 (GRCm39) |
K16I |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,055,332 (GRCm39) |
T602A |
possibly damaging |
Het |
| Fam161b |
C |
T |
12: 84,404,459 (GRCm39) |
V74I |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,466,068 (GRCm39) |
E504G |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,189,744 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,358,673 (GRCm39) |
|
probably benign |
Het |
| Mprip |
T |
C |
11: 59,662,994 (GRCm39) |
V982A |
possibly damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,901,563 (GRCm39) |
I305T |
probably benign |
Het |
| Or8g19 |
T |
G |
9: 39,056,326 (GRCm39) |
F310C |
probably damaging |
Het |
| Phf1 |
A |
T |
17: 27,155,568 (GRCm39) |
R378W |
possibly damaging |
Het |
| Pramel25 |
A |
G |
4: 143,521,844 (GRCm39) |
T487A |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,270,050 (GRCm39) |
D37E |
possibly damaging |
Het |
| Scn5a |
C |
A |
9: 119,365,567 (GRCm39) |
W360L |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,936,839 (GRCm39) |
F398S |
probably damaging |
Het |
| Slc25a47 |
C |
A |
12: 108,821,314 (GRCm39) |
T141K |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
| Tango6 |
G |
T |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
| Tmem231 |
A |
T |
8: 112,645,072 (GRCm39) |
|
probably benign |
Het |
| Tnr |
G |
A |
1: 159,679,752 (GRCm39) |
R242Q |
probably benign |
Het |
| Usp5 |
G |
A |
6: 124,792,576 (GRCm39) |
P821S |
probably damaging |
Het |
| Utp11 |
G |
T |
4: 124,577,586 (GRCm39) |
P63Q |
probably damaging |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
|
| Other mutations in Rcbtb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation