Incidental Mutation 'IGL03201:Rcbtb1'
| ID |
412977 |
| 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? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
IGL03201
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59438658-59474714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59460727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 230
(L230P)
|
| 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: L230P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: L230P
| 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: L230P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: L230P
| 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 |
unknown
Transcript: ENSMUST00000174830
AA Change: L81P
|
| SMART Domains |
Protein: ENSMUSP00000133421
Gene: ENSMUSG00000035469
AA Change: L81P
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,468 (GRCm39) |
E105G |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,429 (GRCm39) |
D757G |
probably damaging |
Het |
| Arpc3 |
A |
T |
5: 122,539,781 (GRCm39) |
I45F |
probably damaging |
Het |
| C3 |
C |
A |
17: 57,529,249 (GRCm39) |
V597L |
probably damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,108,213 (GRCm39) |
N299D |
probably benign |
Het |
| Cdr1 |
T |
A |
X: 60,229,154 (GRCm39) |
Q4L |
unknown |
Het |
| Cep170 |
G |
A |
1: 176,564,454 (GRCm39) |
S1464F |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,030,557 (GRCm39) |
Y826H |
probably damaging |
Het |
| Chic2 |
A |
G |
5: 75,171,954 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
C |
11: 70,509,338 (GRCm39) |
H81R |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,260,599 (GRCm39) |
I153T |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,272,300 (GRCm39) |
D699V |
unknown |
Het |
| Cul3 |
T |
G |
1: 80,259,144 (GRCm39) |
S379R |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,797,189 (GRCm39) |
I397F |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,022,906 (GRCm39) |
K1077R |
probably benign |
Het |
| Dnajc18 |
A |
G |
18: 35,813,972 (GRCm39) |
S266P |
probably benign |
Het |
| Dydc1 |
T |
G |
14: 40,800,647 (GRCm39) |
L74R |
probably damaging |
Het |
| Echdc2 |
G |
T |
4: 108,027,067 (GRCm39) |
A71S |
possibly damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,886,650 (GRCm39) |
D693V |
probably benign |
Het |
| Fscn3 |
T |
C |
6: 28,430,604 (GRCm39) |
V258A |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,869,516 (GRCm39) |
I4255N |
probably damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,200 (GRCm39) |
I171V |
possibly damaging |
Het |
| Ino80d |
G |
T |
1: 63,097,467 (GRCm39) |
T809K |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,220,566 (GRCm39) |
L433* |
probably null |
Het |
| Nlrp9c |
A |
T |
7: 26,084,533 (GRCm39) |
S349T |
probably benign |
Het |
| Parp11 |
T |
C |
6: 127,466,981 (GRCm39) |
I124T |
possibly damaging |
Het |
| Parp8 |
A |
T |
13: 116,999,605 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
T |
C |
4: 99,827,236 (GRCm39) |
F379L |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,671,448 (GRCm39) |
H482R |
probably benign |
Het |
| Phka1 |
A |
C |
X: 101,584,716 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
C |
12: 79,100,430 (GRCm39) |
W133R |
probably damaging |
Het |
| Polr2a |
A |
C |
11: 69,636,516 (GRCm39) |
L405* |
probably null |
Het |
| Prrg3 |
T |
A |
X: 71,010,108 (GRCm39) |
V3E |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,551,648 (GRCm39) |
K484E |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Ssbp2 |
T |
C |
13: 91,672,720 (GRCm39) |
Y27H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,665,692 (GRCm39) |
V157A |
probably damaging |
Het |
| Tbx15 |
G |
A |
3: 99,259,296 (GRCm39) |
S389N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,671,424 (GRCm39) |
|
probably benign |
Het |
| Ube2n |
T |
C |
10: 95,378,127 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
G |
A |
5: 149,505,352 (GRCm39) |
|
probably null |
Het |
| Wsb2 |
T |
C |
5: 117,514,620 (GRCm39) |
S298P |
possibly damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,974,166 (GRCm39) |
|
probably null |
Het |
| Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
| Zfp747 |
G |
A |
7: 126,973,180 (GRCm39) |
T330I |
probably damaging |
Het |
| Zfp949 |
A |
G |
9: 88,450,717 (GRCm39) |
R96G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation