Incidental Mutation 'IGL03411:Rcbtb1'
| ID |
421794 |
| 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 # |
IGL03411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59438658-59474714 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 59447419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022551]
[ENSMUST00000043227]
[ENSMUST00000140136]
[ENSMUST00000142326]
[ENSMUST00000172810]
[ENSMUST00000173547]
[ENSMUST00000174009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022551
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: M1K
| 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
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000140136
AA Change: M1K
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142326
AA Change: M1K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172810
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173547
AA Change: M1K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134360
Gene: ENSMUSG00000035469
AA Change: M1K
| 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
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,310 (GRCm39) |
I305T |
probably damaging |
Het |
| Adamts18 |
G |
A |
8: 114,490,929 (GRCm39) |
Q513* |
probably null |
Het |
| Adamts6 |
A |
G |
13: 104,450,842 (GRCm39) |
I342V |
possibly damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,582 (GRCm39) |
T216A |
possibly damaging |
Het |
| Coro1b |
A |
G |
19: 4,200,225 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
G |
A |
4: 115,382,890 (GRCm39) |
|
probably null |
Het |
| Cyp4x1 |
T |
A |
4: 114,965,982 (GRCm39) |
Q448L |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,430,916 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
C |
A |
5: 76,690,042 (GRCm39) |
A194D |
probably damaging |
Het |
| Fastkd1 |
A |
C |
2: 69,537,703 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,264 (GRCm39) |
L312P |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,802,078 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,236,649 (GRCm39) |
E397D |
possibly damaging |
Het |
| Lig1 |
C |
T |
7: 13,030,694 (GRCm39) |
R449C |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,164,018 (GRCm39) |
T1189A |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,436 (GRCm39) |
M1397I |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,980,330 (GRCm39) |
E1484G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,182,890 (GRCm39) |
I1019V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,612,474 (GRCm39) |
L63P |
probably damaging |
Het |
| Ogfod3 |
A |
T |
11: 121,068,630 (GRCm39) |
*316R |
probably null |
Het |
| Or6z7 |
T |
C |
7: 6,483,435 (GRCm39) |
K240R |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,320,618 (GRCm39) |
V193E |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,482 (GRCm39) |
P1826T |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,847 (GRCm39) |
I51V |
probably benign |
Het |
| Prpf4b |
C |
T |
13: 35,079,342 (GRCm39) |
L739F |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,702,864 (GRCm39) |
E520G |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shpk |
A |
G |
11: 73,105,861 (GRCm39) |
T238A |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 128,061,347 (GRCm39) |
Y418* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,815,553 (GRCm39) |
V212A |
possibly damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,354 (GRCm39) |
Y135F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,598,456 (GRCm39) |
A19486T |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,708,340 (GRCm39) |
N22K |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,368 (GRCm39) |
D390G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,806,634 (GRCm39) |
E527G |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,894 (GRCm39) |
E1538K |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,462 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,803,116 (GRCm39) |
S563G |
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 |
|
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