Incidental Mutation 'IGL02800:Rcbtb2'
| ID |
360161 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rcbtb2
|
| Ensembl Gene |
ENSMUSG00000022106 |
| Gene Name |
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 |
| Synonyms |
Rc/btb2, 2810420M18Rik, 2610028E02Rik, Chc1l |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
IGL02800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
73376185-73421495 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 73405543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 299
(Y299*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022702]
[ENSMUST00000110952]
[ENSMUST00000163533]
[ENSMUST00000163797]
[ENSMUST00000164298]
[ENSMUST00000164822]
[ENSMUST00000165429]
[ENSMUST00000170677]
[ENSMUST00000169513]
[ENSMUST00000171767]
[ENSMUST00000169479]
[ENSMUST00000167401]
[ENSMUST00000165727]
[ENSMUST00000165567]
[ENSMUST00000170370]
|
| AlphaFold |
Q99LJ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022702
AA Change: Y299*
|
| SMART Domains |
Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: Y299*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
167 |
1.1e-16 |
PFAM |
|
Pfam:RCC1_2
|
154 |
183 |
7.1e-15 |
PFAM |
|
Pfam:RCC1
|
170 |
220 |
1.7e-14 |
PFAM |
|
Pfam:RCC1
|
223 |
272 |
7.1e-18 |
PFAM |
|
Pfam:RCC1_2
|
259 |
288 |
1.7e-12 |
PFAM |
|
Pfam:RCC1
|
275 |
324 |
8e-16 |
PFAM |
|
BTB
|
394 |
487 |
2.69e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110952
AA Change: Y299*
|
| SMART Domains |
Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: Y299*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
167 |
3e-16 |
PFAM |
|
Pfam:RCC1_2
|
154 |
183 |
7.8e-15 |
PFAM |
|
Pfam:RCC1
|
170 |
220 |
1.4e-15 |
PFAM |
|
Pfam:RCC1
|
223 |
272 |
9.4e-18 |
PFAM |
|
Pfam:RCC1_2
|
259 |
288 |
2.6e-11 |
PFAM |
|
Pfam:RCC1
|
275 |
324 |
1.2e-13 |
PFAM |
|
BTB
|
394 |
487 |
2.69e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163533
|
| SMART Domains |
Protein: ENSMUSP00000130828
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
150 |
4.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163797
|
| SMART Domains |
Protein: ENSMUSP00000132125
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
136 |
174 |
7.7e-12 |
PFAM |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164298
|
| SMART Domains |
Protein: ENSMUSP00000126651
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
103 |
153 |
2.9e-17 |
PFAM |
|
Pfam:RCC1_2
|
140 |
169 |
2.2e-15 |
PFAM |
|
Pfam:RCC1
|
156 |
206 |
4.4e-15 |
PFAM |
|
Pfam:RCC1
|
209 |
247 |
1.2e-11 |
PFAM |
|
low complexity region
|
272 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164822
AA Change: Y299*
|
| SMART Domains |
Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: Y299*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
167 |
1.1e-16 |
PFAM |
|
Pfam:RCC1_2
|
154 |
183 |
7.1e-15 |
PFAM |
|
Pfam:RCC1
|
170 |
220 |
1.7e-14 |
PFAM |
|
Pfam:RCC1
|
223 |
272 |
7.1e-18 |
PFAM |
|
Pfam:RCC1_2
|
259 |
288 |
1.7e-12 |
PFAM |
|
Pfam:RCC1
|
275 |
324 |
8e-16 |
PFAM |
|
BTB
|
394 |
487 |
2.69e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165429
|
| SMART Domains |
Protein: ENSMUSP00000127258
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
93 |
143 |
4.4e-17 |
PFAM |
|
Pfam:RCC1_2
|
130 |
157 |
5.2e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170677
AA Change: Y275*
|
| SMART Domains |
Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: Y275*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
93 |
143 |
3.1e-16 |
PFAM |
|
Pfam:RCC1_2
|
130 |
159 |
1.9e-14 |
PFAM |
|
Pfam:RCC1
|
146 |
196 |
4.7e-14 |
PFAM |
|
Pfam:RCC1
|
199 |
248 |
1.9e-17 |
PFAM |
|
Pfam:RCC1_2
|
235 |
264 |
4.4e-12 |
PFAM |
|
Pfam:RCC1
|
251 |
300 |
2.2e-15 |
PFAM |
|
BTB
|
370 |
463 |
2.69e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169513
AA Change: Y275*
|
| SMART Domains |
Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: Y275*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
93 |
143 |
3.1e-16 |
PFAM |
|
Pfam:RCC1_2
|
130 |
159 |
1.9e-14 |
PFAM |
|
Pfam:RCC1
|
146 |
196 |
4.7e-14 |
PFAM |
|
Pfam:RCC1
|
199 |
248 |
1.9e-17 |
PFAM |
|
Pfam:RCC1_2
|
235 |
264 |
4.4e-12 |
PFAM |
|
Pfam:RCC1
|
251 |
300 |
2.2e-15 |
PFAM |
|
BTB
|
370 |
463 |
2.69e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171767
AA Change: Y299*
|
| SMART Domains |
Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: Y299*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
167 |
1.7e-16 |
PFAM |
|
Pfam:RCC1_2
|
154 |
183 |
4.9e-15 |
PFAM |
|
Pfam:RCC1
|
170 |
220 |
8.4e-16 |
PFAM |
|
Pfam:RCC1
|
223 |
272 |
5.5e-18 |
PFAM |
|
Pfam:RCC1_2
|
259 |
288 |
1.7e-11 |
PFAM |
|
Pfam:RCC1
|
275 |
324 |
6.8e-14 |
PFAM |
|
BTB
|
394 |
487 |
2.69e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169479
AA Change: Y299*
|
| SMART Domains |
Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: Y299*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
167 |
1.1e-16 |
PFAM |
|
Pfam:RCC1_2
|
154 |
183 |
7.1e-15 |
PFAM |
|
Pfam:RCC1
|
170 |
220 |
1.7e-14 |
PFAM |
|
Pfam:RCC1
|
223 |
272 |
7.1e-18 |
PFAM |
|
Pfam:RCC1_2
|
259 |
288 |
1.7e-12 |
PFAM |
|
Pfam:RCC1
|
275 |
324 |
8e-16 |
PFAM |
|
BTB
|
394 |
487 |
2.69e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171163
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165727
|
| SMART Domains |
Protein: ENSMUSP00000128479
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
11 |
60 |
2.3e-14 |
PFAM |
|
Pfam:RCC1
|
63 |
90 |
6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165567
|
| SMART Domains |
Protein: ENSMUSP00000130240
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
167 |
5.3e-17 |
PFAM |
|
Pfam:RCC1_2
|
154 |
172 |
6.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170370
|
| SMART Domains |
Protein: ENSMUSP00000130732
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a12a_
|
45 |
128 |
1e-14 |
SMART |
|
| 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 containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,349 (GRCm39) |
I1045T |
probably damaging |
Het |
| Ankrd22 |
T |
C |
19: 34,143,181 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,163,760 (GRCm39) |
D686G |
probably damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,569 (GRCm39) |
|
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,333 (GRCm39) |
L306F |
probably benign |
Het |
| Ccdc153 |
A |
G |
9: 44,157,129 (GRCm39) |
E135G |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,802,224 (GRCm39) |
D148G |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,471,947 (GRCm39) |
M144K |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,826,552 (GRCm39) |
V1049A |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,279,034 (GRCm39) |
D476G |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,797,504 (GRCm39) |
|
probably null |
Het |
| Eif4h |
T |
C |
5: 134,656,459 (GRCm39) |
D77G |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
| Fxyd5 |
C |
T |
7: 30,732,404 (GRCm39) |
R176H |
possibly damaging |
Het |
| G6pd2 |
A |
G |
5: 61,966,735 (GRCm39) |
E170G |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,668 (GRCm39) |
I314T |
possibly damaging |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,862 (GRCm39) |
V41A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,053,092 (GRCm39) |
C461S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,838 (GRCm39) |
D442G |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,015,183 (GRCm39) |
I847V |
probably damaging |
Het |
| Mia2 |
C |
T |
12: 59,235,277 (GRCm39) |
R1326* |
probably null |
Het |
| Myo15a |
C |
A |
11: 60,393,195 (GRCm39) |
H2240N |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,942 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,589 (GRCm39) |
I98F |
possibly damaging |
Het |
| Osgep |
T |
A |
14: 51,153,314 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
| Pgm3 |
T |
C |
9: 86,437,431 (GRCm39) |
E481G |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,605,899 (GRCm39) |
D1326V |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,299,623 (GRCm39) |
D590G |
possibly damaging |
Het |
| Rapsn |
A |
G |
2: 90,873,584 (GRCm39) |
M244V |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,715,752 (GRCm39) |
D760E |
probably benign |
Het |
| Smim23 |
C |
A |
11: 32,774,424 (GRCm39) |
|
probably null |
Het |
| Sva |
A |
G |
6: 42,017,069 (GRCm39) |
T59A |
unknown |
Het |
| Tacc2 |
T |
A |
7: 130,225,809 (GRCm39) |
D831E |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,635,154 (GRCm39) |
N551S |
probably benign |
Het |
| Tg |
G |
T |
15: 66,629,735 (GRCm39) |
W472L |
probably damaging |
Het |
| Tmem231 |
A |
G |
8: 112,640,664 (GRCm39) |
V283A |
probably benign |
Het |
| Traf4 |
A |
T |
11: 78,051,061 (GRCm39) |
I365N |
possibly damaging |
Het |
| Usf3 |
G |
A |
16: 44,039,459 (GRCm39) |
S1313N |
probably benign |
Het |
| Vangl1 |
G |
A |
3: 102,070,611 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
C |
15: 8,111,980 (GRCm39) |
S88G |
probably benign |
Het |
|
| Other mutations in Rcbtb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01981:Rcbtb2
|
APN |
14 |
73,402,222 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02550:Rcbtb2
|
APN |
14 |
73,399,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02811:Rcbtb2
|
APN |
14 |
73,411,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:Rcbtb2
|
UTSW |
14 |
73,415,909 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0390:Rcbtb2
|
UTSW |
14 |
73,415,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0448:Rcbtb2
|
UTSW |
14 |
73,415,869 (GRCm39) |
splice site |
probably benign |
|
|
R1298:Rcbtb2
|
UTSW |
14 |
73,399,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1567:Rcbtb2
|
UTSW |
14 |
73,399,902 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2014:Rcbtb2
|
UTSW |
14 |
73,411,826 (GRCm39) |
splice site |
probably benign |
|
|
R2137:Rcbtb2
|
UTSW |
14 |
73,399,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Rcbtb2
|
UTSW |
14 |
73,416,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4505:Rcbtb2
|
UTSW |
14 |
73,411,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5832:Rcbtb2
|
UTSW |
14 |
73,404,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5898:Rcbtb2
|
UTSW |
14 |
73,399,405 (GRCm39) |
nonsense |
probably null |
|
|
R6484:Rcbtb2
|
UTSW |
14 |
73,414,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7252:Rcbtb2
|
UTSW |
14 |
73,404,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Rcbtb2
|
UTSW |
14 |
73,419,806 (GRCm39) |
splice site |
probably null |
|
|
R7654:Rcbtb2
|
UTSW |
14 |
73,411,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7762:Rcbtb2
|
UTSW |
14 |
73,415,906 (GRCm39) |
missense |
probably benign |
|
|
R7951:Rcbtb2
|
UTSW |
14 |
73,403,992 (GRCm39) |
nonsense |
probably null |
|
|
R7960:Rcbtb2
|
UTSW |
14 |
73,399,384 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8086:Rcbtb2
|
UTSW |
14 |
73,411,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8366:Rcbtb2
|
UTSW |
14 |
73,444,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8696:Rcbtb2
|
UTSW |
14 |
73,404,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9206:Rcbtb2
|
UTSW |
14 |
73,414,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Rcbtb2
|
UTSW |
14 |
73,414,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Rcbtb2
|
UTSW |
14 |
73,411,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation