Incidental Mutation 'IGL02811:Rcbtb2'
| ID |
360571 |
| 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 # |
IGL02811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
73376185-73421495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73411851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 380
(V380E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022702]
[ENSMUST00000110952]
[ENSMUST00000163797]
[ENSMUST00000164298]
[ENSMUST00000164822]
[ENSMUST00000167401]
[ENSMUST00000169479]
[ENSMUST00000171767]
[ENSMUST00000169513]
[ENSMUST00000170677]
|
| AlphaFold |
Q99LJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022702
AA Change: V380E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: V380E
| 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 damaging
Transcript: ENSMUST00000110952
AA Change: V380E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: V380E
| 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: 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 damaging
Transcript: ENSMUST00000164822
AA Change: V380E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: V380E
| 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 |
unknown
Transcript: ENSMUST00000166875
AA Change: V17E
|
| SMART Domains |
Protein: ENSMUSP00000130168
Gene: ENSMUSG00000022106
AA Change: V17E
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
32 |
118 |
1.03e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167401
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169479
AA Change: V380E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: V380E
| 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 damaging
Transcript: ENSMUST00000171767
AA Change: V380E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: V380E
| 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 damaging
Transcript: ENSMUST00000169513
AA Change: V356E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: V356E
| 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 damaging
Transcript: ENSMUST00000170677
AA Change: V356E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: V356E
| 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 |
noncoding transcript
Transcript: ENSMUST00000170278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168470
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
C |
T |
13: 4,562,682 (GRCm39) |
R90H |
possibly damaging |
Het |
| BC048679 |
A |
T |
7: 81,144,937 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,221 (GRCm39) |
R984G |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,285 (GRCm39) |
I1139T |
possibly damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,273 (GRCm39) |
R167G |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,658,130 (GRCm39) |
K670E |
possibly damaging |
Het |
| Crtac1 |
T |
C |
19: 42,322,350 (GRCm39) |
E130G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,196,069 (GRCm39) |
T426A |
probably benign |
Het |
| Dimt1 |
T |
C |
13: 107,084,175 (GRCm39) |
|
probably benign |
Het |
| Dnal1 |
G |
A |
12: 84,178,166 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
C |
7: 80,029,589 (GRCm39) |
Y631C |
probably damaging |
Het |
| Hemk1 |
A |
T |
9: 107,208,750 (GRCm39) |
V149E |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,076 (GRCm39) |
V397A |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,026 (GRCm39) |
L2028* |
probably null |
Het |
| Krt33b |
C |
A |
11: 99,920,395 (GRCm39) |
C86F |
probably benign |
Het |
| Lmx1a |
A |
G |
1: 167,618,943 (GRCm39) |
I101V |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,100,582 (GRCm39) |
V4A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,944,718 (GRCm39) |
I440V |
possibly damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,795,804 (GRCm39) |
Y28H |
probably benign |
Het |
| Oas3 |
C |
A |
5: 120,902,387 (GRCm39) |
E636D |
unknown |
Het |
| Olfm4 |
T |
A |
14: 80,259,113 (GRCm39) |
S454T |
probably damaging |
Het |
| Or4l15 |
T |
A |
14: 50,197,590 (GRCm39) |
|
probably benign |
Het |
| Or52ab2 |
T |
C |
7: 102,970,140 (GRCm39) |
I174T |
probably benign |
Het |
| Otoa |
G |
T |
7: 120,717,878 (GRCm39) |
G365V |
possibly damaging |
Het |
| Pdgfrl |
G |
T |
8: 41,430,005 (GRCm39) |
R124L |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,836,106 (GRCm39) |
D345G |
probably damaging |
Het |
| Shq1 |
A |
T |
6: 100,607,945 (GRCm39) |
I322N |
probably damaging |
Het |
| Skint4 |
C |
A |
4: 111,944,200 (GRCm39) |
T4K |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,149 (GRCm39) |
I469T |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,607,988 (GRCm39) |
R319G |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,793,348 (GRCm39) |
I507M |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,923,458 (GRCm39) |
I271N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,858,335 (GRCm39) |
D2157G |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,231,899 (GRCm39) |
V586D |
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 |
|
IGL02800:Rcbtb2
|
APN |
14 |
73,405,543 (GRCm39) |
nonsense |
probably null |
|
|
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