Incidental Mutation 'R6484:Rcbtb2'
| ID |
517273 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
044616-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R6484 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
73376185-73421495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73414490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 434
(S434C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022702]
[ENSMUST00000110952]
[ENSMUST00000163797]
[ENSMUST00000164298]
[ENSMUST00000164822]
[ENSMUST00000167401]
[ENSMUST00000169479]
[ENSMUST00000169513]
[ENSMUST00000170677]
[ENSMUST00000171767]
|
| AlphaFold |
Q99LJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022702
AA Change: S434C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: S434C
| 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: S434C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: S434C
| 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: S434C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: S434C
| 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: S71C
|
| SMART Domains |
Protein: ENSMUSP00000130168
Gene: ENSMUSG00000022106
AA Change: S71C
| 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: S434C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: S434C
| 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: ENSMUST00000169513
AA Change: S410C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: S410C
| 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: S410C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: S410C
| 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: ENSMUST00000171767
AA Change: S434C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: S434C
| 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 |
noncoding transcript
Transcript: ENSMUST00000170278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168470
|
| Meta Mutation Damage Score |
0.1398 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
A |
T |
8: 80,416,952 (GRCm39) |
M353K |
probably damaging |
Het |
| Adgre4 |
G |
A |
17: 56,109,036 (GRCm39) |
V348M |
possibly damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,135 (GRCm39) |
V228A |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,169,921 (GRCm39) |
V1548A |
probably damaging |
Het |
| Btbd8 |
T |
C |
5: 107,651,451 (GRCm39) |
S115P |
probably benign |
Het |
| Car8 |
A |
G |
4: 8,189,362 (GRCm39) |
F151L |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,144,775 (GRCm39) |
Q546R |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,658,868 (GRCm39) |
V414M |
possibly damaging |
Het |
| Col6a3 |
C |
A |
1: 90,719,645 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
G |
A |
5: 4,136,627 (GRCm39) |
T389M |
probably benign |
Het |
| Cyren |
G |
A |
6: 34,851,551 (GRCm39) |
S101L |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,481 (GRCm39) |
T126A |
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,943,686 (GRCm39) |
K395* |
probably null |
Het |
| Dthd1 |
A |
G |
5: 62,971,675 (GRCm39) |
N166S |
probably benign |
Het |
| Eefsec |
C |
G |
6: 88,274,770 (GRCm39) |
W398S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,115,130 (GRCm39) |
H214L |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,458 (GRCm39) |
I443V |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,231,935 (GRCm39) |
V1984A |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,468,983 (GRCm39) |
S280P |
probably damaging |
Het |
| Il12rb1 |
C |
T |
8: 71,262,348 (GRCm39) |
|
probably null |
Het |
| Itgax |
T |
A |
7: 127,732,890 (GRCm39) |
C255S |
probably benign |
Het |
| Kifc5b |
T |
C |
17: 27,143,746 (GRCm39) |
V506A |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,980,372 (GRCm39) |
E54G |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
| Mctp1 |
A |
G |
13: 76,836,744 (GRCm39) |
I104V |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,676,843 (GRCm39) |
E552G |
possibly damaging |
Het |
| Mpc1 |
A |
G |
17: 8,515,788 (GRCm39) |
E160G |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,590,293 (GRCm39) |
I76N |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,470,563 (GRCm39) |
I1032F |
probably benign |
Het |
| Olfml2a |
G |
A |
2: 38,849,780 (GRCm39) |
V499I |
probably damaging |
Het |
| Or2h1 |
T |
A |
17: 37,404,158 (GRCm39) |
I203F |
probably benign |
Het |
| Or4f58 |
A |
T |
2: 111,851,764 (GRCm39) |
L145* |
probably null |
Het |
| Or5b105 |
A |
G |
19: 13,080,431 (GRCm39) |
V79A |
probably benign |
Het |
| P2ry12 |
A |
G |
3: 59,124,754 (GRCm39) |
L307P |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,255,044 (GRCm39) |
I135T |
possibly damaging |
Het |
| Poln |
C |
T |
5: 34,286,857 (GRCm39) |
A104T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,798,237 (GRCm39) |
D342G |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,733,764 (GRCm39) |
F885I |
possibly damaging |
Het |
| Rfc1 |
A |
G |
5: 65,451,020 (GRCm39) |
V356A |
probably benign |
Het |
| Rln1 |
A |
G |
19: 29,311,902 (GRCm39) |
F32S |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,677,269 (GRCm39) |
L3194P |
possibly damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,353 (GRCm39) |
V34A |
probably damaging |
Het |
| Scgb3a2 |
T |
C |
18: 43,899,784 (GRCm39) |
I24T |
possibly damaging |
Het |
| Slc35e2 |
T |
G |
4: 155,697,104 (GRCm39) |
V206G |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,552,125 (GRCm39) |
M890L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,887,703 (GRCm39) |
L2042P |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,451,600 (GRCm39) |
V9E |
probably damaging |
Het |
| Tbc1d23 |
C |
T |
16: 56,998,379 (GRCm39) |
V520M |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,361,617 (GRCm39) |
E203G |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,135 (GRCm39) |
D707G |
probably damaging |
Het |
| Tlr12 |
T |
A |
4: 128,509,847 (GRCm39) |
D801V |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,763,525 (GRCm39) |
N342K |
possibly damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,362,918 (GRCm39) |
F279V |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,540 (GRCm39) |
C630* |
probably null |
Het |
| Zbtb1 |
C |
T |
12: 76,432,665 (GRCm39) |
T217I |
probably damaging |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
C |
T |
11: 72,786,097 (GRCm39) |
P2090S |
probably damaging |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAGGCAATGACAAGGTTTT -3'
(R):5'- ATCGCAGTGTCTGTCTCCTG -3'
Sequencing Primer
(F):5'- ATTATTGCTACCCTGGGACCAAG -3'
(R):5'- TGTCTCCTGGCCTGGAAAGAAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation