Incidental Mutation 'R8086:Rcbtb2'
| ID |
629672 |
| 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 |
067519-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R8086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
73376185-73421495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73411305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 357
(F357L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131588
(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: F357L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022702
Gene: ENSMUSG00000022106
AA Change: F357L
| 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: F357L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106577
Gene: ENSMUSG00000022106
AA Change: F357L
| 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: F357L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131588
Gene: ENSMUSG00000022106
AA Change: F357L
| 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: ENSMUST00000166875
|
| SMART Domains |
Protein: ENSMUSP00000130168
Gene: ENSMUSG00000022106
| 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: F357L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126898
Gene: ENSMUSG00000022106
AA Change: F357L
| 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: F333L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128579
Gene: ENSMUSG00000022106
AA Change: F333L
| 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: F333L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126510
Gene: ENSMUSG00000022106
AA Change: F333L
| 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: F357L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
AA Change: F357L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,808 (GRCm39) |
H372L |
|
Het |
| Abcb1a |
A |
T |
5: 8,724,833 (GRCm39) |
T89S |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,774 (GRCm39) |
V146A |
probably benign |
Het |
| App |
T |
C |
16: 84,917,428 (GRCm39) |
Y72C |
unknown |
Het |
| Arhgap20 |
T |
C |
9: 51,760,563 (GRCm39) |
S805P |
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,239,911 (GRCm39) |
R208S |
probably benign |
Het |
| Btnl4 |
A |
C |
17: 34,692,976 (GRCm39) |
|
probably null |
Het |
| Cacng7 |
T |
C |
7: 3,387,518 (GRCm39) |
S134P |
probably benign |
Het |
| Capn9 |
A |
T |
8: 125,334,692 (GRCm39) |
|
probably null |
Het |
| Cox4i1 |
T |
A |
8: 121,400,779 (GRCm39) |
M148K |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,285,713 (GRCm39) |
I20V |
possibly damaging |
Het |
| Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
| Dnah14 |
C |
A |
1: 181,593,797 (GRCm39) |
T3380K |
probably damaging |
Het |
| Dnajc3 |
G |
T |
14: 119,208,192 (GRCm39) |
E276* |
probably null |
Het |
| Dock10 |
C |
A |
1: 80,481,707 (GRCm39) |
C1772F |
probably benign |
Het |
| Fank1 |
A |
T |
7: 133,454,959 (GRCm39) |
E26D |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,813,389 (GRCm39) |
C2308F |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,659,471 (GRCm39) |
M235K |
probably damaging |
Het |
| Gm7361 |
C |
T |
5: 26,465,446 (GRCm39) |
R148C |
probably damaging |
Het |
| Hinfp |
C |
T |
9: 44,210,286 (GRCm39) |
R183Q |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,314,252 (GRCm39) |
Y221C |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,230,728 (GRCm39) |
H322L |
unknown |
Het |
| Il6st |
T |
A |
13: 112,631,094 (GRCm39) |
|
probably null |
Het |
| Impa1 |
T |
C |
3: 10,387,988 (GRCm39) |
K145E |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,679,869 (GRCm39) |
M847L |
probably benign |
Het |
| Itgb6 |
A |
G |
2: 60,480,376 (GRCm39) |
V320A |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,630 (GRCm39) |
H678Q |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,696,091 (GRCm39) |
T311A |
probably benign |
Het |
| Nefl |
T |
C |
14: 68,323,480 (GRCm39) |
Y369H |
probably damaging |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,188 (GRCm39) |
Y2983C |
probably damaging |
Het |
| Potegl |
A |
G |
2: 23,130,934 (GRCm39) |
|
probably null |
Het |
| Prr5l |
C |
T |
2: 101,571,709 (GRCm39) |
E123K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,482,500 (GRCm39) |
Y1024* |
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,138,762 (GRCm39) |
L147Q |
probably damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,173 (GRCm39) |
R223C |
probably benign |
Het |
| Rnf24 |
A |
G |
2: 131,145,468 (GRCm39) |
V114A |
probably benign |
Het |
| Slc7a1 |
T |
G |
5: 148,288,899 (GRCm39) |
N116T |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,998 (GRCm39) |
C306R |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,686,482 (GRCm39) |
S697P |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,040,738 (GRCm39) |
N935I |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,201,052 (GRCm39) |
P4S |
unknown |
Het |
| Vmn1r237 |
T |
G |
17: 21,534,509 (GRCm39) |
D77E |
possibly damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,250 (GRCm39) |
A55T |
probably damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,876 (GRCm39) |
A359E |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
| Zbtb25 |
A |
G |
12: 76,395,923 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp180 |
C |
A |
7: 23,805,535 (GRCm39) |
D651E |
probably benign |
Het |
| Zfp979 |
T |
C |
4: 147,698,004 (GRCm39) |
D235G |
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 |
|
|
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 |
|
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'- GTCTGAGTCAAGTGCACTCG -3'
(R):5'- AATAGTTTTAGTTCCCCTCCCCAAG -3'
Sequencing Primer
(F):5'- AAGGAGAGGCCAGCTCTTGTC -3'
(R):5'- GGGCTCCCAGAAAGAGGTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation