Incidental Mutation 'R5832:Rcbtb2'
ID |
449378 |
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 |
044054-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R5832 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
73376185-73421495 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 73404262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 85
(Q85K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022702]
[ENSMUST00000110952]
[ENSMUST00000163339]
[ENSMUST00000163533]
[ENSMUST00000163797]
[ENSMUST00000164298]
[ENSMUST00000164822]
[ENSMUST00000165727]
[ENSMUST00000169479]
[ENSMUST00000171767]
[ENSMUST00000169513]
[ENSMUST00000170677]
[ENSMUST00000171070]
[ENSMUST00000165567]
[ENSMUST00000167021]
[ENSMUST00000165429]
[ENSMUST00000170368]
[ENSMUST00000170370]
[ENSMUST00000167401]
|
AlphaFold |
Q99LJ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022702
AA Change: Q245K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022702 Gene: ENSMUSG00000022106 AA Change: Q245K
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 |
possibly damaging
Transcript: ENSMUST00000110952
AA Change: Q245K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106577 Gene: ENSMUSG00000022106 AA Change: Q245K
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: ENSMUST00000163339
|
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 |
possibly damaging
Transcript: ENSMUST00000163797
AA Change: Q158K
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000132125 Gene: ENSMUSG00000022106 AA Change: Q158K
Domain | Start | End | E-Value | Type |
Pfam:RCC1
|
136 |
174 |
7.7e-12 |
PFAM |
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164298
AA Change: Q231K
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126651 Gene: ENSMUSG00000022106 AA Change: Q231K
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 |
possibly damaging
Transcript: ENSMUST00000164822
AA Change: Q245K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131588 Gene: ENSMUSG00000022106 AA Change: Q245K
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 |
possibly damaging
Transcript: ENSMUST00000165727
AA Change: Q85K
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128479 Gene: ENSMUSG00000022106 AA Change: Q85K
Domain | Start | End | E-Value | Type |
Pfam:RCC1
|
11 |
60 |
2.3e-14 |
PFAM |
Pfam:RCC1
|
63 |
90 |
6e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169479
AA Change: Q245K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126898 Gene: ENSMUSG00000022106 AA Change: Q245K
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: ENSMUST00000171767
AA Change: Q245K
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000127397 Gene: ENSMUSG00000022106 AA Change: Q245K
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 |
possibly damaging
Transcript: ENSMUST00000169513
AA Change: Q221K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128579 Gene: ENSMUSG00000022106 AA Change: Q221K
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 |
possibly damaging
Transcript: ENSMUST00000170677
AA Change: Q221K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126510 Gene: ENSMUSG00000022106 AA Change: Q221K
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: ENSMUST00000171163
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171070
|
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: ENSMUST00000167021
|
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 benign
Transcript: ENSMUST00000170368
|
SMART Domains |
Protein: ENSMUSP00000126276 Gene: ENSMUSG00000022106
Domain | Start | End | E-Value | Type |
SCOP:d1a12a_
|
45 |
86 |
9e-3 |
SMART |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167401
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Adgrv1 |
G |
A |
13: 81,251,421 (GRCm39) |
S6232F |
possibly damaging |
Het |
Alox12 |
T |
C |
11: 70,144,106 (GRCm39) |
E129G |
probably damaging |
Het |
Anxa13 |
C |
A |
15: 58,205,389 (GRCm39) |
|
noncoding transcript |
Het |
Arfgef3 |
C |
T |
10: 18,506,168 (GRCm39) |
G878D |
probably damaging |
Het |
Asnsd1 |
T |
C |
1: 53,386,634 (GRCm39) |
D331G |
probably damaging |
Het |
Crisp1 |
A |
G |
17: 40,612,208 (GRCm39) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,842,447 (GRCm39) |
N217S |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,470,460 (GRCm39) |
Y1463F |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,223,752 (GRCm39) |
W1033R |
probably damaging |
Het |
Galr2 |
T |
A |
11: 116,172,457 (GRCm39) |
L49Q |
probably damaging |
Het |
Gstm5 |
T |
C |
3: 107,804,853 (GRCm39) |
V115A |
probably benign |
Het |
Gtpbp2 |
C |
T |
17: 46,478,788 (GRCm39) |
T535I |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,128,144 (GRCm39) |
E326G |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,902,533 (GRCm39) |
V388A |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Kitl |
C |
A |
10: 99,915,882 (GRCm39) |
P137H |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,520,070 (GRCm39) |
Y38N |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,121,649 (GRCm39) |
N5I |
probably damaging |
Het |
Mc3r |
T |
A |
2: 172,091,350 (GRCm39) |
C191S |
probably benign |
Het |
Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,949,520 (GRCm39) |
|
probably null |
Het |
Nav2 |
A |
T |
7: 49,197,817 (GRCm39) |
|
probably null |
Het |
Patz1 |
C |
T |
11: 3,256,277 (GRCm39) |
P521L |
probably benign |
Het |
Pramel14 |
A |
G |
4: 143,718,532 (GRCm39) |
S304P |
probably damaging |
Het |
Prkcd |
T |
C |
14: 30,327,778 (GRCm39) |
T103A |
probably damaging |
Het |
Pttg1ip |
T |
C |
10: 77,419,859 (GRCm39) |
|
probably null |
Het |
Rdh16f1 |
T |
A |
10: 127,624,618 (GRCm39) |
V152E |
probably damaging |
Het |
Rsph4a |
A |
G |
10: 33,785,498 (GRCm39) |
I470V |
probably benign |
Het |
Sarnp |
T |
C |
10: 128,684,181 (GRCm39) |
|
probably null |
Het |
Slc39a6 |
C |
A |
18: 24,734,669 (GRCm39) |
V7L |
possibly damaging |
Het |
Slco1a4 |
A |
G |
6: 141,765,270 (GRCm39) |
I324T |
probably benign |
Het |
Spata31d1a |
A |
T |
13: 59,849,380 (GRCm39) |
V916E |
probably damaging |
Het |
Srgap1 |
T |
G |
10: 121,676,819 (GRCm39) |
T392P |
probably damaging |
Het |
Tbc1d20 |
A |
T |
2: 152,153,282 (GRCm39) |
M271L |
possibly damaging |
Het |
Tbc1d22b |
T |
C |
17: 29,789,621 (GRCm39) |
I161T |
possibly damaging |
Het |
Tcof1 |
G |
T |
18: 60,952,611 (GRCm39) |
N918K |
unknown |
Het |
Tnr |
A |
G |
1: 159,713,692 (GRCm39) |
T707A |
probably benign |
Het |
Trim66 |
A |
G |
7: 109,054,409 (GRCm39) |
F1267S |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,764,183 (GRCm39) |
H263R |
possibly damaging |
Het |
Tshz2 |
T |
A |
2: 169,725,965 (GRCm39) |
V187D |
possibly damaging |
Het |
Ube2f |
T |
G |
1: 91,213,046 (GRCm39) |
V176G |
possibly damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,761,318 (GRCm39) |
A680T |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,460,670 (GRCm39) |
C665* |
probably null |
Het |
Zfp954 |
A |
G |
7: 7,118,389 (GRCm39) |
V385A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGCATGTGGGCAGATGTG -3'
(R):5'- CTGCACCTTAGTTCAGGGGAAG -3'
Sequencing Primer
(F):5'- CTCCATGGCTGTTGTGGACAC -3'
(R):5'- ACCTTAGTTCAGGGGAAGGCTTTG -3'
|
Posted On |
2016-12-20 |