Incidental Mutation 'IGL01981:Rcbtb2'
ID |
183500 |
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 # |
IGL01981
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
73376185-73421495 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73402222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 136
(S136P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022702]
[ENSMUST00000110952]
[ENSMUST00000163339]
[ENSMUST00000163533]
[ENSMUST00000163797]
[ENSMUST00000164298]
[ENSMUST00000165567]
[ENSMUST00000164822]
[ENSMUST00000165429]
[ENSMUST00000169479]
[ENSMUST00000170677]
[ENSMUST00000169513]
[ENSMUST00000165727]
[ENSMUST00000167401]
[ENSMUST00000167021]
[ENSMUST00000171070]
[ENSMUST00000170368]
[ENSMUST00000170370]
[ENSMUST00000171767]
|
AlphaFold |
Q99LJ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022702
AA Change: S150P
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000022702 Gene: ENSMUSG00000022106 AA Change: S150P
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: S150P
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106577 Gene: ENSMUSG00000022106 AA Change: S150P
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 |
silent
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 |
possibly damaging
Transcript: ENSMUST00000164298
AA Change: S136P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126651 Gene: ENSMUSG00000022106 AA Change: S136P
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: ENSMUST00000165567
AA Change: S150P
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130240 Gene: ENSMUSG00000022106 AA Change: S150P
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 |
possibly damaging
Transcript: ENSMUST00000164822
AA Change: S150P
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131588 Gene: ENSMUSG00000022106 AA Change: S150P
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: ENSMUST00000165429
AA Change: S126P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127258 Gene: ENSMUSG00000022106 AA Change: S126P
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 |
possibly damaging
Transcript: ENSMUST00000169479
AA Change: S150P
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126898 Gene: ENSMUSG00000022106 AA Change: S150P
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: ENSMUST00000170677
AA Change: S126P
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126510 Gene: ENSMUSG00000022106 AA Change: S126P
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: ENSMUST00000169513
AA Change: S126P
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128579 Gene: ENSMUSG00000022106 AA Change: S126P
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 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: ENSMUST00000167401
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167021
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171070
|
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 |
possibly damaging
Transcript: ENSMUST00000171767
AA Change: S150P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127397 Gene: ENSMUSG00000022106 AA Change: S150P
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: ENSMUST00000171163
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
C |
7: 27,337,499 (GRCm39) |
D417A |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,969,336 (GRCm39) |
S231T |
possibly damaging |
Het |
Arhgap31 |
G |
A |
16: 38,421,935 (GRCm39) |
T1377I |
probably damaging |
Het |
Cdkl3 |
A |
G |
11: 51,895,896 (GRCm39) |
T48A |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,251,501 (GRCm39) |
Y510C |
probably damaging |
Het |
Chml |
A |
G |
1: 175,515,751 (GRCm39) |
S57P |
probably damaging |
Het |
Cpxm1 |
G |
T |
2: 130,236,060 (GRCm39) |
C367* |
probably null |
Het |
D930020B18Rik |
A |
G |
10: 121,528,319 (GRCm39) |
T428A |
probably damaging |
Het |
Dnaja3 |
A |
T |
16: 4,519,033 (GRCm39) |
I325F |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
Erbb3 |
A |
G |
10: 128,407,519 (GRCm39) |
V943A |
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,481 (GRCm39) |
I300V |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,588,537 (GRCm39) |
E76G |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
Furin |
A |
G |
7: 80,042,647 (GRCm39) |
L380P |
probably damaging |
Het |
Fxr2 |
A |
C |
11: 69,541,328 (GRCm39) |
I354L |
possibly damaging |
Het |
Garnl3 |
G |
T |
2: 32,887,741 (GRCm39) |
N756K |
probably damaging |
Het |
Gimap1 |
A |
G |
6: 48,720,258 (GRCm39) |
Y290C |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,935,795 (GRCm39) |
W99* |
probably null |
Het |
Hexd |
G |
T |
11: 121,107,819 (GRCm39) |
S183I |
possibly damaging |
Het |
Hmg20a |
C |
T |
9: 56,384,514 (GRCm39) |
P95S |
probably damaging |
Het |
Jhy |
A |
T |
9: 40,806,842 (GRCm39) |
I769N |
probably damaging |
Het |
Lrrd1 |
G |
T |
5: 3,901,267 (GRCm39) |
C524F |
probably damaging |
Het |
Musk |
C |
A |
4: 58,296,629 (GRCm39) |
S76R |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,513,160 (GRCm39) |
R613* |
probably null |
Het |
Naa16 |
T |
A |
14: 79,618,956 (GRCm39) |
E172D |
probably benign |
Het |
Obox6 |
A |
T |
7: 15,568,846 (GRCm39) |
M10K |
possibly damaging |
Het |
Or5al5 |
A |
T |
2: 85,961,174 (GRCm39) |
Y278N |
probably benign |
Het |
Pam |
C |
T |
1: 97,762,166 (GRCm39) |
V700M |
probably damaging |
Het |
Phf8-ps |
C |
T |
17: 33,286,628 (GRCm39) |
G58E |
probably damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,743,655 (GRCm39) |
R1978L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,791 (GRCm39) |
T1441S |
possibly damaging |
Het |
Plg |
A |
G |
17: 12,621,934 (GRCm39) |
|
probably benign |
Het |
Pot1a |
A |
G |
6: 25,750,099 (GRCm39) |
L521P |
probably damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,924 (GRCm39) |
P6S |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,270,256 (GRCm39) |
V1280E |
probably damaging |
Het |
Rtl1 |
C |
T |
12: 109,558,369 (GRCm39) |
E1157K |
possibly damaging |
Het |
Sell |
G |
A |
1: 163,893,195 (GRCm39) |
R137Q |
probably benign |
Het |
Shisa9 |
A |
T |
16: 12,062,522 (GRCm39) |
M248L |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,966,149 (GRCm39) |
E1144G |
probably benign |
Het |
Sphk2 |
G |
T |
7: 45,360,157 (GRCm39) |
Q616K |
probably benign |
Het |
Tecrl |
T |
C |
5: 83,442,453 (GRCm39) |
T207A |
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,996,842 (GRCm39) |
T1885A |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,232,965 (GRCm39) |
|
probably benign |
Het |
Usp32 |
A |
G |
11: 84,927,350 (GRCm39) |
M622T |
probably benign |
Het |
Vangl1 |
A |
G |
3: 102,091,607 (GRCm39) |
F160L |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,813,317 (GRCm39) |
S3289G |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,855,673 (GRCm39) |
F647S |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,498,907 (GRCm39) |
L509P |
probably damaging |
Het |
Zcchc2 |
A |
G |
1: 105,955,229 (GRCm39) |
E640G |
probably damaging |
Het |
Zfp563 |
T |
A |
17: 33,324,383 (GRCm39) |
I326N |
probably benign |
Het |
|
Other mutations in Rcbtb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-05-07 |