Incidental Mutation 'R0370:Sf3b2'
ID |
65601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sf3b2
|
Ensembl Gene |
ENSMUSG00000024853 |
Gene Name |
splicing factor 3b, subunit 2 |
Synonyms |
B230398H18Rik, SAP145, 2610311M13Rik, SF3b1, SF3b145, 2810441F20Rik, SF3b150, 145kDa |
MMRRC Submission |
038576-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R0370 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
5323960-5345483 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5324852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 845
(D845N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025774]
[ENSMUST00000025786]
|
AlphaFold |
Q3UJB0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025774
AA Change: D845N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025774 Gene: ENSMUSG00000024853 AA Change: D845N
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
SAP
|
24 |
58 |
1.84e-4 |
SMART |
low complexity region
|
91 |
132 |
N/A |
INTRINSIC |
coiled coil region
|
140 |
178 |
N/A |
INTRINSIC |
low complexity region
|
201 |
221 |
N/A |
INTRINSIC |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
low complexity region
|
264 |
280 |
N/A |
INTRINSIC |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
low complexity region
|
383 |
397 |
N/A |
INTRINSIC |
low complexity region
|
408 |
437 |
N/A |
INTRINSIC |
Pfam:DUF382
|
453 |
579 |
2.9e-63 |
PFAM |
PSP
|
584 |
642 |
9.41e-33 |
SMART |
low complexity region
|
693 |
717 |
N/A |
INTRINSIC |
low complexity region
|
745 |
756 |
N/A |
INTRINSIC |
low complexity region
|
807 |
818 |
N/A |
INTRINSIC |
low complexity region
|
851 |
862 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025786
|
SMART Domains |
Protein: ENSMUSP00000025786 Gene: ENSMUSG00000024855
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
low complexity region
|
51 |
97 |
N/A |
INTRINSIC |
low complexity region
|
276 |
290 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
Pfam:Pacs-1
|
546 |
958 |
2e-193 |
PFAM |
|
Meta Mutation Damage Score |
0.2173 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l1 |
T |
C |
8: 124,228,293 (GRCm39) |
S666P |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,514,980 (GRCm39) |
W263R |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,732,899 (GRCm39) |
N270S |
possibly damaging |
Het |
Ctdp1 |
T |
C |
18: 80,492,569 (GRCm39) |
E642G |
probably damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,909,531 (GRCm39) |
K433M |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,721,056 (GRCm39) |
V435A |
possibly damaging |
Het |
Defa26 |
A |
T |
8: 22,108,875 (GRCm39) |
M87L |
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,958,962 (GRCm39) |
I2974L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,685,943 (GRCm39) |
D131G |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,725,861 (GRCm39) |
S1447R |
probably benign |
Het |
Dtl |
G |
T |
1: 191,307,462 (GRCm39) |
N17K |
probably benign |
Het |
Grid2 |
A |
G |
6: 64,322,718 (GRCm39) |
I573V |
possibly damaging |
Het |
Hoxa9 |
T |
C |
6: 52,202,684 (GRCm39) |
E134G |
possibly damaging |
Het |
Kcnn3 |
A |
T |
3: 89,574,399 (GRCm39) |
N637I |
probably damaging |
Het |
Ktn1 |
T |
C |
14: 47,901,532 (GRCm39) |
F97L |
probably benign |
Het |
Lmbrd2 |
T |
C |
15: 9,165,939 (GRCm39) |
I271T |
probably damaging |
Het |
Lrp6 |
A |
C |
6: 134,456,729 (GRCm39) |
I845S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,879,891 (GRCm39) |
N994K |
probably benign |
Het |
Mrrf |
A |
T |
2: 36,067,125 (GRCm39) |
|
probably null |
Het |
Mtmr1 |
G |
A |
X: 70,431,837 (GRCm39) |
V125I |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,057 (GRCm39) |
N88I |
probably benign |
Het |
Or51k1 |
T |
G |
7: 103,661,266 (GRCm39) |
L214F |
probably damaging |
Het |
Or8k3 |
A |
T |
2: 86,059,057 (GRCm39) |
V86D |
probably damaging |
Het |
Paxip1 |
C |
A |
5: 27,965,084 (GRCm39) |
V659F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,571,104 (GRCm39) |
V163A |
probably damaging |
Het |
Pkn3 |
T |
A |
2: 29,977,184 (GRCm39) |
H641Q |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,347,623 (GRCm39) |
R444C |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,106,308 (GRCm39) |
E175G |
probably benign |
Het |
Samd9l |
A |
C |
6: 3,377,264 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
T |
16: 4,998,570 (GRCm39) |
T537S |
probably damaging |
Het |
Serpinb9d |
A |
G |
13: 33,379,949 (GRCm39) |
E96G |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,388,006 (GRCm39) |
E160G |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,413 (GRCm39) |
I308V |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,339,644 (GRCm39) |
N100Y |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,545 (GRCm39) |
S1475R |
probably benign |
Het |
Tecta |
T |
C |
9: 42,278,100 (GRCm39) |
D1136G |
probably benign |
Het |
Tmem94 |
G |
C |
11: 115,679,543 (GRCm39) |
R273S |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,395,730 (GRCm39) |
S1225P |
possibly damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,239,834 (GRCm39) |
Y184H |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,662,150 (GRCm39) |
M555K |
probably benign |
Het |
|
Other mutations in Sf3b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Sf3b2
|
APN |
19 |
5,329,615 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01737:Sf3b2
|
APN |
19 |
5,329,866 (GRCm39) |
splice site |
probably benign |
|
IGL02205:Sf3b2
|
APN |
19 |
5,333,765 (GRCm39) |
missense |
probably benign |
0.01 |
R0184:Sf3b2
|
UTSW |
19 |
5,333,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R0371:Sf3b2
|
UTSW |
19 |
5,324,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Sf3b2
|
UTSW |
19 |
5,324,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0373:Sf3b2
|
UTSW |
19 |
5,324,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0375:Sf3b2
|
UTSW |
19 |
5,324,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R1606:Sf3b2
|
UTSW |
19 |
5,338,026 (GRCm39) |
missense |
probably benign |
0.00 |
R1609:Sf3b2
|
UTSW |
19 |
5,345,061 (GRCm39) |
unclassified |
probably benign |
|
R2566:Sf3b2
|
UTSW |
19 |
5,325,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5163:Sf3b2
|
UTSW |
19 |
5,325,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R6208:Sf3b2
|
UTSW |
19 |
5,325,126 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6275:Sf3b2
|
UTSW |
19 |
5,333,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R6644:Sf3b2
|
UTSW |
19 |
5,329,992 (GRCm39) |
splice site |
probably null |
|
R6986:Sf3b2
|
UTSW |
19 |
5,329,923 (GRCm39) |
missense |
probably benign |
|
R7007:Sf3b2
|
UTSW |
19 |
5,324,545 (GRCm39) |
missense |
probably benign |
0.13 |
R8428:Sf3b2
|
UTSW |
19 |
5,337,242 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8677:Sf3b2
|
UTSW |
19 |
5,336,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R9041:Sf3b2
|
UTSW |
19 |
5,324,872 (GRCm39) |
missense |
possibly damaging |
0.47 |
Z1177:Sf3b2
|
UTSW |
19 |
5,324,978 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
|
Posted On |
2013-08-08 |