Incidental Mutation 'IGL00164:Sf3b2'
ID |
720 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sf3b2
|
Ensembl Gene |
ENSMUSG00000024853 |
Gene Name |
splicing factor 3b, subunit 2 |
Synonyms |
B230398H18Rik, SAP145, 2610311M13Rik, SF3b1, SF3b145, 2810441F20Rik, SF3b150, 145kDa |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL00164
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5323960-5345483 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5329615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 687
(D687G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025774]
|
AlphaFold |
Q3UJB0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025774
AA Change: D687G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025774 Gene: ENSMUSG00000024853 AA Change: D687G
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 |
|
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 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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
Other mutations in Sf3b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R0370:Sf3b2
|
UTSW |
19 |
5,324,852 (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 |
|
Posted On |
2011-07-12 |