Incidental Mutation 'R1609:Sf3b2'
ID |
176699 |
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 |
039646-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R1609 (G1)
|
Quality Score |
182 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5323960-5345483 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 5345061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025774]
[ENSMUST00000061169]
|
AlphaFold |
Q3UJB0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025774
|
SMART Domains |
Protein: ENSMUSP00000025774 Gene: ENSMUSG00000024853
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: ENSMUST00000061169
|
SMART Domains |
Protein: ENSMUSP00000061517 Gene: ENSMUSG00000047658
Domain | Start | End | E-Value | Type |
Pfam:Gal-3-0_sulfotr
|
1 |
399 |
3.4e-205 |
PFAM |
Pfam:Sulfotransfer_2
|
60 |
298 |
1.9e-7 |
PFAM |
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
Validation Efficiency |
96% (49/51) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
Allc |
A |
T |
12: 28,603,993 (GRCm39) |
D363E |
probably damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
Pnisr |
G |
T |
4: 21,871,440 (GRCm39) |
G387* |
probably null |
Het |
Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
Prkra |
A |
T |
2: 76,463,936 (GRCm39) |
I242N |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
Taf4b |
A |
G |
18: 14,968,938 (GRCm39) |
K692E |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
Zfp277 |
A |
T |
12: 40,378,719 (GRCm39) |
N379K |
probably damaging |
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 |
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 |
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 |
PCR Primer
(F):5'- GGCTTGCTGCGTTGAAGTACAC -3'
(R):5'- AAGTGGAGCTTGGTTACCCAGGAG -3'
Sequencing Primer
(F):5'- ggaaggcaaacgcattagg -3'
(R):5'- TGGTTACCCAGGAGACCCAC -3'
|
Posted On |
2014-04-24 |