Incidental Mutation 'R5163:Sf3b2'
| ID |
397129 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R5163 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5323960-5345483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5325165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 769
(V769A)
|
| 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: V769A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853
AA Change: V769A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
| Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
| Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
| Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
| Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
| Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
| Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
| Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
| Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
| Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
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 |
|
R1609:Sf3b2
|
UTSW |
19 |
5,345,061 (GRCm39) |
unclassified |
probably benign |
|
|
R2566:Sf3b2
|
UTSW |
19 |
5,325,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- GTCCAACTCCAATTCCTCAGGC -3'
(R):5'- CTTATGGGCCTCCTTCAGTG -3'
Sequencing Primer
(F):5'- ACACCTTGCAATTCAGGGG -3'
(R):5'- TTCAGTGGCAGAACCTTCAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation