Incidental Mutation 'IGL02205:Sf3b2'
| ID |
284436 |
| 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 # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5323960-5345483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5333765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 611
(V611A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025774]
|
| AlphaFold |
Q3UJB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025774
AA Change: V611A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853
AA Change: V611A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation