Incidental Mutation 'IGL03033:Sf3b3'
ID |
408520 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sf3b3
|
Ensembl Gene |
ENSMUSG00000033732 |
Gene Name |
splicing factor 3b, subunit 3 |
Synonyms |
SAP130, 5730409A01Rik, 1810061H24Rik, D8Ertd633e, RSE1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
IGL03033
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111537596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1211
(I1211V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
AlphaFold |
Q921M3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042012
AA Change: I1211V
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000045073 Gene: ENSMUSG00000033732 AA Change: I1211V
Domain | Start | End | E-Value | Type |
Blast:SH3
|
17 |
70 |
5e-13 |
BLAST |
Pfam:MMS1_N
|
76 |
592 |
3.2e-185 |
PFAM |
low complexity region
|
716 |
728 |
N/A |
INTRINSIC |
Pfam:CPSF_A
|
863 |
1184 |
4.3e-104 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157018
|
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 3 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 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
A |
T |
6: 48,909,452 (GRCm39) |
T566S |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,585,003 (GRCm39) |
T405A |
probably benign |
Het |
Bicd2 |
G |
T |
13: 49,533,396 (GRCm39) |
V587L |
probably benign |
Het |
Bsn |
A |
T |
9: 107,993,192 (GRCm39) |
D853E |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,246,440 (GRCm39) |
N611K |
probably damaging |
Het |
Capn11 |
A |
G |
17: 45,953,473 (GRCm39) |
L227P |
probably damaging |
Het |
Copb2 |
A |
G |
9: 98,452,426 (GRCm39) |
N70S |
probably benign |
Het |
Ddb1 |
T |
C |
19: 10,603,290 (GRCm39) |
V866A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,208,826 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,551 (GRCm39) |
Y117C |
probably damaging |
Het |
Esyt1 |
T |
G |
10: 128,352,252 (GRCm39) |
R758S |
probably benign |
Het |
Gm20441 |
A |
G |
10: 75,607,326 (GRCm39) |
F55S |
probably damaging |
Het |
Gm20547 |
A |
T |
17: 35,078,492 (GRCm39) |
M362K |
probably damaging |
Het |
Gucy1b2 |
A |
G |
14: 62,653,393 (GRCm39) |
V334A |
probably benign |
Het |
Hnrnph3 |
A |
T |
10: 62,853,958 (GRCm39) |
F53L |
probably benign |
Het |
Kcnk18 |
C |
T |
19: 59,223,616 (GRCm39) |
P254S |
probably benign |
Het |
Lrfn5 |
T |
A |
12: 61,886,833 (GRCm39) |
L207Q |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,902,052 (GRCm39) |
M589V |
possibly damaging |
Het |
Nlrp1b |
A |
G |
11: 71,052,665 (GRCm39) |
V918A |
probably benign |
Het |
Nsg2 |
A |
G |
11: 31,951,836 (GRCm39) |
T29A |
probably damaging |
Het |
Or51b4 |
T |
A |
7: 103,530,724 (GRCm39) |
H242L |
probably damaging |
Het |
Pank4 |
C |
T |
4: 155,059,172 (GRCm39) |
T435I |
probably damaging |
Het |
Prom1 |
C |
T |
5: 44,163,502 (GRCm39) |
|
probably null |
Het |
Prr14 |
G |
T |
7: 127,071,135 (GRCm39) |
L3F |
probably damaging |
Het |
Rfx7 |
A |
T |
9: 72,440,271 (GRCm39) |
|
probably benign |
Het |
Rhbdl3 |
A |
G |
11: 80,237,653 (GRCm39) |
N295S |
probably damaging |
Het |
Ripk3 |
A |
G |
14: 56,024,622 (GRCm39) |
|
probably benign |
Het |
Ror1 |
A |
T |
4: 100,269,092 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl23a |
T |
C |
11: 78,072,408 (GRCm39) |
Y74C |
possibly damaging |
Het |
Rtp3 |
A |
T |
9: 110,815,162 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,514,213 (GRCm39) |
N1326K |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,818,018 (GRCm39) |
N253S |
probably damaging |
Het |
Setd2 |
A |
C |
9: 110,380,343 (GRCm39) |
E1386A |
possibly damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,107,549 (GRCm39) |
V187M |
possibly damaging |
Het |
Slc30a6 |
G |
T |
17: 74,716,373 (GRCm39) |
E136* |
probably null |
Het |
Sptan1 |
T |
A |
2: 29,881,045 (GRCm39) |
V438E |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,832,667 (GRCm39) |
|
probably null |
Het |
Sult2a1 |
T |
A |
7: 13,566,635 (GRCm39) |
|
probably benign |
Het |
Tmem198 |
A |
G |
1: 75,459,612 (GRCm39) |
D189G |
possibly damaging |
Het |
Tnfrsf8 |
C |
A |
4: 145,019,219 (GRCm39) |
L205F |
possibly damaging |
Het |
Vmn1r68 |
T |
A |
7: 10,262,074 (GRCm39) |
E8V |
probably damaging |
Het |
Wnk3 |
G |
A |
X: 150,059,924 (GRCm39) |
D742N |
probably damaging |
Het |
Xpc |
A |
T |
6: 91,468,297 (GRCm39) |
|
probably null |
Het |
Zfp113 |
A |
T |
5: 138,149,458 (GRCm39) |
|
probably benign |
Het |
Zfp120 |
A |
T |
2: 149,961,794 (GRCm39) |
D51E |
probably benign |
Het |
Zfp473 |
C |
T |
7: 44,382,522 (GRCm39) |
V603M |
probably benign |
Het |
|
Other mutations in Sf3b3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00489:Sf3b3
|
APN |
8 |
111,540,383 (GRCm39) |
nonsense |
probably null |
|
IGL00770:Sf3b3
|
APN |
8 |
111,544,270 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00774:Sf3b3
|
APN |
8 |
111,544,270 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01132:Sf3b3
|
APN |
8 |
111,569,413 (GRCm39) |
missense |
probably benign |
|
IGL01487:Sf3b3
|
APN |
8 |
111,544,292 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02015:Sf3b3
|
APN |
8 |
111,542,922 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02126:Sf3b3
|
APN |
8 |
111,550,075 (GRCm39) |
missense |
probably benign |
|
IGL02612:Sf3b3
|
APN |
8 |
111,569,608 (GRCm39) |
missense |
probably benign |
|
IGL02833:Sf3b3
|
APN |
8 |
111,538,609 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03366:Sf3b3
|
APN |
8 |
111,566,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0458:Sf3b3
|
UTSW |
8 |
111,538,768 (GRCm39) |
splice site |
probably benign |
|
R0907:Sf3b3
|
UTSW |
8 |
111,538,142 (GRCm39) |
splice site |
probably benign |
|
R1344:Sf3b3
|
UTSW |
8 |
111,564,935 (GRCm39) |
missense |
probably damaging |
0.98 |
R1468:Sf3b3
|
UTSW |
8 |
111,564,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Sf3b3
|
UTSW |
8 |
111,564,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R1736:Sf3b3
|
UTSW |
8 |
111,540,464 (GRCm39) |
missense |
probably benign |
|
R1833:Sf3b3
|
UTSW |
8 |
111,544,198 (GRCm39) |
missense |
probably benign |
|
R2225:Sf3b3
|
UTSW |
8 |
111,541,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R3236:Sf3b3
|
UTSW |
8 |
111,538,652 (GRCm39) |
missense |
probably damaging |
0.99 |
R3615:Sf3b3
|
UTSW |
8 |
111,571,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R3616:Sf3b3
|
UTSW |
8 |
111,571,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R3683:Sf3b3
|
UTSW |
8 |
111,540,253 (GRCm39) |
critical splice donor site |
probably null |
|
R4197:Sf3b3
|
UTSW |
8 |
111,548,197 (GRCm39) |
missense |
probably damaging |
0.98 |
R4429:Sf3b3
|
UTSW |
8 |
111,552,750 (GRCm39) |
missense |
probably benign |
0.01 |
R4674:Sf3b3
|
UTSW |
8 |
111,571,137 (GRCm39) |
missense |
probably damaging |
0.99 |
R4895:Sf3b3
|
UTSW |
8 |
111,542,656 (GRCm39) |
missense |
probably benign |
0.00 |
R4931:Sf3b3
|
UTSW |
8 |
111,542,961 (GRCm39) |
missense |
probably benign |
0.00 |
R4948:Sf3b3
|
UTSW |
8 |
111,540,301 (GRCm39) |
missense |
probably damaging |
0.99 |
R4999:Sf3b3
|
UTSW |
8 |
111,567,835 (GRCm39) |
missense |
probably benign |
0.34 |
R5150:Sf3b3
|
UTSW |
8 |
111,550,008 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5175:Sf3b3
|
UTSW |
8 |
111,560,467 (GRCm39) |
missense |
probably benign |
|
R5559:Sf3b3
|
UTSW |
8 |
111,564,847 (GRCm39) |
missense |
probably benign |
0.00 |
R5866:Sf3b3
|
UTSW |
8 |
111,541,266 (GRCm39) |
missense |
probably benign |
|
R5934:Sf3b3
|
UTSW |
8 |
111,550,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R6270:Sf3b3
|
UTSW |
8 |
111,568,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R6803:Sf3b3
|
UTSW |
8 |
111,552,210 (GRCm39) |
missense |
probably benign |
0.01 |
R7078:Sf3b3
|
UTSW |
8 |
111,539,639 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7252:Sf3b3
|
UTSW |
8 |
111,566,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R7467:Sf3b3
|
UTSW |
8 |
111,538,088 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7523:Sf3b3
|
UTSW |
8 |
111,540,352 (GRCm39) |
missense |
probably benign |
0.35 |
R7544:Sf3b3
|
UTSW |
8 |
111,564,915 (GRCm39) |
missense |
probably benign |
0.01 |
R7638:Sf3b3
|
UTSW |
8 |
111,547,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Sf3b3
|
UTSW |
8 |
111,548,162 (GRCm39) |
missense |
probably benign |
0.05 |
R7973:Sf3b3
|
UTSW |
8 |
111,542,922 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8141:Sf3b3
|
UTSW |
8 |
111,547,483 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8745:Sf3b3
|
UTSW |
8 |
111,550,816 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8914:Sf3b3
|
UTSW |
8 |
111,540,439 (GRCm39) |
missense |
probably benign |
|
R8948:Sf3b3
|
UTSW |
8 |
111,550,075 (GRCm39) |
missense |
probably benign |
|
R9269:Sf3b3
|
UTSW |
8 |
111,538,658 (GRCm39) |
missense |
probably damaging |
0.99 |
R9339:Sf3b3
|
UTSW |
8 |
111,542,854 (GRCm39) |
missense |
probably benign |
|
R9445:Sf3b3
|
UTSW |
8 |
111,552,774 (GRCm39) |
missense |
possibly damaging |
0.54 |
X0024:Sf3b3
|
UTSW |
8 |
111,569,564 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2016-08-02 |