Incidental Mutation 'IGL02833:Sf3b3'
| ID |
361552 |
| 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 # |
IGL02833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 111538609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
| AlphaFold |
Q921M3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042012
|
| SMART Domains |
Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,289,371 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
T |
9: 95,744,905 (GRCm39) |
H74L |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,465,255 (GRCm39) |
H1673L |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,853,771 (GRCm39) |
I495K |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 135,998,743 (GRCm39) |
I213F |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,962,332 (GRCm39) |
S316P |
possibly damaging |
Het |
| Ces1b |
G |
A |
8: 93,806,038 (GRCm39) |
P68S |
probably damaging |
Het |
| Cilp |
A |
G |
9: 65,185,206 (GRCm39) |
I434V |
probably benign |
Het |
| Csgalnact2 |
A |
G |
6: 118,106,229 (GRCm39) |
Y30H |
probably damaging |
Het |
| Defb7 |
T |
C |
8: 19,545,140 (GRCm39) |
V6A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 92,080,335 (GRCm39) |
L841F |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,642,468 (GRCm39) |
N130S |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,833,732 (GRCm39) |
D1863V |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,376,897 (GRCm39) |
R1561G |
possibly damaging |
Het |
| Fads2b |
G |
T |
2: 85,332,551 (GRCm39) |
R158S |
possibly damaging |
Het |
| Gstt4 |
G |
T |
10: 75,658,174 (GRCm39) |
F28L |
probably damaging |
Het |
| Hectd1 |
G |
T |
12: 51,810,864 (GRCm39) |
D1690E |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,282,441 (GRCm39) |
S3394P |
probably benign |
Het |
| Ift25 |
T |
C |
4: 107,132,492 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,911,610 (GRCm39) |
C1910S |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,708,516 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
T |
7: 125,449,584 (GRCm39) |
R883* |
probably null |
Het |
| Kif1b |
C |
T |
4: 149,330,821 (GRCm39) |
V612M |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,709 (GRCm39) |
E338G |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,791,723 (GRCm39) |
D205E |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,735,270 (GRCm39) |
H750L |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,436,121 (GRCm39) |
S801P |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,051,998 (GRCm39) |
M980K |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,146,831 (GRCm39) |
V314I |
probably benign |
Het |
| Or2y3 |
T |
C |
17: 38,393,243 (GRCm39) |
K209E |
possibly damaging |
Het |
| Or5d43 |
C |
A |
2: 88,104,776 (GRCm39) |
V206F |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,619 (GRCm39) |
T32A |
probably benign |
Het |
| Pdk1 |
A |
G |
2: 71,727,989 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,500 (GRCm39) |
S125P |
probably damaging |
Het |
| Pigu |
T |
C |
2: 155,187,565 (GRCm39) |
|
probably benign |
Het |
| Prr16 |
T |
A |
18: 51,436,164 (GRCm39) |
H214Q |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,800,715 (GRCm39) |
|
probably benign |
Het |
| Sp4 |
T |
C |
12: 118,225,616 (GRCm39) |
I583V |
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,234,569 (GRCm39) |
T224A |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tmem119 |
T |
A |
5: 113,933,432 (GRCm39) |
Y123F |
probably damaging |
Het |
| Umps |
A |
T |
16: 33,782,523 (GRCm39) |
L133* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,177,343 (GRCm39) |
T179S |
probably benign |
Het |
| Vtcn1 |
T |
A |
3: 100,795,701 (GRCm39) |
Y223N |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,853 (GRCm39) |
M567T |
probably damaging |
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 |
|
|
IGL03033:Sf3b3
|
APN |
8 |
111,537,596 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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 |
2015-12-18 |
Incidental Mutation