Incidental Mutation 'R3236:Sf3b3'
ID |
259030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sf3b3
|
Ensembl Gene |
ENSMUSG00000033732 |
Gene Name |
splicing factor 3b, subunit 3 |
Synonyms |
SAP130, 5730409A01Rik, 1810061H24Rik, D8Ertd633e, RSE1 |
MMRRC Submission |
040618-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R3236 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111538652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1123
(S1123P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
AlphaFold |
Q921M3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042012
AA Change: S1123P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045073 Gene: ENSMUSG00000033732 AA Change: S1123P
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
|
Meta Mutation Damage Score |
0.5351 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (64/65) |
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: 63 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 |
5730455P16Rik |
G |
A |
11: 80,258,996 (GRCm39) |
L255F |
probably damaging |
Het |
Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
Agbl3 |
A |
G |
6: 34,800,022 (GRCm39) |
|
probably null |
Het |
Armh3 |
A |
T |
19: 45,963,722 (GRCm39) |
|
probably benign |
Het |
Atm |
T |
A |
9: 53,391,048 (GRCm39) |
D1842V |
probably benign |
Het |
Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,397,995 (GRCm39) |
T243A |
possibly damaging |
Het |
Col5a3 |
G |
T |
9: 20,718,949 (GRCm39) |
N268K |
unknown |
Het |
Col6a1 |
G |
A |
10: 76,547,154 (GRCm39) |
T737M |
unknown |
Het |
Cyp3a25 |
T |
C |
5: 145,939,938 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
Ecm1 |
G |
T |
3: 95,642,158 (GRCm39) |
Q476K |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,781,097 (GRCm39) |
|
probably null |
Het |
Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
Gm5478 |
A |
G |
15: 101,552,738 (GRCm39) |
Y398H |
probably damaging |
Het |
H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,131,798 (GRCm39) |
|
probably null |
Het |
Kdm6b |
A |
G |
11: 69,297,192 (GRCm39) |
Y387H |
probably damaging |
Het |
Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
Lrig3 |
G |
A |
10: 125,833,056 (GRCm39) |
C310Y |
probably damaging |
Het |
Map6 |
T |
A |
7: 98,986,031 (GRCm39) |
V645E |
probably damaging |
Het |
Memo1 |
A |
T |
17: 74,509,347 (GRCm39) |
I224K |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,633,612 (GRCm39) |
I602T |
probably benign |
Het |
N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
Ndrg3 |
T |
A |
2: 156,785,957 (GRCm39) |
I161F |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,377,435 (GRCm39) |
R214G |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or14j10 |
T |
C |
17: 37,935,127 (GRCm39) |
E133G |
possibly damaging |
Het |
Or4p7 |
T |
C |
2: 88,221,750 (GRCm39) |
I53T |
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,328,597 (GRCm39) |
V243A |
probably damaging |
Het |
Piwil4 |
A |
G |
9: 14,611,544 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pon2 |
A |
T |
6: 5,266,986 (GRCm39) |
N252K |
possibly damaging |
Het |
Ptf1a |
T |
C |
2: 19,450,718 (GRCm39) |
F16S |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,122,293 (GRCm39) |
Y366H |
probably benign |
Het |
Rbfox1 |
G |
A |
16: 7,225,892 (GRCm39) |
V353I |
possibly damaging |
Het |
Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scaf4 |
T |
A |
16: 90,057,105 (GRCm39) |
D82V |
unknown |
Het |
Serhl |
C |
A |
15: 82,988,604 (GRCm39) |
P177Q |
probably damaging |
Het |
Setdb1 |
A |
G |
3: 95,246,065 (GRCm39) |
V619A |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,668,607 (GRCm39) |
I453V |
probably damaging |
Het |
Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,063,802 (GRCm39) |
D660E |
probably damaging |
Het |
Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
Speer4e1 |
T |
A |
5: 14,984,939 (GRCm39) |
E206D |
possibly damaging |
Het |
Stard6 |
T |
A |
18: 70,633,557 (GRCm39) |
M188K |
probably damaging |
Het |
Stat6 |
G |
A |
10: 127,488,091 (GRCm39) |
V282I |
possibly damaging |
Het |
Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
Thsd4 |
C |
A |
9: 60,301,670 (GRCm39) |
K208N |
probably benign |
Het |
Thsd7b |
C |
T |
1: 130,145,855 (GRCm39) |
Q1588* |
probably null |
Het |
Tmem167 |
C |
T |
13: 90,252,499 (GRCm39) |
R52C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,729,753 (GRCm39) |
|
probably benign |
Het |
Usp39 |
G |
A |
6: 72,315,372 (GRCm39) |
|
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r24 |
C |
T |
6: 123,755,984 (GRCm39) |
Q19* |
probably null |
Het |
Vps13b |
G |
A |
15: 35,910,450 (GRCm39) |
E3405K |
probably benign |
Het |
Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
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 |
|
IGL02833:Sf3b3
|
APN |
8 |
111,538,609 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTGGGGTCATAATACAACC -3'
(R):5'- CCTGGGAGCTCTTAGGGAATAC -3'
Sequencing Primer
(F):5'- CTTCCTAAAAGAACGCAGGATTCTG -3'
(R):5'- CTCTTAGGGAATACAGAAGAGAACTG -3'
|
Posted On |
2015-01-23 |