Incidental Mutation 'R4674:Sf3b3'
ID |
348712 |
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 |
041929-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R4674 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 111571137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 10
(R10W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034203]
[ENSMUST00000042012]
[ENSMUST00000165867]
[ENSMUST00000172668]
[ENSMUST00000172897]
[ENSMUST00000174165]
[ENSMUST00000174723]
[ENSMUST00000174398]
|
AlphaFold |
Q921M3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034203
|
SMART Domains |
Protein: ENSMUSP00000034203 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
77 |
N/A |
INTRINSIC |
Blast:Cog4
|
81 |
178 |
1e-53 |
BLAST |
Cog4
|
188 |
498 |
1.81e-140 |
SMART |
Pfam:RINT1_TIP1
|
536 |
773 |
3.1e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042012
AA Change: R10W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045073 Gene: ENSMUSG00000033732 AA Change: R10W
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: ENSMUST00000116868
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165867
|
SMART Domains |
Protein: ENSMUSP00000128518 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
Blast:Cog4
|
8 |
105 |
6e-54 |
BLAST |
Cog4
|
115 |
425 |
1.81e-140 |
SMART |
PDB:3HR0|B
|
452 |
712 |
1e-174 |
PDB |
Blast:DIL
|
621 |
702 |
6e-38 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172668
|
SMART Domains |
Protein: ENSMUSP00000134252 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
77 |
N/A |
INTRINSIC |
Blast:Cog4
|
81 |
117 |
1e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172897
|
SMART Domains |
Protein: ENSMUSP00000133583 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174165
|
SMART Domains |
Protein: ENSMUSP00000134306 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212613
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174800
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212515
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174702
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174723
|
SMART Domains |
Protein: ENSMUSP00000133471 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
coiled coil region
|
34 |
77 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174398
|
SMART Domains |
Protein: ENSMUSP00000133297 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
coiled coil region
|
33 |
76 |
N/A |
INTRINSIC |
Blast:Cog4
|
80 |
177 |
9e-54 |
BLAST |
Cog4
|
187 |
497 |
1.81e-140 |
SMART |
PDB:3HR0|B
|
524 |
763 |
1e-153 |
PDB |
Blast:DIL
|
672 |
753 |
7e-38 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,860,615 (GRCm39) |
I112T |
probably benign |
Het |
Acvr1b |
T |
C |
15: 101,100,939 (GRCm39) |
I367T |
possibly damaging |
Het |
Akr1b8 |
G |
A |
6: 34,333,359 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
C |
3: 88,979,783 (GRCm39) |
V2769A |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,795 (GRCm39) |
D928V |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,085,223 (GRCm39) |
V66E |
possibly damaging |
Het |
Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
Cbx2 |
T |
A |
11: 118,919,935 (GRCm39) |
I500N |
probably damaging |
Het |
Ccdc82 |
A |
T |
9: 13,252,260 (GRCm39) |
H184L |
probably benign |
Het |
Cd84 |
A |
T |
1: 171,700,887 (GRCm39) |
H216L |
possibly damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,410 (GRCm39) |
T36A |
probably benign |
Het |
Cebpd |
A |
G |
16: 15,705,385 (GRCm39) |
D66G |
probably damaging |
Het |
Clec1b |
C |
A |
6: 129,377,097 (GRCm39) |
L47I |
probably damaging |
Het |
Cracr2b |
A |
G |
7: 141,043,451 (GRCm39) |
D43G |
probably damaging |
Het |
Crbn |
T |
A |
6: 106,767,932 (GRCm39) |
Q173L |
possibly damaging |
Het |
Cspg4 |
T |
C |
9: 56,805,489 (GRCm39) |
V2100A |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,324,345 (GRCm39) |
L374P |
probably damaging |
Het |
Dhx16 |
T |
A |
17: 36,196,831 (GRCm39) |
V607E |
probably damaging |
Het |
Dido1 |
A |
G |
2: 180,329,352 (GRCm39) |
S357P |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,169,405 (GRCm39) |
I399F |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,584,337 (GRCm39) |
E123G |
possibly damaging |
Het |
Dstyk |
A |
G |
1: 132,391,128 (GRCm39) |
D843G |
probably benign |
Het |
Efcab12 |
C |
A |
6: 115,800,610 (GRCm39) |
V138F |
probably damaging |
Het |
Egf |
A |
G |
3: 129,511,689 (GRCm39) |
F493L |
probably damaging |
Het |
Ephx1 |
A |
G |
1: 180,822,256 (GRCm39) |
F220S |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,597,530 (GRCm39) |
F644L |
probably damaging |
Het |
F13b |
A |
G |
1: 139,429,542 (GRCm39) |
Y20C |
unknown |
Het |
Fam184b |
T |
A |
5: 45,740,230 (GRCm39) |
K319* |
probably null |
Het |
Flrt2 |
T |
A |
12: 95,747,462 (GRCm39) |
L600* |
probably null |
Het |
Gbgt1 |
T |
C |
2: 28,388,453 (GRCm39) |
F46S |
possibly damaging |
Het |
Gli2 |
T |
C |
1: 118,763,759 (GRCm39) |
E1464G |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,423,959 (GRCm39) |
V501A |
possibly damaging |
Het |
Heca |
T |
C |
10: 17,791,057 (GRCm39) |
H333R |
probably benign |
Het |
Hirip3 |
G |
A |
7: 126,463,834 (GRCm39) |
|
probably null |
Het |
Igsf8 |
G |
A |
1: 172,146,479 (GRCm39) |
W51* |
probably null |
Het |
Kif21a |
C |
A |
15: 90,824,748 (GRCm39) |
R1342L |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,710,510 (GRCm39) |
N75D |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,366,190 (GRCm39) |
Y1292F |
probably benign |
Het |
Macroh2a1 |
A |
C |
13: 56,230,997 (GRCm39) |
C297G |
possibly damaging |
Het |
Mapk14 |
A |
G |
17: 28,963,996 (GRCm39) |
|
probably null |
Het |
Mgat5 |
T |
A |
1: 127,318,495 (GRCm39) |
V330D |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naip1 |
A |
T |
13: 100,580,682 (GRCm39) |
F188L |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,901,731 (GRCm39) |
S1035P |
probably benign |
Het |
Ndn |
T |
A |
7: 61,998,570 (GRCm39) |
W139R |
probably damaging |
Het |
Nes |
T |
C |
3: 87,879,102 (GRCm39) |
V198A |
possibly damaging |
Het |
Or4c107 |
G |
T |
2: 88,789,216 (GRCm39) |
M135I |
probably damaging |
Het |
Or4c35 |
A |
G |
2: 89,808,250 (GRCm39) |
I43V |
possibly damaging |
Het |
Or51ab3 |
T |
G |
7: 103,201,183 (GRCm39) |
L64V |
probably damaging |
Het |
Or52p1 |
T |
A |
7: 104,267,631 (GRCm39) |
C248* |
probably null |
Het |
Or5b111 |
T |
A |
19: 13,291,178 (GRCm39) |
H157L |
probably benign |
Het |
Or5p72 |
T |
C |
7: 108,022,309 (GRCm39) |
V177A |
possibly damaging |
Het |
Pcf11 |
G |
A |
7: 92,308,985 (GRCm39) |
|
probably benign |
Het |
Pde1a |
TCC |
TC |
2: 79,728,525 (GRCm39) |
|
probably benign |
Het |
Pipox |
T |
G |
11: 77,784,596 (GRCm39) |
Q4P |
probably benign |
Het |
Pla2g4c |
C |
T |
7: 13,077,439 (GRCm39) |
T327I |
probably null |
Het |
Plppr1 |
C |
T |
4: 49,323,384 (GRCm39) |
R225W |
probably damaging |
Het |
Pnpla6 |
T |
A |
8: 3,571,412 (GRCm39) |
V145D |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,942,329 (GRCm39) |
Y83H |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,996,954 (GRCm39) |
L970Q |
probably null |
Het |
Rimklb |
C |
A |
6: 122,433,242 (GRCm39) |
E303* |
probably null |
Het |
Rpl13a |
A |
T |
7: 44,776,242 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
A |
18: 89,029,135 (GRCm39) |
|
probably null |
Het |
Skint4 |
G |
A |
4: 111,975,430 (GRCm39) |
C130Y |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,674,070 (GRCm39) |
S593P |
possibly damaging |
Het |
Ssb |
A |
G |
2: 69,699,194 (GRCm39) |
Q209R |
probably benign |
Het |
Stap1 |
A |
T |
5: 86,229,044 (GRCm39) |
I71L |
probably benign |
Het |
Syna |
C |
A |
5: 134,587,209 (GRCm39) |
R580L |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,226,591 (GRCm39) |
M1111K |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,758,306 (GRCm39) |
L689P |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,623,686 (GRCm39) |
E1406G |
possibly damaging |
Het |
Tcstv7b |
T |
C |
13: 120,702,362 (GRCm39) |
W53R |
probably damaging |
Het |
Tdrd5 |
A |
C |
1: 156,105,005 (GRCm39) |
C463W |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,674,627 (GRCm39) |
F1150L |
probably damaging |
Het |
Tia1 |
T |
A |
6: 86,397,382 (GRCm39) |
F118L |
probably damaging |
Het |
Trav3-1 |
A |
T |
14: 52,818,460 (GRCm39) |
T45S |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,761,711 (GRCm39) |
Y235F |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,415,827 (GRCm39) |
N44S |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,525,255 (GRCm39) |
H304Q |
probably benign |
Het |
Wdr18 |
A |
G |
10: 79,801,069 (GRCm39) |
I161V |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,826,399 (GRCm39) |
H789R |
probably damaging |
Het |
Zfp873 |
A |
G |
10: 81,895,814 (GRCm39) |
T182A |
possibly damaging |
Het |
Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,824,980 (GRCm39) |
D167E |
possibly 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 |
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 |
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'- ATACGCCCCTGAAACTGAGTG -3'
(R):5'- ACGTCGAGAAAGCACTCTTAGC -3'
Sequencing Primer
(F):5'- ACTGAGTGACAGATAATACAC -3'
(R):5'- AGAAAGCACTCTTAGCTCTGCCTG -3'
|
Posted On |
2015-10-08 |