Incidental Mutation 'R3615:Sf3b3'
| ID |
268435 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3615 (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 111571155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 4
(Y4H)
|
| 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: Y4H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: Y4H
| 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: ENSMUST00000174800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212515
|
| 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 |
|
| Meta Mutation Damage Score |
0.9295 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (40/41) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,257 (GRCm39) |
T818A |
probably benign |
Het |
| Aasdh |
A |
G |
5: 77,036,629 (GRCm39) |
V304A |
probably benign |
Het |
| Angptl3 |
G |
A |
4: 98,922,702 (GRCm39) |
A248T |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,215,391 (GRCm39) |
C112S |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,967,368 (GRCm39) |
I549N |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,801,562 (GRCm39) |
D161N |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,942 (GRCm39) |
V821A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,037,105 (GRCm39) |
L247P |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,071,819 (GRCm39) |
H107L |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,757,426 (GRCm39) |
L869S |
probably damaging |
Het |
| Efs |
T |
C |
14: 55,157,552 (GRCm39) |
Y160C |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,652,306 (GRCm39) |
N1197Y |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,740,157 (GRCm39) |
V343A |
possibly damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,572,828 (GRCm39) |
Y105* |
probably null |
Het |
| Fiz1 |
A |
G |
7: 5,011,171 (GRCm39) |
L449P |
probably benign |
Het |
| Foxi2 |
T |
A |
7: 135,012,180 (GRCm39) |
C23S |
possibly damaging |
Het |
| Gdf2 |
G |
A |
14: 33,666,914 (GRCm39) |
R212Q |
probably damaging |
Het |
| Gm5105 |
C |
A |
3: 137,755,449 (GRCm39) |
A46S |
unknown |
Het |
| Grik5 |
C |
T |
7: 24,721,996 (GRCm39) |
A581T |
probably benign |
Het |
| Gse1 |
C |
G |
8: 121,299,481 (GRCm39) |
|
probably benign |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Krt25 |
A |
C |
11: 99,208,124 (GRCm39) |
V368G |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,126,896 (GRCm39) |
K417E |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,950,371 (GRCm39) |
M75T |
probably benign |
Het |
| Nlrp10 |
A |
G |
7: 108,523,683 (GRCm39) |
F599S |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,289,205 (GRCm39) |
M436L |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,753 (GRCm39) |
E193G |
possibly damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
| Pla2g2e |
G |
A |
4: 138,607,685 (GRCm39) |
V22I |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,764,044 (GRCm39) |
E202G |
probably damaging |
Het |
| Prss21 |
A |
G |
17: 24,091,805 (GRCm39) |
T258A |
probably benign |
Het |
| Prss34 |
A |
G |
17: 25,517,820 (GRCm39) |
E65G |
probably benign |
Het |
| Psap |
A |
G |
10: 60,130,383 (GRCm39) |
N149S |
probably benign |
Het |
| Ptprf |
C |
T |
4: 118,095,080 (GRCm39) |
A275T |
probably benign |
Het |
| Sem1 |
A |
G |
6: 6,578,520 (GRCm39) |
L12P |
probably damaging |
Het |
| Sh3bp4 |
G |
T |
1: 89,065,427 (GRCm39) |
R7L |
probably damaging |
Het |
| Slc16a1 |
T |
A |
3: 104,560,886 (GRCm39) |
L397Q |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,656 (GRCm39) |
D792G |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,864 (GRCm39) |
N399S |
probably benign |
Het |
| Tas2r102 |
C |
T |
6: 132,739,781 (GRCm39) |
Q230* |
probably null |
Het |
| Tdo2 |
A |
G |
3: 81,882,735 (GRCm39) |
Y13H |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 112,644,945 (GRCm39) |
R187H |
possibly damaging |
Het |
| Tmem30b |
A |
G |
12: 73,592,353 (GRCm39) |
M254T |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,893,318 (GRCm39) |
G1057R |
probably damaging |
Het |
| Tusc3 |
A |
T |
8: 39,617,879 (GRCm39) |
K347N |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
| Vash2 |
T |
C |
1: 190,702,616 (GRCm39) |
Y117C |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,439,866 (GRCm39) |
I235T |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,760,373 (GRCm39) |
T420A |
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 |
|
|
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 |
|
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'- AAGATACGCCCCTGAAACTGAG -3'
(R):5'- CGAGAAAGCACTCTTAGCTCTG -3'
Sequencing Primer
(F):5'- TACACGAGAATTTAACACAAACCC -3'
(R):5'- CTGCCTGTTCTGATTTCAACAAGAAG -3'
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| Posted On |
2015-02-19 |
Incidental Mutation