Incidental Mutation 'IGL03366:Sf3b3'
| ID |
420092 |
| 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 # |
IGL03366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 111566586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 248
(V248G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
| AlphaFold |
Q921M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042012
AA Change: V248G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: V248G
| 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: ENSMUST00000116746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212613
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,209,186 (GRCm39) |
S793T |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,153 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,347,977 (GRCm39) |
D704Y |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,829 (GRCm39) |
S299P |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,244,060 (GRCm39) |
I371T |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,882,632 (GRCm39) |
F384I |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,187,301 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
G |
T |
13: 14,552,382 (GRCm39) |
D72E |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,064,924 (GRCm39) |
W3046R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,993,995 (GRCm39) |
N10Y |
unknown |
Het |
| Ighv8-8 |
T |
A |
12: 115,257,760 (GRCm39) |
T94S |
probably benign |
Het |
| Igkv4-58 |
A |
G |
6: 69,477,538 (GRCm39) |
S20P |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,919 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,918,099 (GRCm39) |
S403T |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,612,446 (GRCm39) |
L616P |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,325,491 (GRCm39) |
L440P |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,594,678 (GRCm39) |
L755P |
probably damaging |
Het |
| Magee2 |
C |
A |
X: 103,899,134 (GRCm39) |
E506* |
probably null |
Het |
| Mast3 |
G |
A |
8: 71,234,207 (GRCm39) |
R143* |
probably null |
Het |
| Med12 |
T |
A |
X: 100,321,695 (GRCm39) |
H459Q |
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,450,149 (GRCm39) |
S294P |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,349 (GRCm39) |
Y714C |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,074,349 (GRCm39) |
L662S |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,791,542 (GRCm39) |
C567F |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,200,256 (GRCm39) |
I20T |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,587 (GRCm39) |
D65V |
possibly damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,665 (GRCm39) |
T487A |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,667,467 (GRCm39) |
E1332G |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,125,481 (GRCm39) |
S113P |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,507,178 (GRCm39) |
E1023G |
probably damaging |
Het |
| Rspry1 |
A |
C |
8: 95,376,962 (GRCm39) |
I382L |
probably benign |
Het |
| Smg5 |
T |
A |
3: 88,253,759 (GRCm39) |
Y126* |
probably null |
Het |
| Spin1 |
T |
C |
13: 51,281,973 (GRCm39) |
V22A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,872,220 (GRCm39) |
R1189Q |
possibly damaging |
Het |
| Sytl5 |
A |
G |
X: 9,829,939 (GRCm39) |
D538G |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,813 (GRCm39) |
M101K |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,576,847 (GRCm39) |
V578A |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,344,517 (GRCm39) |
C383F |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
T |
C |
17: 20,249,866 (GRCm39) |
T802A |
probably damaging |
Het |
| Vmn2r32 |
A |
C |
7: 7,467,029 (GRCm39) |
I833S |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,328 (GRCm39) |
D137G |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,853,308 (GRCm39) |
S2467L |
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 |
|
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 |
Incidental Mutation