Incidental Mutation 'R7523:Sf3b3'
| ID |
582789 |
| 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 |
045595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7523 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111540352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1023
(I1023T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
| AlphaFold |
Q921M3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042012
AA Change: I1023T
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: I1023T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,824 (GRCm39) |
H40Q |
unknown |
Het |
| 4932414N04Rik |
A |
T |
2: 68,569,673 (GRCm39) |
Q463L |
probably benign |
Het |
| Ano4 |
C |
A |
10: 88,807,257 (GRCm39) |
E775* |
probably null |
Het |
| Atp12a |
T |
C |
14: 56,603,425 (GRCm39) |
V10A |
possibly damaging |
Het |
| Camkmt |
A |
G |
17: 85,699,056 (GRCm39) |
I144M |
probably benign |
Het |
| Ciao2b |
G |
A |
8: 105,368,404 (GRCm39) |
|
probably benign |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
| Dazl |
G |
A |
17: 50,594,569 (GRCm39) |
T162I |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,824,803 (GRCm39) |
K653R |
probably damaging |
Het |
| Exosc10 |
A |
T |
4: 148,648,299 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,199,152 (GRCm39) |
D1372G |
probably benign |
Het |
| Fxr1 |
T |
C |
3: 34,093,692 (GRCm39) |
V23A |
probably benign |
Het |
| Gmps |
T |
C |
3: 63,919,087 (GRCm39) |
I557T |
possibly damaging |
Het |
| Ifnab |
A |
T |
4: 88,609,029 (GRCm39) |
Y146N |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,036 (GRCm39) |
Y925C |
not run |
Het |
| Lrp1b |
C |
T |
2: 41,401,473 (GRCm39) |
V394M |
|
Het |
| Ltbp2 |
T |
C |
12: 84,837,808 (GRCm39) |
T1211A |
probably benign |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,667,270 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
T |
11: 115,781,684 (GRCm39) |
I2798F |
unknown |
Het |
| Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
| Nectin2 |
A |
G |
7: 19,464,037 (GRCm39) |
V314A |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
| Or2c1 |
T |
C |
16: 3,657,563 (GRCm39) |
V242A |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,389 (GRCm39) |
K236E |
probably damaging |
Het |
| Pdcd4 |
G |
T |
19: 53,899,379 (GRCm39) |
V123F |
probably damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,426,708 (GRCm39) |
R275W |
probably damaging |
Het |
| Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
| Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,546,159 (GRCm39) |
V11A |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,130 (GRCm38) |
I1383S |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,257,288 (GRCm39) |
E411G |
probably null |
Het |
| Stard9 |
T |
C |
2: 120,530,078 (GRCm39) |
Y2112H |
probably benign |
Het |
| Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,969,408 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,063,655 (GRCm39) |
S199R |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,586,783 (GRCm39) |
I399T |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,004,299 (GRCm39) |
N1344S |
|
Het |
| Vmn2r114 |
A |
G |
17: 23,529,611 (GRCm39) |
F164L |
probably benign |
Het |
| Vps13a |
G |
T |
19: 16,681,153 (GRCm39) |
T1041K |
probably benign |
Het |
| Zbtb20 |
T |
C |
16: 43,430,875 (GRCm39) |
V389A |
probably benign |
Het |
| Zfp811 |
A |
T |
17: 33,016,726 (GRCm39) |
I438N |
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,545 (GRCm39) |
D86G |
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 |
|
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 |
|
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'- TCCAAGAGAGGTTAGATGCCTTG -3'
(R):5'- AGCTGGGCTTTTAGATTCTGAATTC -3'
Sequencing Primer
(F):5'- GAGGTTAGATGCCTTGAACATAAG -3'
(R):5'- GATTCTGAATTCAGGGATCACAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation