Incidental Mutation 'R6803:Sf3b3'
| ID |
533441 |
| 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 |
044916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6803 (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 111552210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 545
(V545A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
| AlphaFold |
Q921M3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042012
AA Change: V545A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: V545A
| 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 |
|
| Meta Mutation Damage Score |
0.1166 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
A |
C |
9: 50,700,860 (GRCm39) |
D210A |
probably benign |
Het |
| As3mt |
T |
G |
19: 46,698,020 (GRCm39) |
M120R |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,988,340 (GRCm39) |
S270C |
probably null |
Het |
| Car5a |
A |
C |
8: 122,650,504 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
T |
A |
2: 26,179,791 (GRCm39) |
T223S |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,060 (GRCm39) |
N322S |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,802,279 (GRCm39) |
E2185G |
possibly damaging |
Het |
| Clcnkb |
T |
C |
4: 141,132,639 (GRCm39) |
T597A |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,068,060 (GRCm39) |
Y24C |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,941,479 (GRCm39) |
S817P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,205,793 (GRCm39) |
Y601C |
probably damaging |
Het |
| Cpm |
G |
T |
10: 117,512,002 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
T |
C |
4: 107,769,861 (GRCm39) |
N79S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,198 (GRCm39) |
T314A |
probably benign |
Het |
| Dnm1 |
C |
A |
2: 32,202,766 (GRCm39) |
V46F |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,908,083 (GRCm39) |
V2640M |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,813,617 (GRCm39) |
C296S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,637 (GRCm39) |
T1522A |
probably benign |
Het |
| Foxl2 |
A |
C |
9: 98,837,985 (GRCm39) |
K91T |
probably damaging |
Het |
| Hdac11 |
G |
T |
6: 91,143,247 (GRCm39) |
R131L |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,993,766 (GRCm39) |
I723V |
probably benign |
Het |
| Klhl33 |
A |
G |
14: 51,134,192 (GRCm39) |
L150P |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,647,261 (GRCm39) |
H65R |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,330,685 (GRCm39) |
|
probably null |
Het |
| Ldlrad3 |
T |
C |
2: 101,943,892 (GRCm39) |
D60G |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,097,663 (GRCm39) |
H177Q |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,730 (GRCm39) |
D298G |
probably benign |
Het |
| Npas2 |
A |
C |
1: 39,375,130 (GRCm39) |
S483R |
probably benign |
Het |
| Nrg3 |
C |
A |
14: 38,733,957 (GRCm39) |
E310* |
probably null |
Het |
| Omg |
T |
A |
11: 79,393,094 (GRCm39) |
T255S |
possibly damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,432 (GRCm39) |
L140H |
probably damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,620 (GRCm39) |
D127E |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,626 (GRCm39) |
D578G |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,850,267 (GRCm39) |
K39E |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,089,994 (GRCm39) |
D66G |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,446 (GRCm39) |
I605K |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,970 (GRCm39) |
S593P |
probably damaging |
Het |
| Speer4f1 |
T |
A |
5: 17,684,388 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
C |
11: 69,711,974 (GRCm39) |
E230G |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,258,231 (GRCm39) |
F171L |
probably damaging |
Het |
| Tbc1d13 |
T |
C |
2: 30,025,522 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,994,154 (GRCm39) |
N206K |
probably benign |
Het |
| Trnau1ap |
C |
T |
4: 132,049,081 (GRCm39) |
V41M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,769,387 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,766,368 (GRCm39) |
|
probably null |
Het |
| Uox |
T |
G |
3: 146,318,264 (GRCm39) |
V55G |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,755,960 (GRCm39) |
I11F |
possibly damaging |
Het |
| Wasf2 |
T |
C |
4: 132,922,220 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,240,776 (GRCm39) |
Y488C |
probably damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,454 (GRCm39) |
S726P |
possibly damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,926 (GRCm39) |
C581Y |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,108 (GRCm39) |
C100* |
probably null |
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 |
|
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'- GACACTTCAGAGTCCCAATTCTC -3'
(R):5'- AGCAGTGCCTCATTTGTGTG -3'
Sequencing Primer
(F):5'- CTTGTGAATCCATGCATGCTTAAG -3'
(R):5'- GCCTCATTTGTGTGGTCCCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation