Incidental Mutation 'R5934:Sf3b3'
ID |
462108 |
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 |
044128-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R5934 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111550102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 639
(S639P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
AlphaFold |
Q921M3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042012
AA Change: S639P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045073 Gene: ENSMUSG00000033732 AA Change: S639P
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: ENSMUST00000212515
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,980,806 (GRCm39) |
V596A |
probably benign |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Afg1l |
G |
A |
10: 42,194,682 (GRCm39) |
T370M |
probably damaging |
Het |
Aldh2 |
T |
C |
5: 121,717,678 (GRCm39) |
T118A |
probably benign |
Het |
Apcdd1 |
C |
T |
18: 63,084,940 (GRCm39) |
A379V |
possibly damaging |
Het |
Atp1a3 |
T |
C |
7: 24,678,299 (GRCm39) |
|
probably benign |
Het |
Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
Cd96 |
G |
T |
16: 45,938,266 (GRCm39) |
D66E |
probably benign |
Het |
Cdh5 |
T |
A |
8: 104,864,900 (GRCm39) |
V506E |
probably benign |
Het |
Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
Ckb |
A |
T |
12: 111,636,663 (GRCm39) |
V237D |
probably damaging |
Het |
Col6a6 |
C |
T |
9: 105,644,274 (GRCm39) |
D1306N |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,243,140 (GRCm39) |
S19P |
probably damaging |
Het |
Dnah17 |
G |
T |
11: 117,931,928 (GRCm39) |
D3681E |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,424,495 (GRCm39) |
Y2068* |
probably null |
Het |
Fryl |
T |
C |
5: 73,248,060 (GRCm39) |
Y1019C |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,817,092 (GRCm39) |
C4275Y |
possibly damaging |
Het |
Gapdh |
A |
G |
6: 125,139,664 (GRCm39) |
V202A |
probably damaging |
Het |
Gmeb2 |
T |
C |
2: 180,897,367 (GRCm39) |
I250M |
possibly damaging |
Het |
Gpr88 |
C |
T |
3: 116,045,958 (GRCm39) |
G118R |
probably damaging |
Het |
Hdhd3 |
C |
A |
4: 62,417,607 (GRCm39) |
V190L |
possibly damaging |
Het |
Heg1 |
C |
T |
16: 33,547,289 (GRCm39) |
T461M |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,246,083 (GRCm39) |
Y989C |
probably damaging |
Het |
Ift74 |
A |
T |
4: 94,520,971 (GRCm39) |
M175L |
probably benign |
Het |
Kcnh3 |
G |
A |
15: 99,124,414 (GRCm39) |
R101Q |
possibly damaging |
Het |
Kif20b |
G |
T |
19: 34,918,721 (GRCm39) |
V702F |
probably benign |
Het |
Klhl1 |
A |
G |
14: 96,360,651 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,618,249 (GRCm39) |
V916A |
probably benign |
Het |
Macir |
A |
T |
1: 97,573,655 (GRCm39) |
C137S |
possibly damaging |
Het |
Mpp4 |
A |
T |
1: 59,160,535 (GRCm39) |
D589E |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,979,017 (GRCm39) |
C464R |
probably damaging |
Het |
Mucl2 |
A |
T |
15: 103,927,832 (GRCm39) |
S42T |
probably benign |
Het |
Musk |
T |
A |
4: 58,373,613 (GRCm39) |
L838Q |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,074,510 (GRCm39) |
H1052R |
probably damaging |
Het |
Or10d4b |
C |
T |
9: 39,534,479 (GRCm39) |
T20I |
probably damaging |
Het |
Or10v1 |
A |
G |
19: 11,874,293 (GRCm39) |
R303G |
probably benign |
Het |
Or1j20 |
T |
A |
2: 36,760,280 (GRCm39) |
I234N |
probably benign |
Het |
Or2at1 |
A |
T |
7: 99,416,596 (GRCm39) |
I76F |
probably damaging |
Het |
Or4d2 |
T |
C |
11: 87,784,049 (GRCm39) |
R234G |
possibly damaging |
Het |
Or52e15 |
C |
A |
7: 104,645,385 (GRCm39) |
C242F |
probably damaging |
Het |
Or56a5 |
G |
A |
7: 104,792,867 (GRCm39) |
S211F |
probably benign |
Het |
Or5w8 |
T |
C |
2: 87,687,585 (GRCm39) |
V22A |
probably benign |
Het |
Or8u8 |
T |
A |
2: 86,012,446 (GRCm39) |
Q3L |
probably benign |
Het |
Pard3 |
T |
G |
8: 128,115,819 (GRCm39) |
L636R |
probably damaging |
Het |
Pigr |
A |
T |
1: 130,772,264 (GRCm39) |
S161C |
probably damaging |
Het |
Polr1e |
T |
C |
4: 45,029,369 (GRCm39) |
S325P |
probably damaging |
Het |
Prrc2a |
A |
T |
17: 35,369,060 (GRCm39) |
V1992E |
probably damaging |
Het |
Psma5-ps |
T |
C |
10: 85,150,145 (GRCm39) |
|
noncoding transcript |
Het |
Ptpdc1 |
T |
C |
13: 48,739,845 (GRCm39) |
K468E |
probably benign |
Het |
Rab22a |
A |
G |
2: 173,503,297 (GRCm39) |
T37A |
probably damaging |
Het |
Rai14 |
T |
A |
15: 10,575,245 (GRCm39) |
K571I |
probably damaging |
Het |
Reck |
G |
A |
4: 43,930,979 (GRCm39) |
G660D |
probably damaging |
Het |
Rgs4 |
T |
C |
1: 169,572,807 (GRCm39) |
D43G |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,599,040 (GRCm39) |
D4645E |
probably damaging |
Het |
Slc27a4 |
G |
T |
2: 29,701,672 (GRCm39) |
R430L |
probably damaging |
Het |
Slfn1 |
T |
A |
11: 83,012,770 (GRCm39) |
Y295* |
probably null |
Het |
Slfn5 |
C |
T |
11: 82,847,418 (GRCm39) |
S101L |
probably damaging |
Het |
Sult1d1 |
CCATG |
CCATGGCATG |
5: 87,707,629 (GRCm39) |
|
probably null |
Het |
Tchh |
A |
T |
3: 93,351,419 (GRCm39) |
Q286H |
unknown |
Het |
Tmem184c |
A |
T |
8: 78,331,352 (GRCm39) |
Y172* |
probably null |
Het |
Tsc22d1 |
T |
G |
14: 76,656,266 (GRCm39) |
M833R |
possibly damaging |
Het |
Ugt1a7c |
G |
T |
1: 88,023,601 (GRCm39) |
L253F |
probably damaging |
Het |
Usp19 |
C |
T |
9: 108,369,766 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,355,148 (GRCm39) |
I3303K |
possibly damaging |
Het |
Zfp574 |
G |
A |
7: 24,779,757 (GRCm39) |
A260T |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,880,642 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- TCCCAAGGCGACTATCTAGAAC -3'
(R):5'- GCTCCCCAAAACTTACTCTGAG -3'
Sequencing Primer
(F):5'- GGCGACTATCTAGAACTACAGGC -3'
(R):5'- CCCCAAAACTTACTCTGAGATTTAG -3'
|
Posted On |
2017-02-28 |