Incidental Mutation 'R1736:Sf3b3'
ID |
199721 |
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 |
039768-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R1736 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111540464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 986
(I986V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
AlphaFold |
Q921M3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042012
AA Change: I986V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000045073 Gene: ENSMUSG00000033732 AA Change: I986V
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 |
0.0693 |
Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
Validation Efficiency |
97% (57/59) |
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 |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adcy3 |
A |
G |
12: 4,250,998 (GRCm39) |
N586D |
possibly damaging |
Het |
Ak6 |
T |
A |
13: 100,791,689 (GRCm39) |
|
probably null |
Het |
Ankrd66 |
T |
C |
17: 43,854,409 (GRCm39) |
D41G |
probably benign |
Het |
Atp8b2 |
G |
A |
3: 89,860,001 (GRCm39) |
P339S |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 29,811,820 (GRCm39) |
V1297I |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,064,192 (GRCm39) |
D781E |
possibly damaging |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Clint1 |
A |
G |
11: 45,797,004 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
G |
1: 90,706,781 (GRCm39) |
Y2111H |
unknown |
Het |
Csnk1g1 |
A |
G |
9: 65,927,197 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,029,145 (GRCm39) |
N648K |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,376,966 (GRCm39) |
K1584E |
probably benign |
Het |
Ezh2 |
A |
T |
6: 47,553,594 (GRCm39) |
M41K |
probably damaging |
Het |
Fscn2 |
G |
A |
11: 120,258,852 (GRCm39) |
G466S |
probably damaging |
Het |
Garin5b |
A |
G |
7: 4,761,153 (GRCm39) |
S520P |
probably damaging |
Het |
Gm15217 |
A |
G |
14: 46,620,663 (GRCm39) |
|
probably benign |
Het |
Gm9696 |
T |
C |
3: 59,879,696 (GRCm39) |
|
noncoding transcript |
Het |
Gosr2 |
G |
A |
11: 103,570,076 (GRCm39) |
Q162* |
probably null |
Het |
Hectd4 |
T |
A |
5: 121,487,593 (GRCm39) |
H3529Q |
possibly damaging |
Het |
Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
Kmt2c |
A |
T |
5: 25,495,525 (GRCm39) |
I4074K |
probably damaging |
Het |
Ly6g2 |
G |
A |
15: 75,089,569 (GRCm39) |
G26R |
probably damaging |
Het |
Map3k11 |
A |
G |
19: 5,747,429 (GRCm39) |
D555G |
probably benign |
Het |
Mindy2 |
A |
G |
9: 70,538,312 (GRCm39) |
I341T |
probably damaging |
Het |
Mrnip |
G |
A |
11: 50,067,718 (GRCm39) |
|
probably null |
Het |
Muc5b |
G |
A |
7: 141,412,844 (GRCm39) |
C1930Y |
unknown |
Het |
Nfatc3 |
T |
G |
8: 106,805,482 (GRCm39) |
I109S |
probably damaging |
Het |
Npas1 |
G |
T |
7: 16,208,541 (GRCm39) |
A112D |
probably benign |
Het |
Npffr2 |
T |
A |
5: 89,715,925 (GRCm39) |
I84N |
probably damaging |
Het |
Nxph4 |
T |
A |
10: 127,362,465 (GRCm39) |
H142L |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,378,294 (GRCm39) |
|
probably benign |
Het |
Per3 |
A |
G |
4: 151,093,705 (GRCm39) |
|
probably null |
Het |
Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,160,108 (GRCm39) |
|
probably benign |
Het |
Sall4 |
G |
A |
2: 168,594,555 (GRCm39) |
P420L |
probably benign |
Het |
Sap30bp |
A |
G |
11: 115,855,046 (GRCm39) |
K252R |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,703,914 (GRCm39) |
Y692* |
probably null |
Het |
Sema3e |
C |
T |
5: 14,260,390 (GRCm39) |
T181M |
probably damaging |
Het |
Shisa4 |
A |
T |
1: 135,299,700 (GRCm39) |
Y194* |
probably null |
Het |
Slc17a6 |
G |
A |
7: 51,311,333 (GRCm39) |
|
probably benign |
Het |
Smg1 |
T |
G |
7: 117,765,190 (GRCm39) |
|
probably null |
Het |
Smim7 |
C |
T |
8: 73,324,849 (GRCm39) |
G9R |
probably damaging |
Het |
Spata31d1d |
C |
T |
13: 59,874,311 (GRCm39) |
G1075R |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,302,771 (GRCm39) |
|
probably benign |
Het |
Tbce |
A |
G |
13: 14,184,227 (GRCm39) |
I217T |
possibly damaging |
Het |
Tpk1 |
G |
A |
6: 43,588,284 (GRCm39) |
P27S |
probably benign |
Het |
Tsc22d1 |
A |
G |
14: 76,655,797 (GRCm39) |
I2V |
probably benign |
Het |
Tulp4 |
T |
G |
17: 6,283,490 (GRCm39) |
V1173G |
possibly damaging |
Het |
Uchl1 |
T |
C |
5: 66,834,417 (GRCm39) |
|
probably null |
Het |
Ugt2b38 |
T |
A |
5: 87,571,492 (GRCm39) |
Q180L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGTTGCCAAACTTGTCTGCCC -3'
(R):5'- TTGCTACCAACCTTGATGGCTCG -3'
Sequencing Primer
(F):5'- CCAGCCACAGTGTCATAGTCG -3'
(R):5'- ctgtccttaaaactccagaatcc -3'
|
Posted On |
2014-05-23 |