Incidental Mutation 'R7644:Sf3b1'
ID |
590386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sf3b1
|
Ensembl Gene |
ENSMUSG00000025982 |
Gene Name |
splicing factor 3b, subunit 1 |
Synonyms |
Prp10, SAP155, SF3b155, 2810001M05Rik, Targ4 |
MMRRC Submission |
045723-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7644 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 55036302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 924
(R924*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000027127
AA Change: R924*
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: R924*
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
65 |
75 |
N/A |
INTRINSIC |
internal_repeat_1
|
185 |
276 |
1.77e-12 |
PROSPERO |
Pfam:SF3b1
|
329 |
452 |
1.2e-51 |
PFAM |
SCOP:d1qbkb_
|
489 |
1289 |
5e-62 |
SMART |
Blast:ARM
|
593 |
637 |
6e-13 |
BLAST |
Blast:ARM
|
1005 |
1044 |
7e-14 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (86/86) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 1 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. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
C |
T |
2: 30,687,966 (GRCm39) |
R209Q |
possibly damaging |
Het |
Abl2 |
A |
G |
1: 156,443,563 (GRCm39) |
D24G |
probably benign |
Het |
Adar |
C |
T |
3: 89,652,826 (GRCm39) |
A754V |
probably benign |
Het |
Adcy8 |
C |
T |
15: 64,571,218 (GRCm39) |
V1172I |
possibly damaging |
Het |
Adgrl2 |
C |
T |
3: 148,544,789 (GRCm39) |
V769M |
probably damaging |
Het |
Akna |
T |
A |
4: 63,313,634 (GRCm39) |
Q163L |
possibly damaging |
Het |
Alox15 |
C |
T |
11: 70,236,368 (GRCm39) |
A511T |
probably null |
Het |
Ano8 |
C |
T |
8: 71,937,474 (GRCm39) |
G90D |
probably damaging |
Het |
Aqp5 |
G |
A |
15: 99,492,107 (GRCm39) |
R235H |
probably damaging |
Het |
B3galt4 |
A |
T |
17: 34,169,419 (GRCm39) |
V273E |
probably damaging |
Het |
Ccdc125 |
C |
T |
13: 100,814,884 (GRCm39) |
|
probably null |
Het |
Ccdc90b |
A |
G |
7: 92,216,868 (GRCm39) |
R47G |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,320,806 (GRCm39) |
L669I |
probably damaging |
Het |
Clasp1 |
T |
G |
1: 118,440,480 (GRCm39) |
|
probably null |
Het |
Clec4a2 |
C |
T |
6: 123,101,974 (GRCm39) |
P43L |
probably benign |
Het |
Cntn1 |
T |
C |
15: 92,207,890 (GRCm39) |
I827T |
probably benign |
Het |
Col9a1 |
G |
T |
1: 24,224,243 (GRCm39) |
V142F |
unknown |
Het |
Cplane1 |
T |
A |
15: 8,252,611 (GRCm39) |
D1944E |
probably benign |
Het |
Cts7 |
G |
T |
13: 61,504,782 (GRCm39) |
Y23* |
probably null |
Het |
Dcdc2a |
T |
A |
13: 25,291,674 (GRCm39) |
Y220N |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,000 (GRCm39) |
L250* |
probably null |
Het |
Dmxl1 |
T |
G |
18: 50,026,619 (GRCm39) |
V1909G |
probably benign |
Het |
Ehd2 |
G |
A |
7: 15,691,474 (GRCm39) |
P286L |
possibly damaging |
Het |
Elf3 |
G |
T |
1: 135,184,244 (GRCm39) |
A208E |
possibly damaging |
Het |
Eml5 |
A |
G |
12: 98,822,203 (GRCm39) |
I775T |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,813,393 (GRCm39) |
T791A |
probably damaging |
Het |
Fanci |
C |
A |
7: 79,094,219 (GRCm39) |
S1105* |
probably null |
Het |
Fastkd1 |
T |
A |
2: 69,527,184 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 39,064,390 (GRCm39) |
E4782G |
possibly damaging |
Het |
Fnta |
T |
C |
8: 26,503,516 (GRCm39) |
I90V |
probably damaging |
Het |
Fosl1 |
C |
T |
19: 5,500,332 (GRCm39) |
R84* |
probably null |
Het |
Gdf2 |
T |
C |
14: 33,666,847 (GRCm39) |
F190L |
probably benign |
Het |
Gzmn |
T |
A |
14: 56,404,776 (GRCm39) |
Q88L |
probably damaging |
Het |
Hat1 |
T |
A |
2: 71,240,525 (GRCm39) |
L73Q |
probably damaging |
Het |
Hdhd2 |
G |
A |
18: 77,031,871 (GRCm39) |
G109E |
possibly damaging |
Het |
Il22ra1 |
A |
G |
4: 135,460,346 (GRCm39) |
N34S |
probably damaging |
Het |
Ino80d |
T |
C |
1: 63,097,930 (GRCm39) |
T760A |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
Kdm6b |
T |
C |
11: 69,291,032 (GRCm39) |
N1574S |
unknown |
Het |
Kel |
T |
C |
6: 41,667,742 (GRCm39) |
E400G |
probably benign |
Het |
Kif22 |
G |
A |
7: 126,632,134 (GRCm39) |
T350I |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,506,839 (GRCm39) |
N305S |
probably benign |
Het |
Klk12 |
A |
C |
7: 43,419,134 (GRCm39) |
Q33P |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,841,304 (GRCm39) |
|
probably null |
Het |
Krtap31-1 |
T |
A |
11: 99,799,048 (GRCm39) |
C84S |
possibly damaging |
Het |
Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,738,690 (GRCm39) |
M214K |
probably benign |
Het |
Mak |
T |
A |
13: 41,183,586 (GRCm39) |
N565Y |
probably benign |
Het |
Mphosph6 |
T |
C |
8: 118,528,623 (GRCm39) |
T7A |
probably benign |
Het |
Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,039,688 (GRCm39) |
T814A |
|
Het |
Nmbr |
T |
C |
10: 14,636,433 (GRCm39) |
L134P |
probably damaging |
Het |
Nup107 |
C |
T |
10: 117,606,375 (GRCm39) |
V456M |
probably damaging |
Het |
Or56b1b |
A |
G |
7: 108,164,649 (GRCm39) |
S118P |
possibly damaging |
Het |
Or8g22 |
C |
A |
9: 38,958,638 (GRCm39) |
D26Y |
probably damaging |
Het |
Pink1 |
A |
T |
4: 138,044,683 (GRCm39) |
H351Q |
probably damaging |
Het |
Piwil4 |
A |
T |
9: 14,645,711 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
C |
A |
11: 8,825,758 (GRCm39) |
V1498F |
|
Het |
Polb |
A |
G |
8: 23,130,443 (GRCm39) |
I161T |
probably benign |
Het |
Polg |
A |
T |
7: 79,101,416 (GRCm39) |
L1097Q |
probably damaging |
Het |
Prelp |
T |
C |
1: 133,842,356 (GRCm39) |
N263S |
probably benign |
Het |
Pten |
T |
C |
19: 32,789,234 (GRCm39) |
C211R |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,995,645 (GRCm39) |
A1012V |
probably benign |
Het |
Ptprr |
T |
A |
10: 115,884,133 (GRCm39) |
H63Q |
probably benign |
Het |
Rapsn |
A |
T |
2: 90,872,299 (GRCm39) |
H211L |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,183,929 (GRCm39) |
N1690S |
probably benign |
Het |
Rpap2 |
A |
G |
5: 107,768,167 (GRCm39) |
E335G |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,385,396 (GRCm39) |
S567T |
probably benign |
Het |
Sftpb |
G |
A |
6: 72,286,818 (GRCm39) |
E241K |
probably benign |
Het |
Smarca4 |
G |
T |
9: 21,566,950 (GRCm39) |
A677S |
probably benign |
Het |
Srrm2 |
G |
A |
17: 24,038,294 (GRCm39) |
R1646Q |
unknown |
Het |
Tex15 |
T |
A |
8: 34,064,445 (GRCm39) |
C1292S |
probably benign |
Het |
Tmem140 |
A |
G |
6: 34,849,708 (GRCm39) |
I75V |
probably benign |
Het |
Trhr2 |
T |
A |
8: 123,084,061 (GRCm39) |
Q313L |
possibly damaging |
Het |
Trim35 |
A |
G |
14: 66,534,546 (GRCm39) |
T10A |
unknown |
Het |
Ttn |
T |
C |
2: 76,750,124 (GRCm39) |
I3642V |
probably benign |
Het |
Ugt1a2 |
T |
C |
1: 88,128,507 (GRCm39) |
L50P |
probably damaging |
Het |
Unc13a |
C |
A |
8: 72,087,182 (GRCm39) |
V1522L |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,063,589 (GRCm39) |
D21G |
possibly damaging |
Het |
Vmn1r90 |
G |
A |
7: 14,295,616 (GRCm39) |
Q161* |
probably null |
Het |
Vmn2r117 |
A |
T |
17: 23,696,265 (GRCm39) |
W381R |
probably damaging |
Het |
Vmn2r16 |
G |
C |
5: 109,487,837 (GRCm39) |
A237P |
probably damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,606,746 (GRCm39) |
V200A |
probably benign |
Het |
Yjefn3 |
C |
T |
8: 70,340,544 (GRCm39) |
V227M |
probably damaging |
Het |
Zfp652 |
T |
C |
11: 95,640,914 (GRCm39) |
F280L |
probably damaging |
Het |
Zfp748 |
G |
A |
13: 67,689,568 (GRCm39) |
T564I |
probably damaging |
Het |
|
Other mutations in Sf3b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00754:Sf3b1
|
APN |
1 |
55,026,645 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00815:Sf3b1
|
APN |
1 |
55,036,090 (GRCm39) |
splice site |
probably benign |
|
IGL01380:Sf3b1
|
APN |
1 |
55,027,108 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01390:Sf3b1
|
APN |
1 |
55,026,588 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02974:Sf3b1
|
APN |
1 |
55,046,866 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03159:Sf3b1
|
APN |
1 |
55,051,372 (GRCm39) |
missense |
probably benign |
|
Colt
|
UTSW |
1 |
55,036,315 (GRCm39) |
missense |
probably benign |
0.45 |
Glock
|
UTSW |
1 |
55,040,205 (GRCm39) |
missense |
probably damaging |
0.96 |
Handgun
|
UTSW |
1 |
55,046,666 (GRCm39) |
missense |
probably damaging |
1.00 |
Kalashnikov
|
UTSW |
1 |
55,058,424 (GRCm39) |
missense |
probably damaging |
0.99 |
Magazine
|
UTSW |
1 |
55,051,341 (GRCm39) |
nonsense |
probably null |
|
Revolver
|
UTSW |
1 |
55,058,548 (GRCm39) |
nonsense |
probably null |
|
R0053:Sf3b1
|
UTSW |
1 |
55,039,532 (GRCm39) |
nonsense |
probably null |
|
R0053:Sf3b1
|
UTSW |
1 |
55,039,532 (GRCm39) |
nonsense |
probably null |
|
R0190:Sf3b1
|
UTSW |
1 |
55,029,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R0277:Sf3b1
|
UTSW |
1 |
55,058,416 (GRCm39) |
missense |
probably damaging |
0.99 |
R0323:Sf3b1
|
UTSW |
1 |
55,058,416 (GRCm39) |
missense |
probably damaging |
0.99 |
R0369:Sf3b1
|
UTSW |
1 |
55,037,267 (GRCm39) |
missense |
probably benign |
0.10 |
R0396:Sf3b1
|
UTSW |
1 |
55,058,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R0718:Sf3b1
|
UTSW |
1 |
55,058,544 (GRCm39) |
missense |
probably damaging |
0.99 |
R0991:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1082:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1083:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1084:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1196:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1376:Sf3b1
|
UTSW |
1 |
55,058,424 (GRCm39) |
missense |
probably damaging |
0.99 |
R1376:Sf3b1
|
UTSW |
1 |
55,058,424 (GRCm39) |
missense |
probably damaging |
0.99 |
R1381:Sf3b1
|
UTSW |
1 |
55,042,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R1436:Sf3b1
|
UTSW |
1 |
55,040,580 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1559:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1560:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1561:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1567:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1568:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1588:Sf3b1
|
UTSW |
1 |
55,036,336 (GRCm39) |
missense |
probably benign |
0.05 |
R1625:Sf3b1
|
UTSW |
1 |
55,058,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1694:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1735:Sf3b1
|
UTSW |
1 |
55,039,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R1900:Sf3b1
|
UTSW |
1 |
55,037,347 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2186:Sf3b1
|
UTSW |
1 |
55,046,792 (GRCm39) |
missense |
probably benign |
|
R2429:Sf3b1
|
UTSW |
1 |
55,055,960 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2473:Sf3b1
|
UTSW |
1 |
55,038,785 (GRCm39) |
critical splice donor site |
probably null |
|
R3772:Sf3b1
|
UTSW |
1 |
55,039,150 (GRCm39) |
intron |
probably benign |
|
R3911:Sf3b1
|
UTSW |
1 |
55,058,548 (GRCm39) |
nonsense |
probably null |
|
R3970:Sf3b1
|
UTSW |
1 |
55,051,341 (GRCm39) |
nonsense |
probably null |
|
R4706:Sf3b1
|
UTSW |
1 |
55,029,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Sf3b1
|
UTSW |
1 |
55,029,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Sf3b1
|
UTSW |
1 |
55,038,871 (GRCm39) |
missense |
probably benign |
|
R5053:Sf3b1
|
UTSW |
1 |
55,036,336 (GRCm39) |
missense |
probably benign |
0.05 |
R5358:Sf3b1
|
UTSW |
1 |
55,042,469 (GRCm39) |
missense |
probably benign |
0.09 |
R5379:Sf3b1
|
UTSW |
1 |
55,042,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5628:Sf3b1
|
UTSW |
1 |
55,037,334 (GRCm39) |
missense |
probably benign |
0.27 |
R5636:Sf3b1
|
UTSW |
1 |
55,036,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R6013:Sf3b1
|
UTSW |
1 |
55,039,457 (GRCm39) |
missense |
probably damaging |
0.98 |
R6149:Sf3b1
|
UTSW |
1 |
55,046,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R6217:Sf3b1
|
UTSW |
1 |
55,046,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R6426:Sf3b1
|
UTSW |
1 |
55,038,814 (GRCm39) |
missense |
probably benign |
0.01 |
R6531:Sf3b1
|
UTSW |
1 |
55,058,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R6945:Sf3b1
|
UTSW |
1 |
55,036,315 (GRCm39) |
missense |
probably benign |
0.45 |
R7001:Sf3b1
|
UTSW |
1 |
55,053,640 (GRCm39) |
critical splice donor site |
probably null |
|
R7001:Sf3b1
|
UTSW |
1 |
55,040,205 (GRCm39) |
missense |
probably damaging |
0.96 |
R7302:Sf3b1
|
UTSW |
1 |
55,055,949 (GRCm39) |
missense |
probably benign |
0.00 |
R7664:Sf3b1
|
UTSW |
1 |
55,026,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R7735:Sf3b1
|
UTSW |
1 |
55,042,508 (GRCm39) |
missense |
probably benign |
0.29 |
R7809:Sf3b1
|
UTSW |
1 |
55,034,614 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8516:Sf3b1
|
UTSW |
1 |
55,051,262 (GRCm39) |
missense |
probably null |
0.01 |
R8871:Sf3b1
|
UTSW |
1 |
55,029,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R8947:Sf3b1
|
UTSW |
1 |
55,039,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Sf3b1
|
UTSW |
1 |
55,051,376 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Sf3b1
|
UTSW |
1 |
55,042,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGCCCAATACTTCAGGG -3'
(R):5'- TGACCAGTTGTCCTCAGTTTAAC -3'
Sequencing Primer
(F):5'- GCCCAATACTTCAGGGTACTC -3'
(R):5'- AACAAATGGGATGTTTGGGTG -3'
|
Posted On |
2019-10-24 |