Incidental Mutation 'R8516:Sf3b1'
| ID |
656121 |
| 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 |
067848-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55051262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 222
(E222G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
[ENSMUST00000191303]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027127
AA Change: E222G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: E222G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191303
|
| SMART Domains |
Protein: ENSMUSP00000139469
Gene: ENSMUSG00000025982
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
75 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
T |
9: 4,309,373 (GRCm39) |
S22T |
probably benign |
Het |
| Acte1 |
T |
A |
7: 143,451,011 (GRCm39) |
I342N |
probably damaging |
Het |
| Actr8 |
G |
T |
14: 29,712,856 (GRCm39) |
A500S |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,260,780 (GRCm39) |
Y1005C |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,763,559 (GRCm39) |
Y884* |
probably null |
Het |
| Arhgap28 |
T |
C |
17: 68,180,068 (GRCm39) |
R306G |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 59,928,921 (GRCm39) |
I1044M |
probably benign |
Het |
| Bahd1 |
A |
G |
2: 118,747,452 (GRCm39) |
Y357C |
probably benign |
Het |
| Btd |
A |
T |
14: 31,388,824 (GRCm39) |
T182S |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,607 (GRCm39) |
R280C |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,774 (GRCm39) |
T106A |
probably damaging |
Het |
| Cldn15 |
G |
T |
5: 137,003,550 (GRCm39) |
C184F |
probably damaging |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coprs |
G |
T |
8: 13,935,065 (GRCm39) |
F163L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,492,761 (GRCm39) |
R2216* |
probably null |
Het |
| Defb7 |
A |
T |
8: 19,547,623 (GRCm39) |
I43F |
possibly damaging |
Het |
| Dpp8 |
C |
A |
9: 64,985,291 (GRCm39) |
T783K |
probably damaging |
Het |
| Eif2s1 |
G |
A |
12: 78,927,936 (GRCm39) |
G204D |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,108,576 (GRCm39) |
N56S |
probably damaging |
Het |
| Emilin1 |
G |
A |
5: 31,074,515 (GRCm39) |
R252H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,350,554 (GRCm39) |
L569Q |
probably damaging |
Het |
| Gpn2 |
C |
T |
4: 133,312,142 (GRCm39) |
R125C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,294 (GRCm39) |
E582G |
probably benign |
Het |
| Hadha |
A |
T |
5: 30,331,582 (GRCm39) |
V458E |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,246,893 (GRCm39) |
K4R |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,487,073 (GRCm39) |
H3356L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,856,318 (GRCm39) |
V3919I |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 135,003,021 (GRCm39) |
N76K |
probably damaging |
Het |
| Or52w1 |
A |
G |
7: 105,017,976 (GRCm39) |
I148V |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,963,869 (GRCm39) |
M462V |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,126,084 (GRCm39) |
M773L |
probably benign |
Het |
| Peak1 |
T |
C |
9: 56,167,284 (GRCm39) |
S215G |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,074 (GRCm39) |
M331L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,658,188 (GRCm39) |
V213A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,070,764 (GRCm39) |
H1205R |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,966,826 (GRCm39) |
M85K |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,583,529 (GRCm39) |
I212N |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,164,441 (GRCm39) |
K714R |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,384,952 (GRCm39) |
G207S |
probably benign |
Het |
| Rgs22 |
A |
G |
15: 36,010,481 (GRCm39) |
*1259Q |
probably null |
Het |
| Scn1a |
C |
T |
2: 66,156,478 (GRCm39) |
G477D |
possibly damaging |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spem2 |
T |
C |
11: 69,707,721 (GRCm39) |
R415G |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,246,515 (GRCm39) |
V13E |
probably damaging |
Het |
| Trim2 |
C |
T |
3: 84,115,627 (GRCm39) |
A102T |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,611 (GRCm39) |
S82P |
probably benign |
Het |
| Uba6 |
A |
C |
5: 86,275,607 (GRCm39) |
S760R |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,023,782 (GRCm39) |
F711L |
unknown |
Het |
| Utrn |
T |
A |
10: 12,362,254 (GRCm39) |
D2693V |
probably damaging |
Het |
| Vmn1r30 |
T |
G |
6: 58,412,109 (GRCm39) |
Y241S |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,875 (GRCm39) |
L598P |
probably damaging |
Het |
| Wfdc18 |
T |
A |
11: 83,599,984 (GRCm39) |
F14Y |
probably benign |
Het |
| Wnt10b |
A |
T |
15: 98,670,761 (GRCm39) |
C256S |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,930,444 (GRCm39) |
Y1554* |
probably null |
Het |
| Zc3h12a |
T |
A |
4: 125,013,632 (GRCm39) |
S411C |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 23,823,389 (GRCm39) |
G63E |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,797,477 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,493,419 (GRCm39) |
Y75F |
possibly 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 |
|
R7644:Sf3b1
|
UTSW |
1 |
55,036,302 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- TGACAAAGTATTCTCCCCAGAC -3'
(R):5'- GCTTAAGCATGCTCGGTAAGC -3'
Sequencing Primer
(F):5'- GTATTCTCCCCAGACAACAATCCTG -3'
(R):5'- CTCGGTAAGCATAGCTACTTGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation