Incidental Mutation 'R8516:Sf3b1'
| ID |
656121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf3b1
|
| Ensembl Gene |
ENSMUSG00000025982 |
| Gene Name |
splicing factor 3b, subunit 1 |
| Synonyms |
Targ4, SAP155, Prp10, 2810001M05Rik, SF3b155 |
| 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 |
54985169-55027481 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55012103 bp (GRCm38)
|
| 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 |
S22T |
probably benign |
Het |
| Actr8 |
G |
T |
14: 29,990,899 |
A500S |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,342,543 |
Y1005C |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,927,729 |
Y884* |
probably null |
Het |
| Arhgap28 |
T |
C |
17: 67,873,073 |
R306G |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 59,691,472 |
I1044M |
probably benign |
Het |
| Bahd1 |
A |
G |
2: 118,916,971 |
Y357C |
probably benign |
Het |
| Btd |
A |
T |
14: 31,666,867 |
T182S |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,822,781 |
R280C |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,411,013 |
T106A |
probably damaging |
Het |
| Cldn15 |
G |
T |
5: 136,974,696 |
C184F |
probably damaging |
Het |
| Clk4 |
G |
A |
11: 51,275,261 |
R198Q |
probably damaging |
Het |
| Coprs |
G |
T |
8: 13,885,065 |
F163L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,629,365 |
R2216* |
probably null |
Het |
| Defb7 |
A |
T |
8: 19,497,607 |
I43F |
possibly damaging |
Het |
| Dpp8 |
C |
A |
9: 65,078,009 |
T783K |
probably damaging |
Het |
| Eif2s1 |
G |
A |
12: 78,881,162 |
G204D |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,251,379 |
N56S |
probably damaging |
Het |
| Emilin1 |
G |
A |
5: 30,917,171 |
R252H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,520,073 |
L569Q |
probably damaging |
Het |
| Gm498 |
T |
A |
7: 143,897,274 |
I342N |
probably damaging |
Het |
| Gpn2 |
C |
T |
4: 133,584,831 |
R125C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,706,987 |
E582G |
probably benign |
Het |
| Hadha |
A |
T |
5: 30,126,584 |
V458E |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,356,067 |
K4R |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,349,010 |
H3356L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 56,206,570 |
V3919I |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 135,075,283 |
N76K |
probably damaging |
Het |
| Olfr692 |
A |
G |
7: 105,368,769 |
I148V |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 100,314,662 |
M462V |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,526,849 |
M773L |
probably benign |
Het |
| Peak1 |
T |
C |
9: 56,260,000 |
S215G |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,815,710 |
M331L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,420,739 |
V213A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 154,986,307 |
H1205R |
probably benign |
Het |
| Pop4 |
A |
T |
7: 38,267,402 |
M85K |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,877,768 |
I212N |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,007,099 |
K714R |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,466,715 |
G207S |
probably benign |
Het |
| Rgs22 |
A |
G |
15: 36,010,335 |
*1259Q |
probably null |
Het |
| Scn1a |
C |
T |
2: 66,326,134 |
G477D |
possibly damaging |
Het |
| Snrpa1 |
G |
A |
7: 66,070,633 |
G195R |
probably benign |
Het |
| Spem2 |
T |
C |
11: 69,816,895 |
R415G |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,098,396 |
V13E |
probably damaging |
Het |
| Trim2 |
C |
T |
3: 84,208,320 |
A102T |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,357,404 |
S82P |
probably benign |
Het |
| Uba6 |
A |
C |
5: 86,127,748 |
S760R |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,018,971 |
F711L |
unknown |
Het |
| Utrn |
T |
A |
10: 12,486,510 |
D2693V |
probably damaging |
Het |
| Vmn1r30 |
T |
G |
6: 58,435,124 |
Y241S |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,574,613 |
L598P |
probably damaging |
Het |
| Wfdc18 |
T |
A |
11: 83,709,158 |
F14Y |
probably benign |
Het |
| Wnt10b |
A |
T |
15: 98,772,880 |
C256S |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 96,048,391 |
Y1554* |
probably null |
Het |
| Zc3h12a |
T |
A |
4: 125,119,839 |
S411C |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 24,123,964 |
G63E |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,820,543 |
L487Q |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,345,355 |
Y75F |
possibly damaging |
Het |
|
| Other mutations in Sf3b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Sf3b1
|
APN |
1 |
54,987,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00815:Sf3b1
|
APN |
1 |
54,996,931 (GRCm38) |
splice site |
probably benign |
|
|
IGL01380:Sf3b1
|
APN |
1 |
54,987,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01390:Sf3b1
|
APN |
1 |
54,987,429 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02974:Sf3b1
|
APN |
1 |
55,007,707 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03159:Sf3b1
|
APN |
1 |
55,012,213 (GRCm38) |
missense |
probably benign |
|
|
Colt
|
UTSW |
1 |
54,997,156 (GRCm38) |
missense |
probably benign |
0.45 |
|
Glock
|
UTSW |
1 |
55,001,046 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Handgun
|
UTSW |
1 |
55,007,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Kalashnikov
|
UTSW |
1 |
55,019,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Magazine
|
UTSW |
1 |
55,012,182 (GRCm38) |
nonsense |
probably null |
|
|
Revolver
|
UTSW |
1 |
55,019,389 (GRCm38) |
nonsense |
probably null |
|
|
R0053:Sf3b1
|
UTSW |
1 |
55,000,373 (GRCm38) |
nonsense |
probably null |
|
|
R0053:Sf3b1
|
UTSW |
1 |
55,000,373 (GRCm38) |
nonsense |
probably null |
|
|
R0190:Sf3b1
|
UTSW |
1 |
54,990,306 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0277:Sf3b1
|
UTSW |
1 |
55,019,257 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0323:Sf3b1
|
UTSW |
1 |
55,019,257 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0369:Sf3b1
|
UTSW |
1 |
54,998,108 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0396:Sf3b1
|
UTSW |
1 |
55,019,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0718:Sf3b1
|
UTSW |
1 |
55,019,385 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0991:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1082:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1083:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1084:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1196:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1376:Sf3b1
|
UTSW |
1 |
55,019,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1376:Sf3b1
|
UTSW |
1 |
55,019,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1381:Sf3b1
|
UTSW |
1 |
55,003,154 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1436:Sf3b1
|
UTSW |
1 |
55,001,421 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1559:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1560:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1561:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1567:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1568:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1588:Sf3b1
|
UTSW |
1 |
54,997,177 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1625:Sf3b1
|
UTSW |
1 |
55,019,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1694:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1735:Sf3b1
|
UTSW |
1 |
55,000,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1900:Sf3b1
|
UTSW |
1 |
54,998,188 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2186:Sf3b1
|
UTSW |
1 |
55,007,633 (GRCm38) |
missense |
probably benign |
|
|
R2429:Sf3b1
|
UTSW |
1 |
55,016,801 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2473:Sf3b1
|
UTSW |
1 |
54,999,626 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3772:Sf3b1
|
UTSW |
1 |
54,999,991 (GRCm38) |
intron |
probably benign |
|
|
R3911:Sf3b1
|
UTSW |
1 |
55,019,389 (GRCm38) |
nonsense |
probably null |
|
|
R3970:Sf3b1
|
UTSW |
1 |
55,012,182 (GRCm38) |
nonsense |
probably null |
|
|
R4706:Sf3b1
|
UTSW |
1 |
54,990,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4707:Sf3b1
|
UTSW |
1 |
54,990,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4964:Sf3b1
|
UTSW |
1 |
54,999,712 (GRCm38) |
missense |
probably benign |
|
|
R5053:Sf3b1
|
UTSW |
1 |
54,997,177 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5358:Sf3b1
|
UTSW |
1 |
55,003,310 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5379:Sf3b1
|
UTSW |
1 |
55,003,150 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5628:Sf3b1
|
UTSW |
1 |
54,998,175 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5636:Sf3b1
|
UTSW |
1 |
54,997,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6013:Sf3b1
|
UTSW |
1 |
55,000,298 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6149:Sf3b1
|
UTSW |
1 |
55,007,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6217:Sf3b1
|
UTSW |
1 |
55,007,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6426:Sf3b1
|
UTSW |
1 |
54,999,655 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6531:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6945:Sf3b1
|
UTSW |
1 |
54,997,156 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7001:Sf3b1
|
UTSW |
1 |
55,014,481 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7001:Sf3b1
|
UTSW |
1 |
55,001,046 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7302:Sf3b1
|
UTSW |
1 |
55,016,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7644:Sf3b1
|
UTSW |
1 |
54,997,143 (GRCm38) |
nonsense |
probably null |
|
|
R7664:Sf3b1
|
UTSW |
1 |
54,987,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7735:Sf3b1
|
UTSW |
1 |
55,003,349 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7809:Sf3b1
|
UTSW |
1 |
54,995,455 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8871:Sf3b1
|
UTSW |
1 |
54,990,349 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8947:Sf3b1
|
UTSW |
1 |
55,000,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9216:Sf3b1
|
UTSW |
1 |
55,012,217 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Sf3b1
|
UTSW |
1 |
55,003,402 (GRCm38) |
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