Incidental Mutation 'R1436:Sf3b1'
| ID |
159495 |
| 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 |
039491-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55040580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 561
(Y561H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027127
AA Change: Y561H
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: Y561H
| 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 |
noncoding transcript
Transcript: ENSMUST00000187500
|
| Meta Mutation Damage Score |
0.5285 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| Validation Efficiency |
94% (65/69) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,621,172 (GRCm39) |
F292S |
probably benign |
Het |
| Aadacl2fm3 |
A |
T |
3: 59,772,760 (GRCm39) |
D88V |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,242,646 (GRCm39) |
V1503A |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,777,627 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
T |
C |
6: 125,844,134 (GRCm39) |
|
probably null |
Het |
| Areg |
G |
T |
5: 91,287,664 (GRCm39) |
|
probably benign |
Het |
| Atg16l2 |
A |
G |
7: 100,940,757 (GRCm39) |
V453A |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,662 (GRCm39) |
S563P |
probably benign |
Het |
| Bhmt-ps1 |
A |
G |
4: 26,369,591 (GRCm39) |
|
noncoding transcript |
Het |
| Birc6 |
C |
A |
17: 74,959,700 (GRCm39) |
P3855Q |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,049,197 (GRCm39) |
K8M |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,304,890 (GRCm39) |
V1089A |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,248,400 (GRCm39) |
|
probably null |
Het |
| Cnot6l |
T |
A |
5: 96,281,971 (GRCm39) |
E9V |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,794,806 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,729,484 (GRCm39) |
M1T |
probably null |
Het |
| Dbp |
T |
C |
7: 45,357,879 (GRCm39) |
V149A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,285 (GRCm39) |
V1241A |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,662,295 (GRCm39) |
S314P |
probably damaging |
Het |
| Glce |
C |
T |
9: 61,977,292 (GRCm39) |
|
probably null |
Het |
| Gm5093 |
C |
G |
17: 46,750,680 (GRCm39) |
D116H |
probably damaging |
Het |
| Golim4 |
A |
G |
3: 75,785,951 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
T |
2: 180,877,317 (GRCm39) |
I1107N |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,304 (GRCm39) |
S74P |
probably benign |
Het |
| Ikbkb |
T |
A |
8: 23,163,419 (GRCm39) |
N297I |
probably benign |
Het |
| Il20ra |
T |
A |
10: 19,625,000 (GRCm39) |
I93N |
probably damaging |
Het |
| Itch |
C |
A |
2: 155,034,065 (GRCm39) |
N412K |
probably damaging |
Het |
| Kcna5 |
T |
A |
6: 126,511,724 (GRCm39) |
T135S |
probably damaging |
Het |
| Lncpint |
G |
A |
6: 31,157,974 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc39 |
A |
T |
3: 116,373,293 (GRCm39) |
|
probably null |
Het |
| Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,120,256 (GRCm39) |
T128M |
probably damaging |
Het |
| Mpeg1 |
C |
T |
19: 12,439,823 (GRCm39) |
S427F |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,953,798 (GRCm39) |
Y854C |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,325,727 (GRCm39) |
E373K |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,540 (GRCm39) |
T245A |
possibly damaging |
Het |
| Nsun5 |
T |
C |
5: 135,399,067 (GRCm39) |
L39P |
probably damaging |
Het |
| Or2ad1 |
G |
T |
13: 21,327,162 (GRCm39) |
Q22K |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,648,336 (GRCm39) |
T274S |
possibly damaging |
Het |
| Or4f7 |
A |
G |
2: 111,644,906 (GRCm39) |
L55S |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,162,678 (GRCm39) |
T815A |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,104,398 (GRCm39) |
R392W |
probably damaging |
Het |
| Ppip5k2 |
G |
A |
1: 97,639,507 (GRCm39) |
T1186I |
probably benign |
Het |
| Rhot2 |
A |
C |
17: 26,060,374 (GRCm39) |
S277R |
probably benign |
Het |
| Satb1 |
T |
G |
17: 52,111,391 (GRCm39) |
|
probably null |
Het |
| Sec31b |
T |
C |
19: 44,524,634 (GRCm39) |
I88V |
probably damaging |
Het |
| Selenon |
T |
A |
4: 134,267,997 (GRCm39) |
E483V |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,820,981 (GRCm39) |
T22A |
possibly damaging |
Het |
| Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
T |
A |
9: 109,947,708 (GRCm39) |
|
probably benign |
Het |
| Stard3nl |
C |
T |
13: 19,556,819 (GRCm39) |
R107Q |
probably damaging |
Het |
| Syce1 |
C |
T |
7: 140,357,593 (GRCm39) |
R324H |
possibly damaging |
Het |
| Tnk1 |
G |
T |
11: 69,743,119 (GRCm39) |
|
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,150,968 (GRCm39) |
F198L |
probably damaging |
Het |
| Trip4 |
A |
T |
9: 65,788,233 (GRCm39) |
W71R |
probably damaging |
Het |
| Ubox5 |
A |
C |
2: 130,439,213 (GRCm39) |
|
probably benign |
Het |
| Ust |
G |
A |
10: 8,183,202 (GRCm39) |
T167M |
probably damaging |
Het |
| Zbtb2 |
T |
C |
10: 4,318,697 (GRCm39) |
Q443R |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,361,196 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TCAACAGTGGCTCGATAACCACAAG -3'
(R):5'- CTCAGGCTGCCTTACGTCAGATTAC -3'
Sequencing Primer
(F):5'- tcaagggcagcctggac -3'
(R):5'- CGTCAGATTACTGATAAAGCTCG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation