Incidental Mutation 'R5053:Sf3b1'
| ID |
394718 |
| 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 |
042643-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5053 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55036336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 912
(N912K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027127
AA Change: N912K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: N912K
| 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: ENSMUST00000185429
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,035,250 (GRCm39) |
I259F |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,844,651 (GRCm39) |
C180R |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,614,349 (GRCm39) |
I448T |
possibly damaging |
Het |
| Alg9 |
G |
T |
9: 50,699,472 (GRCm39) |
G200W |
probably damaging |
Het |
| Amhr2 |
G |
A |
15: 102,355,693 (GRCm39) |
V213I |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,248 (GRCm39) |
L200* |
probably null |
Het |
| As3mt |
A |
G |
19: 46,697,493 (GRCm39) |
Y87C |
probably damaging |
Het |
| Bcl11a |
C |
A |
11: 24,114,068 (GRCm39) |
F470L |
probably benign |
Het |
| Cacna2d2 |
A |
T |
9: 107,392,063 (GRCm39) |
Y468F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,804,848 (GRCm39) |
D71G |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,616,882 (GRCm39) |
T923A |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,394,461 (GRCm39) |
L273P |
probably damaging |
Het |
| Comtd1 |
T |
C |
14: 21,897,764 (GRCm39) |
D123G |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,623,271 (GRCm39) |
E144V |
probably damaging |
Het |
| Cyp2c37 |
G |
A |
19: 39,990,331 (GRCm39) |
S343N |
probably benign |
Het |
| Dennd6a |
C |
A |
14: 26,329,738 (GRCm39) |
T103K |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,016,093 (GRCm39) |
L733P |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,325,393 (GRCm39) |
H11L |
probably benign |
Het |
| Ero1b |
T |
C |
13: 12,614,795 (GRCm39) |
L253P |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,766 (GRCm39) |
L135* |
probably null |
Het |
| Frmd4a |
A |
T |
2: 4,608,732 (GRCm39) |
T867S |
probably damaging |
Het |
| Gm815 |
C |
T |
19: 26,863,813 (GRCm39) |
A18V |
unknown |
Het |
| Gna12 |
C |
A |
5: 140,746,482 (GRCm39) |
R321L |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,264,643 (GRCm39) |
L1191P |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,496,957 (GRCm39) |
Q551K |
probably benign |
Het |
| Klhl11 |
C |
T |
11: 100,363,026 (GRCm39) |
V177M |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,269 (GRCm39) |
H91R |
possibly damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,489 (GRCm39) |
M223K |
probably damaging |
Het |
| Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,272,270 (GRCm39) |
V623E |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,231,415 (GRCm39) |
S119P |
probably damaging |
Het |
| Nfs1 |
A |
C |
2: 155,968,318 (GRCm39) |
C383G |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,628,919 (GRCm39) |
|
probably null |
Het |
| Oca2 |
C |
A |
7: 55,973,328 (GRCm39) |
Q411K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,654,741 (GRCm39) |
H184R |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,947,968 (GRCm39) |
Y60* |
probably null |
Het |
| Or1ad1 |
G |
A |
11: 50,876,137 (GRCm39) |
G203D |
probably damaging |
Het |
| Or4c15 |
C |
A |
2: 88,760,597 (GRCm39) |
V21F |
probably benign |
Het |
| Or8k25 |
A |
G |
2: 86,243,682 (GRCm39) |
F238S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,943 (GRCm39) |
T493S |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,115,782 (GRCm39) |
S368P |
probably benign |
Het |
| Pla2g2e |
T |
G |
4: 138,607,686 (GRCm39) |
V22G |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,442 (GRCm39) |
H1736Q |
probably damaging |
Het |
| Prlr |
C |
A |
15: 10,325,471 (GRCm39) |
Q215K |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,246 (GRCm39) |
V687A |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,399,063 (GRCm39) |
T1951S |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,541,073 (GRCm39) |
Q345K |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,309,473 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
T |
A |
7: 27,175,947 (GRCm39) |
V127E |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,632,220 (GRCm39) |
L202P |
probably damaging |
Het |
| Sp8 |
C |
T |
12: 118,813,339 (GRCm39) |
T398M |
probably damaging |
Het |
| Tmem150c |
A |
T |
5: 100,231,599 (GRCm39) |
D125E |
probably benign |
Het |
| Trim3 |
G |
T |
7: 105,266,968 (GRCm39) |
D470E |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,387,315 (GRCm39) |
C88* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,071,007 (GRCm39) |
D1124E |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,037,550 (GRCm39) |
S677P |
probably benign |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,241 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
C |
T |
7: 43,266,570 (GRCm39) |
T275I |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,796 (GRCm39) |
D161E |
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 |
|
|
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'- GCCCAATACTTCAGGGTACTC -3'
(R):5'- GTGACCAGTTGTCCTCAGTTTAAC -3'
Sequencing Primer
(F):5'- AGGGTACTCTTCACCCAAATATTC -3'
(R):5'- AAAACAAATGGGATGTTTGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation