Incidental Mutation 'R5358:Sf3b1'
ID |
424136 |
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 |
042937-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5358 (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 G
at 55042469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 474
(Y474H)
|
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: Y474H
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: Y474H
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188859
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,849,165 (GRCm39) |
V1842A |
probably damaging |
Het |
Abi3 |
A |
T |
11: 95,732,934 (GRCm39) |
F13L |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,125,758 (GRCm39) |
K538R |
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,342,581 (GRCm39) |
H191Y |
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,886,538 (GRCm39) |
T376A |
probably benign |
Het |
Ceacam18 |
C |
A |
7: 43,286,497 (GRCm39) |
N123K |
possibly damaging |
Het |
Celsr3 |
C |
T |
9: 108,709,224 (GRCm39) |
R1357C |
possibly damaging |
Het |
Chek2 |
T |
C |
5: 110,989,148 (GRCm39) |
|
probably benign |
Het |
Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
Chrm2 |
A |
G |
6: 36,500,290 (GRCm39) |
K49R |
probably damaging |
Het |
Ciao2b |
T |
C |
8: 105,368,282 (GRCm39) |
N14S |
probably damaging |
Het |
Daam1 |
T |
A |
12: 71,999,233 (GRCm39) |
L623* |
probably null |
Het |
Ddx31 |
T |
A |
2: 28,753,782 (GRCm39) |
C448S |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,586,331 (GRCm39) |
S1507P |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,965,928 (GRCm39) |
T2420K |
probably damaging |
Het |
Dyrk3 |
C |
T |
1: 131,057,432 (GRCm39) |
R247H |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,242,934 (GRCm39) |
E49G |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,476,596 (GRCm39) |
E258G |
probably damaging |
Het |
Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,877,321 (GRCm39) |
E1106K |
probably damaging |
Het |
Hip1 |
G |
T |
5: 135,465,252 (GRCm39) |
S385R |
probably benign |
Het |
Igsf9 |
C |
T |
1: 172,312,078 (GRCm39) |
T8I |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,105,190 (GRCm39) |
Y86H |
possibly damaging |
Het |
Kcnh6 |
A |
T |
11: 105,918,417 (GRCm39) |
I756F |
possibly damaging |
Het |
Kdm5b |
C |
T |
1: 134,535,432 (GRCm39) |
R570* |
probably null |
Het |
Kif16b |
T |
A |
2: 142,582,889 (GRCm39) |
R545S |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,100,030 (GRCm39) |
I1528N |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,730,571 (GRCm39) |
|
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Mknk2 |
T |
C |
10: 80,507,597 (GRCm39) |
T60A |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,248,907 (GRCm39) |
K1466E |
probably damaging |
Het |
Ntsr2 |
A |
C |
12: 16,704,083 (GRCm39) |
T109P |
probably damaging |
Het |
Nup214 |
C |
A |
2: 31,907,158 (GRCm39) |
S995Y |
unknown |
Het |
Or2a5 |
A |
T |
6: 42,873,454 (GRCm39) |
Q23L |
probably benign |
Het |
Pclo |
T |
A |
5: 14,762,750 (GRCm39) |
L456* |
probably null |
Het |
Pde5a |
A |
G |
3: 122,541,825 (GRCm39) |
D105G |
probably damaging |
Het |
Pik3c3 |
C |
A |
18: 30,456,597 (GRCm39) |
P709H |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rab3c |
T |
C |
13: 110,198,497 (GRCm39) |
N179S |
possibly damaging |
Het |
Setdb2 |
T |
A |
14: 59,646,885 (GRCm39) |
R559S |
probably benign |
Het |
Slc6a6 |
G |
T |
6: 91,712,155 (GRCm39) |
W228L |
probably benign |
Het |
Slc8a2 |
T |
G |
7: 15,891,228 (GRCm39) |
I750S |
probably damaging |
Het |
Slco2b1 |
T |
A |
7: 99,309,251 (GRCm39) |
I194L |
unknown |
Het |
Smarcd1 |
C |
T |
15: 99,601,128 (GRCm39) |
Q45* |
probably null |
Het |
Srcap |
T |
G |
7: 127,139,492 (GRCm39) |
L1271R |
probably damaging |
Het |
Srsf12 |
A |
T |
4: 33,209,330 (GRCm39) |
N9Y |
probably damaging |
Het |
St7 |
T |
C |
6: 17,819,317 (GRCm39) |
S74P |
probably damaging |
Het |
Stxbp5l |
T |
A |
16: 36,994,688 (GRCm39) |
E739V |
probably damaging |
Het |
Sun3 |
T |
A |
11: 8,981,496 (GRCm39) |
Q36L |
possibly damaging |
Het |
Tbc1d32 |
T |
C |
10: 56,047,033 (GRCm39) |
H545R |
possibly damaging |
Het |
Tcp11 |
A |
T |
17: 28,296,994 (GRCm39) |
C133S |
probably benign |
Het |
Tm6sf2 |
T |
C |
8: 70,526,939 (GRCm39) |
V36A |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,717 (GRCm39) |
Y244C |
probably damaging |
Het |
Tra2a |
A |
T |
6: 49,227,949 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,903,332 (GRCm39) |
I1031F |
probably damaging |
Het |
Ttll3 |
A |
G |
6: 113,378,292 (GRCm39) |
K381E |
probably benign |
Het |
Uaca |
T |
C |
9: 60,778,430 (GRCm39) |
V937A |
probably benign |
Het |
Umod |
C |
T |
7: 119,071,577 (GRCm39) |
G388D |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,924,412 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
Zfp644 |
G |
A |
5: 106,783,541 (GRCm39) |
T1002I |
probably damaging |
Het |
Zfp738 |
A |
G |
13: 67,819,131 (GRCm39) |
Y287H |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,644,771 (GRCm39) |
T1144A |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,361,352 (GRCm39) |
|
probably null |
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 |
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'- TTACCTTTCTCATTGGAGGTGTACC -3'
(R):5'- GCCAAGGGCGTTATACTAACATG -3'
Sequencing Primer
(F):5'- CTTCTGGACTAAGTGTTGATTC -3'
(R):5'- TAGGTACTTCCCCCTCCAGCTG -3'
|
Posted On |
2016-08-04 |