Incidental Mutation 'R7809:Sf3b1'
ID |
600986 |
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 |
045864-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7809 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55034614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1015
(D1015E)
|
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: D1015E
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: D1015E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot13 |
G |
A |
13: 25,004,779 (GRCm39) |
T62I |
probably damaging |
Het |
Adam33 |
C |
G |
2: 130,893,266 (GRCm39) |
R779P |
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,676,760 (GRCm39) |
P2024S |
possibly damaging |
Het |
Afm |
A |
G |
5: 90,672,675 (GRCm39) |
N170S |
probably damaging |
Het |
Ambn |
G |
A |
5: 88,615,683 (GRCm39) |
V371I |
probably benign |
Het |
Apbb1 |
G |
A |
7: 105,223,014 (GRCm39) |
P199L |
probably benign |
Het |
Axdnd1 |
A |
T |
1: 156,220,371 (GRCm39) |
C118* |
probably null |
Het |
Carf |
G |
T |
1: 60,183,226 (GRCm39) |
V443L |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,402,894 (GRCm39) |
D459G |
probably damaging |
Het |
Ckap5 |
G |
A |
2: 91,436,702 (GRCm39) |
A1601T |
probably benign |
Het |
Cnot1 |
A |
T |
8: 96,478,406 (GRCm39) |
I973N |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,890,835 (GRCm39) |
T391A |
unknown |
Het |
Cracr2a |
A |
T |
6: 127,626,925 (GRCm39) |
M569L |
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,797,474 (GRCm39) |
F1313L |
probably damaging |
Het |
Cstdc2 |
A |
G |
2: 148,688,910 (GRCm39) |
S110P |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,434,289 (GRCm39) |
R523L |
probably damaging |
Het |
Cxadr |
T |
C |
16: 78,130,407 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
T |
11: 117,995,462 (GRCm39) |
M962K |
probably benign |
Het |
Dnm1 |
T |
C |
2: 32,243,091 (GRCm39) |
K44R |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,917,924 (GRCm39) |
S1500G |
probably damaging |
Het |
Gad1 |
T |
C |
2: 70,427,603 (GRCm39) |
F503S |
possibly damaging |
Het |
Garin3 |
A |
G |
11: 46,298,631 (GRCm39) |
E645G |
|
Het |
Gm20730 |
T |
C |
6: 43,058,989 (GRCm39) |
I15V |
probably benign |
Het |
Gmppb |
T |
G |
9: 107,928,654 (GRCm39) |
*361G |
probably null |
Het |
Inpp5f |
T |
C |
7: 128,269,367 (GRCm39) |
V239A |
probably damaging |
Het |
Irf4 |
A |
T |
13: 30,941,415 (GRCm39) |
Y257F |
probably benign |
Het |
Kcnma1 |
T |
C |
14: 23,423,324 (GRCm39) |
D793G |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,051,678 (GRCm39) |
K358R |
probably damaging |
Het |
Mcpt4 |
T |
A |
14: 56,298,141 (GRCm39) |
I137F |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,226,638 (GRCm39) |
H1358L |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,855,944 (GRCm39) |
M979L |
possibly damaging |
Het |
Mvb12a |
C |
A |
8: 71,998,306 (GRCm39) |
P175T |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,241,167 (GRCm39) |
E848G |
probably benign |
Het |
Or4c105 |
A |
T |
2: 88,647,902 (GRCm39) |
H129L |
probably damaging |
Het |
Oxnad1 |
T |
C |
14: 31,822,962 (GRCm39) |
V231A |
probably benign |
Het |
Pcdhac1 |
A |
G |
18: 37,224,009 (GRCm39) |
N274S |
possibly damaging |
Het |
Plxnc1 |
T |
A |
10: 94,630,302 (GRCm39) |
K1532N |
probably damaging |
Het |
Polr3e |
A |
G |
7: 120,523,449 (GRCm39) |
D14G |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,415,164 (GRCm39) |
F1432S |
possibly damaging |
Het |
Prlhr |
A |
G |
19: 60,456,293 (GRCm39) |
L91P |
probably damaging |
Het |
Prom1 |
C |
T |
5: 44,178,209 (GRCm39) |
V508I |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,357,848 (GRCm39) |
Y387C |
probably damaging |
Het |
Sall3 |
T |
A |
18: 81,017,575 (GRCm39) |
T118S |
probably benign |
Het |
Sfmbt2 |
A |
G |
2: 10,398,155 (GRCm39) |
N12S |
probably benign |
Het |
Sohlh1 |
A |
C |
2: 25,735,289 (GRCm39) |
S198A |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,198,465 (GRCm39) |
S38P |
possibly damaging |
Het |
Spata21 |
G |
A |
4: 140,831,354 (GRCm39) |
A434T |
probably null |
Het |
Stard13 |
T |
A |
5: 151,113,489 (GRCm39) |
Q24L |
probably damaging |
Het |
Syne2 |
G |
T |
12: 76,014,230 (GRCm39) |
M3140I |
probably benign |
Het |
Tango6 |
T |
C |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
Tdrd9 |
G |
A |
12: 111,999,155 (GRCm39) |
G757R |
probably damaging |
Het |
Thada |
A |
C |
17: 84,759,265 (GRCm39) |
V198G |
possibly damaging |
Het |
Tmf1 |
T |
C |
6: 97,138,420 (GRCm39) |
N833D |
probably damaging |
Het |
Trav7-3 |
T |
C |
14: 53,681,072 (GRCm39) |
M38T |
probably benign |
Het |
Ttc38 |
A |
C |
15: 85,722,939 (GRCm39) |
Q129P |
possibly damaging |
Het |
Uox |
A |
T |
3: 146,333,613 (GRCm39) |
K271* |
probably null |
Het |
Urgcp |
A |
T |
11: 5,673,133 (GRCm39) |
D47E |
probably benign |
Het |
Usp17lb |
A |
G |
7: 104,490,420 (GRCm39) |
I169T |
probably damaging |
Het |
Wdr75 |
T |
C |
1: 45,862,596 (GRCm39) |
I805T |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,250,446 (GRCm39) |
F59S |
probably damaging |
Het |
Zfp383 |
G |
A |
7: 29,609,661 (GRCm39) |
A21T |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,278 (GRCm39) |
Y210C |
possibly damaging |
Het |
Zfp871 |
A |
G |
17: 32,993,826 (GRCm39) |
C450R |
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 |
|
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 |
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'- ACCACTATTTCCTATTACCACTCAAAG -3'
(R):5'- TTCTAAATGTAACAAGGAGCTGTTAA -3'
Sequencing Primer
(F):5'- TTACCTGTCAGCAATGCG -3'
(R):5'- CTGGGGTCTTTATCCACT -3'
|
Posted On |
2019-11-26 |