Incidental Mutation 'R7735:Sf3b1'
| ID |
596169 |
| 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 |
045791-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55042508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 461
(S461T)
|
| 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: S461T
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: S461T
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| Adcy8 |
T |
C |
15: 64,655,629 (GRCm39) |
T617A |
probably benign |
Het |
| Agl |
A |
T |
3: 116,578,795 (GRCm39) |
I446N |
probably benign |
Het |
| Aox1 |
C |
T |
1: 58,107,451 (GRCm39) |
P575L |
probably benign |
Het |
| Ap2m1 |
A |
T |
16: 20,358,269 (GRCm39) |
I96F |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 44,006,642 (GRCm39) |
D253G |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,152 (GRCm39) |
C171* |
probably null |
Het |
| Arsb |
G |
T |
13: 93,908,491 (GRCm39) |
R69L |
probably benign |
Het |
| Asb13 |
G |
A |
13: 3,684,180 (GRCm39) |
|
probably null |
Het |
| Canx |
G |
T |
11: 50,191,866 (GRCm39) |
D348E |
probably damaging |
Het |
| Cebpz |
C |
T |
17: 79,233,342 (GRCm39) |
|
probably null |
Het |
| Ces2h |
A |
T |
8: 105,741,127 (GRCm39) |
I40L |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,039 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,350,723 (GRCm39) |
|
probably null |
Het |
| Cxadr |
T |
A |
16: 78,125,949 (GRCm39) |
N106K |
possibly damaging |
Het |
| Ddo |
T |
C |
10: 40,507,770 (GRCm39) |
C56R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,046,412 (GRCm39) |
G3192D |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,962,465 (GRCm39) |
V49E |
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,807,472 (GRCm39) |
Y578H |
|
Het |
| Fbxw16 |
T |
C |
9: 109,270,135 (GRCm39) |
D202G |
probably damaging |
Het |
| Gzf1 |
T |
C |
2: 148,530,083 (GRCm39) |
V538A |
possibly damaging |
Het |
| Igha |
T |
A |
12: 113,220,019 (GRCm39) |
|
probably benign |
Het |
| Iqce |
G |
T |
5: 140,663,839 (GRCm39) |
Q457K |
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,846 (GRCm39) |
K407E |
possibly damaging |
Het |
| Lipt1 |
A |
G |
1: 37,914,703 (GRCm39) |
E253G |
probably damaging |
Het |
| Mrnip |
G |
A |
11: 50,087,800 (GRCm39) |
W107* |
probably null |
Het |
| Mroh4 |
T |
C |
15: 74,497,357 (GRCm39) |
T224A |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,218,661 (GRCm39) |
S1389R |
probably benign |
Het |
| Npffr2 |
A |
G |
5: 89,731,173 (GRCm39) |
I368V |
probably benign |
Het |
| Nrdc |
C |
T |
4: 108,895,182 (GRCm39) |
L469F |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,092,883 (GRCm39) |
Q1279L |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,819 (GRCm39) |
N200I |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,795,410 (GRCm39) |
Y64H |
probably damaging |
Het |
| Pcdha4 |
T |
G |
18: 37,085,961 (GRCm39) |
I48S |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,101 (GRCm39) |
Y211C |
possibly damaging |
Het |
| Prrt4 |
A |
T |
6: 29,170,035 (GRCm39) |
S806T |
possibly damaging |
Het |
| Ptpn20 |
T |
A |
14: 33,352,902 (GRCm39) |
Y214N |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,417,661 (GRCm39) |
N938K |
probably damaging |
Het |
| Scn2a |
G |
T |
2: 65,594,013 (GRCm39) |
V1621L |
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,569,087 (GRCm39) |
I358T |
probably damaging |
Het |
| Slc22a2 |
C |
T |
17: 12,828,917 (GRCm39) |
T341I |
probably damaging |
Het |
| Slc38a7 |
A |
T |
8: 96,568,295 (GRCm39) |
D363E |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,598,090 (GRCm39) |
|
probably null |
Het |
| Smo |
T |
A |
6: 29,759,851 (GRCm39) |
V650E |
probably damaging |
Het |
| Spata17 |
G |
A |
1: 186,872,577 (GRCm39) |
T31I |
unknown |
Het |
| Sstr2 |
T |
A |
11: 113,515,423 (GRCm39) |
I114N |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,788,023 (GRCm39) |
Y146C |
probably damaging |
Het |
| Synpo2l |
T |
C |
14: 20,711,243 (GRCm39) |
Q688R |
possibly damaging |
Het |
| Tmem245 |
C |
T |
4: 56,925,155 (GRCm39) |
R322H |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,890,398 (GRCm39) |
E247G |
unknown |
Het |
| Ttc28 |
A |
T |
5: 111,414,544 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,718,416 (GRCm39) |
I7255N |
unknown |
Het |
| Ttn |
C |
A |
2: 76,652,768 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,165,791 (GRCm39) |
R204C |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,619,787 (GRCm39) |
|
probably null |
Het |
| Vps53 |
A |
T |
11: 75,937,962 (GRCm39) |
F753I |
probably damaging |
Het |
| Ypel1 |
G |
T |
16: 16,918,124 (GRCm39) |
S97R |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,343,264 (GRCm39) |
T548A |
possibly damaging |
Het |
| Zfp747 |
G |
A |
7: 126,973,672 (GRCm39) |
T166M |
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 |
|
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'- CTGGACTAAGTGTTGATTCATCTAC -3'
(R):5'- TCTTAAGTGCAGATGCTACTCATTCTG -3'
Sequencing Primer
(F):5'- GTGTTGATTCATCTACATCAACCTAC -3'
(R):5'- GCTACTCATTCTGTTGTCTTAAGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation