Incidental Mutation 'R3970:Sf3b1'
ID |
310903 |
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 |
040938-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3970 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 55051341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 196
(R196*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
[ENSMUST00000191303]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000027127
AA Change: R196*
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: R196*
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: ENSMUST00000188419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189051
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191303
|
SMART Domains |
Protein: ENSMUSP00000139469 Gene: ENSMUSG00000025982
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
65 |
75 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
96% (53/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
C |
4: 148,029,779 (GRCm39) |
M583T |
probably damaging |
Het |
Actn4 |
T |
C |
7: 28,661,457 (GRCm39) |
K51R |
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,821,898 (GRCm39) |
Y513C |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,219,699 (GRCm39) |
L34* |
probably null |
Het |
Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,161,700 (GRCm39) |
N749D |
probably benign |
Het |
Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
Cherp |
T |
C |
8: 73,223,795 (GRCm39) |
H196R |
possibly damaging |
Het |
Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
Col11a1 |
A |
T |
3: 113,890,838 (GRCm39) |
T392S |
unknown |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Csf2rb |
T |
C |
15: 78,225,667 (GRCm39) |
V286A |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,578,756 (GRCm39) |
E128G |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,200,601 (GRCm39) |
L332P |
probably damaging |
Het |
Nampt |
T |
A |
12: 32,883,095 (GRCm39) |
D93E |
probably benign |
Het |
Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
Nlrp6 |
C |
A |
7: 140,501,568 (GRCm39) |
A45E |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,942,488 (GRCm39) |
P4898L |
probably damaging |
Het |
Or8c11 |
T |
C |
9: 38,289,222 (GRCm39) |
V15A |
probably damaging |
Het |
Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
Pcdh8 |
C |
T |
14: 80,007,706 (GRCm39) |
G286S |
possibly damaging |
Het |
Pcdha2 |
C |
A |
18: 37,073,750 (GRCm39) |
Y460* |
probably null |
Het |
Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
Pign |
A |
C |
1: 105,583,728 (GRCm39) |
S125A |
probably damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,824,218 (GRCm39) |
E1566K |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,546,171 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
Pramel4 |
A |
T |
4: 143,795,044 (GRCm39) |
N477I |
possibly damaging |
Het |
Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
Slc6a7 |
A |
C |
18: 61,136,417 (GRCm39) |
L328R |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,714,750 (GRCm39) |
T139A |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,479,106 (GRCm39) |
I613N |
probably damaging |
Het |
Tlk1 |
A |
G |
2: 70,546,996 (GRCm39) |
V695A |
probably damaging |
Het |
Trpc2 |
A |
G |
7: 101,733,531 (GRCm39) |
D160G |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
Vwa7 |
G |
A |
17: 35,236,684 (GRCm39) |
A84T |
probably damaging |
Het |
Zfp219 |
T |
A |
14: 52,244,421 (GRCm39) |
Q541L |
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 |
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 |
|
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'- TGACAAAGTATTCTCCCCAGAC -3'
(R):5'- GCTTAAGCATGCTCGGTAAGC -3'
Sequencing Primer
(F):5'- GTATTCTCCCCAGACAACAATCCTG -3'
(R):5'- CTCGGTAAGCATAGCTACTTGAG -3'
|
Posted On |
2015-04-29 |