Incidental Mutation 'R0718:Sf3b1'
ID |
63666 |
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 |
038900-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0718 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55058544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 15
(I15T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
[ENSMUST00000191303]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027127
AA Change: I15T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: I15T
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 damaging
Transcript: ENSMUST00000191303
AA Change: I15T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139469 Gene: ENSMUSG00000025982 AA Change: I15T
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 |
0.1691 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (96/96) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
A |
T |
3: 95,586,918 (GRCm39) |
Y811N |
possibly damaging |
Het |
Adrm1 |
T |
C |
2: 179,816,940 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,598,803 (GRCm39) |
S1210T |
probably benign |
Het |
Ampd3 |
C |
T |
7: 110,377,015 (GRCm39) |
P11L |
probably damaging |
Het |
Arhgap5 |
A |
G |
12: 52,563,290 (GRCm39) |
E87G |
possibly damaging |
Het |
Armc5 |
C |
T |
7: 127,839,242 (GRCm39) |
|
probably benign |
Het |
Asic2 |
C |
G |
11: 80,862,282 (GRCm39) |
|
probably benign |
Het |
Asph |
A |
G |
4: 9,514,683 (GRCm39) |
|
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,531,351 (GRCm39) |
|
probably null |
Het |
Brip1 |
A |
G |
11: 86,034,131 (GRCm39) |
L530P |
possibly damaging |
Het |
Bsn |
G |
T |
9: 107,988,559 (GRCm39) |
|
probably benign |
Het |
Btnl4 |
T |
A |
17: 34,688,608 (GRCm39) |
H390L |
probably benign |
Het |
Ccdc70 |
A |
C |
8: 22,463,324 (GRCm39) |
K38T |
probably damaging |
Het |
Ccni |
G |
A |
5: 93,350,175 (GRCm39) |
P35S |
probably benign |
Het |
Cdh17 |
A |
G |
4: 11,810,451 (GRCm39) |
D714G |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,386,181 (GRCm39) |
L2033P |
probably damaging |
Het |
Cfap69 |
A |
T |
5: 5,671,924 (GRCm39) |
M328K |
probably damaging |
Het |
Cmah |
T |
G |
13: 24,601,193 (GRCm39) |
|
probably null |
Het |
Cog6 |
T |
C |
3: 52,918,050 (GRCm39) |
T163A |
probably benign |
Het |
Cyp2j8 |
G |
A |
4: 96,389,433 (GRCm39) |
S130F |
probably benign |
Het |
Dgki |
A |
G |
6: 36,989,831 (GRCm39) |
V636A |
probably damaging |
Het |
Dmkn |
T |
A |
7: 30,464,211 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,012,276 (GRCm39) |
I3679T |
possibly damaging |
Het |
Dsp |
A |
T |
13: 38,380,740 (GRCm39) |
Y2495F |
possibly damaging |
Het |
Exosc4 |
C |
T |
15: 76,213,689 (GRCm39) |
A171V |
probably benign |
Het |
Fbxw24 |
A |
G |
9: 109,452,577 (GRCm39) |
|
probably benign |
Het |
Flvcr1 |
A |
T |
1: 190,757,779 (GRCm39) |
L171Q |
probably damaging |
Het |
Fsd1 |
G |
T |
17: 56,303,445 (GRCm39) |
|
probably null |
Het |
Gm7732 |
A |
G |
17: 21,350,106 (GRCm39) |
|
noncoding transcript |
Het |
H2-K2 |
A |
C |
17: 34,194,597 (GRCm39) |
|
noncoding transcript |
Het |
Hgf |
A |
G |
5: 16,798,857 (GRCm39) |
N295S |
probably damaging |
Het |
Ift88 |
T |
A |
14: 57,754,870 (GRCm39) |
D811E |
probably benign |
Het |
Igsf9b |
T |
A |
9: 27,234,657 (GRCm39) |
|
probably null |
Het |
Immt |
T |
A |
6: 71,840,156 (GRCm39) |
V311E |
probably damaging |
Het |
Ipo11 |
T |
A |
13: 107,056,119 (GRCm39) |
N51I |
possibly damaging |
Het |
Isy1 |
T |
C |
6: 87,796,158 (GRCm39) |
K260E |
probably damaging |
Het |
Jchain |
T |
G |
5: 88,674,061 (GRCm39) |
I28L |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,054,725 (GRCm39) |
|
probably null |
Het |
Kif13b |
T |
C |
14: 64,989,111 (GRCm39) |
|
probably benign |
Het |
Klhdc7b |
T |
C |
15: 89,272,372 (GRCm39) |
Y427H |
possibly damaging |
Het |
Klhl8 |
T |
C |
5: 104,024,159 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,341,292 (GRCm39) |
D963N |
probably damaging |
Het |
Ltbp3 |
G |
T |
19: 5,796,776 (GRCm39) |
|
probably benign |
Het |
Ltf |
C |
A |
9: 110,869,447 (GRCm39) |
Q41K |
probably benign |
Het |
Med4 |
T |
A |
14: 73,754,097 (GRCm39) |
I148N |
probably damaging |
Het |
Mlh3 |
T |
G |
12: 85,294,471 (GRCm39) |
S1242R |
possibly damaging |
Het |
Mllt6 |
T |
C |
11: 97,567,185 (GRCm39) |
|
probably benign |
Het |
Mpdz |
A |
G |
4: 81,210,710 (GRCm39) |
I1712T |
possibly damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,301 (GRCm39) |
H209L |
probably benign |
Het |
Nkapl |
A |
T |
13: 21,652,610 (GRCm39) |
M1K |
probably null |
Het |
Nmur2 |
T |
A |
11: 55,920,324 (GRCm39) |
|
probably benign |
Het |
Nsun2 |
T |
A |
13: 69,691,816 (GRCm39) |
|
probably benign |
Het |
Or10ag60 |
A |
G |
2: 87,438,271 (GRCm39) |
I180V |
probably benign |
Het |
Or8k35 |
G |
A |
2: 86,424,425 (GRCm39) |
T249I |
probably benign |
Het |
Ovgp1 |
T |
C |
3: 105,882,146 (GRCm39) |
|
probably benign |
Het |
Pcdh8 |
A |
G |
14: 80,008,131 (GRCm39) |
V144A |
possibly damaging |
Het |
Pcnx3 |
G |
A |
19: 5,727,756 (GRCm39) |
|
probably benign |
Het |
Pla2r1 |
C |
A |
2: 60,309,874 (GRCm39) |
V570L |
possibly damaging |
Het |
Plxnd1 |
C |
A |
6: 115,943,599 (GRCm39) |
E1202D |
possibly damaging |
Het |
Ppp1r37 |
T |
C |
7: 19,266,179 (GRCm39) |
E529G |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,613,833 (GRCm39) |
F496L |
possibly damaging |
Het |
Prlhr |
G |
T |
19: 60,456,497 (GRCm39) |
S23* |
probably null |
Het |
Prlhr |
A |
T |
19: 60,456,443 (GRCm39) |
V41D |
probably benign |
Het |
Prpf4 |
C |
T |
4: 62,332,777 (GRCm39) |
|
probably benign |
Het |
Psg26 |
C |
T |
7: 18,209,160 (GRCm39) |
R416H |
probably benign |
Het |
Psg26 |
T |
C |
7: 18,212,212 (GRCm39) |
H381R |
probably benign |
Het |
Ralgds |
T |
G |
2: 28,439,128 (GRCm39) |
M717R |
probably benign |
Het |
Rbms1 |
T |
C |
2: 60,672,756 (GRCm39) |
N44D |
probably damaging |
Het |
Rpa1 |
T |
C |
11: 75,209,227 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
T |
C |
3: 95,673,699 (GRCm39) |
N568S |
probably benign |
Het |
Rptor |
A |
G |
11: 119,763,202 (GRCm39) |
M929V |
probably benign |
Het |
Rspo1 |
T |
A |
4: 124,900,942 (GRCm39) |
C97S |
possibly damaging |
Het |
Scin |
C |
T |
12: 40,129,606 (GRCm39) |
G396S |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,377,456 (GRCm39) |
N409D |
probably damaging |
Het |
Sh3bp2 |
T |
C |
5: 34,712,839 (GRCm39) |
V149A |
probably damaging |
Het |
Slc39a12 |
T |
A |
2: 14,412,237 (GRCm39) |
|
probably benign |
Het |
Sp9 |
G |
T |
2: 73,104,171 (GRCm39) |
A242S |
possibly damaging |
Het |
Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
Tatdn3 |
G |
T |
1: 190,785,046 (GRCm39) |
|
probably benign |
Het |
Tex14 |
G |
A |
11: 87,390,439 (GRCm39) |
V379I |
probably benign |
Het |
Tmed6 |
T |
C |
8: 107,788,356 (GRCm39) |
N197S |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,575,641 (GRCm39) |
I1043N |
probably benign |
Het |
Ttbk2 |
G |
A |
2: 120,579,056 (GRCm39) |
L689F |
probably benign |
Het |
Ttn |
A |
G |
2: 76,641,040 (GRCm39) |
S5283P |
probably damaging |
Het |
Ube3b |
C |
A |
5: 114,540,616 (GRCm39) |
S441* |
probably null |
Het |
Ush2a |
G |
A |
1: 188,530,027 (GRCm39) |
C3272Y |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,359,109 (GRCm39) |
I95K |
probably damaging |
Het |
Vangl2 |
G |
A |
1: 171,833,784 (GRCm39) |
A433V |
probably damaging |
Het |
Vwa5b1 |
A |
T |
4: 138,336,135 (GRCm39) |
V153D |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,682,282 (GRCm39) |
D3240E |
unknown |
Het |
Zfp945 |
A |
G |
17: 23,070,004 (GRCm39) |
C632R |
probably damaging |
Het |
Zfyve26 |
G |
A |
12: 79,312,576 (GRCm39) |
|
probably benign |
Het |
Zyg11b |
A |
T |
4: 108,099,273 (GRCm39) |
I606N |
possibly 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 |
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 |
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'- GCCCAGTGAGGACCCTAGTATTAAGC -3'
(R):5'- TCCTTTCACCTGATGAGGTCAGGAG -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GAGGTCAGGAGATACATGTGTAGAT -3'
|
Posted On |
2013-07-30 |