Incidental Mutation 'R0718:Sf3b1'
| ID |
63666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf3b1
|
| Ensembl Gene |
ENSMUSG00000025982 |
| Gene Name |
splicing factor 3b, subunit 1 |
| Synonyms |
Targ4, SAP155, Prp10, 2810001M05Rik, SF3b155 |
| 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 |
54985169-55027481 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55019385 bp (GRCm38)
|
| 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: 95,679,608 |
Y811N |
possibly damaging |
Het |
| Adrm1 |
T |
C |
2: 180,175,147 |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,621,821 |
S1210T |
probably benign |
Het |
| Ampd3 |
C |
T |
7: 110,777,808 |
P11L |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,516,507 |
E87G |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 128,240,070 |
|
probably benign |
Het |
| Asic2 |
C |
G |
11: 80,971,456 |
|
probably benign |
Het |
| Asph |
A |
G |
4: 9,514,683 |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,377,875 |
|
probably null |
Het |
| Brip1 |
A |
G |
11: 86,143,305 |
L530P |
possibly damaging |
Het |
| Bsn |
G |
T |
9: 108,111,360 |
|
probably benign |
Het |
| Btnl4 |
T |
A |
17: 34,469,634 |
H390L |
probably benign |
Het |
| Ccdc70 |
A |
C |
8: 21,973,308 |
K38T |
probably damaging |
Het |
| Ccni |
G |
A |
5: 93,202,316 |
P35S |
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,810,451 |
D714G |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,653,984 |
L2033P |
probably damaging |
Het |
| Cfap69 |
A |
T |
5: 5,621,924 |
M328K |
probably damaging |
Het |
| Cmah |
T |
G |
13: 24,417,210 |
|
probably null |
Het |
| Cog6 |
T |
C |
3: 53,010,629 |
T163A |
probably benign |
Het |
| Cyp2j8 |
G |
A |
4: 96,501,196 |
S130F |
probably benign |
Het |
| Dgki |
A |
G |
6: 37,012,896 |
V636A |
probably damaging |
Het |
| Dmkn |
T |
A |
7: 30,764,786 |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,035,293 |
I3679T |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,196,764 |
Y2495F |
possibly damaging |
Het |
| Exosc4 |
C |
T |
15: 76,329,489 |
A171V |
probably benign |
Het |
| Fbxw24 |
A |
G |
9: 109,623,509 |
|
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 191,025,582 |
L171Q |
probably damaging |
Het |
| Fsd1 |
G |
T |
17: 55,996,445 |
|
probably null |
Het |
| Gm7732 |
A |
G |
17: 21,129,844 |
|
noncoding transcript |
Het |
| H2-K2 |
A |
C |
17: 33,975,623 |
|
noncoding transcript |
Het |
| Hgf |
A |
G |
5: 16,593,859 |
N295S |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,517,413 |
D811E |
probably benign |
Het |
| Igsf9b |
T |
A |
9: 27,323,361 |
|
probably null |
Het |
| Immt |
T |
A |
6: 71,863,172 |
V311E |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 106,919,611 |
N51I |
possibly damaging |
Het |
| Isy1 |
T |
C |
6: 87,819,176 |
K260E |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,526,202 |
I28L |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,218,946 |
|
probably null |
Het |
| Kif13b |
T |
C |
14: 64,751,662 |
|
probably benign |
Het |
| Klhdc7b |
T |
C |
15: 89,388,169 |
Y427H |
possibly damaging |
Het |
| Klhl8 |
T |
C |
5: 103,876,293 |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,510,948 |
D963N |
probably damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,746,748 |
|
probably benign |
Het |
| Ltf |
C |
A |
9: 111,040,379 |
Q41K |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,516,657 |
I148N |
probably damaging |
Het |
| Mlh3 |
T |
G |
12: 85,247,697 |
S1242R |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,676,359 |
|
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,292,473 |
I1712T |
possibly damaging |
Het |
| Mrgprb4 |
T |
A |
7: 48,198,553 |
H209L |
probably benign |
Het |
| Nkapl |
A |
T |
13: 21,468,440 |
M1K |
probably null |
Het |
| Nmur2 |
T |
A |
11: 56,029,498 |
|
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,543,697 |
|
probably benign |
Het |
| Olfr1082 |
G |
A |
2: 86,594,081 |
T249I |
probably benign |
Het |
| Olfr1130 |
A |
G |
2: 87,607,927 |
I180V |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,974,830 |
|
probably benign |
Het |
| Pcdh8 |
A |
G |
14: 79,770,691 |
V144A |
possibly damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,677,728 |
|
probably benign |
Het |
| Pla2r1 |
C |
A |
2: 60,479,530 |
V570L |
possibly damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,966,638 |
E1202D |
possibly damaging |
Het |
| Ppp1r37 |
T |
C |
7: 19,532,254 |
E529G |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,812,633 |
F496L |
possibly damaging |
Het |
| Prlhr |
G |
T |
19: 60,468,059 |
S23* |
probably null |
Het |
| Prlhr |
A |
T |
19: 60,468,005 |
V41D |
probably benign |
Het |
| Prpf4 |
C |
T |
4: 62,414,540 |
|
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,478,287 |
H381R |
probably benign |
Het |
| Psg26 |
C |
T |
7: 18,475,235 |
R416H |
probably benign |
Het |
| Ralgds |
T |
G |
2: 28,549,116 |
M717R |
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,842,412 |
N44D |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,318,401 |
|
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,766,387 |
N568S |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,872,376 |
M929V |
probably benign |
Het |
| Rspo1 |
T |
A |
4: 125,007,149 |
C97S |
possibly damaging |
Het |
| Scin |
C |
T |
12: 40,079,607 |
G396S |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,547,112 |
N409D |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,555,495 |
V149A |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,407,426 |
|
probably benign |
Het |
| Sp9 |
G |
T |
2: 73,273,827 |
A242S |
possibly damaging |
Het |
| Srr |
A |
G |
11: 74,911,065 |
V126A |
possibly damaging |
Het |
| Tatdn3 |
G |
T |
1: 191,052,849 |
|
probably benign |
Het |
| Tex14 |
G |
A |
11: 87,499,613 |
V379I |
probably benign |
Het |
| Tmed6 |
T |
C |
8: 107,061,724 |
N197S |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,748,575 |
L689F |
probably benign |
Het |
| Ttbk2 |
A |
T |
2: 120,745,160 |
I1043N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,810,696 |
S5283P |
probably damaging |
Het |
| Ube3b |
C |
A |
5: 114,402,555 |
S441* |
probably null |
Het |
| Ush2a |
G |
A |
1: 188,797,830 |
C3272Y |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 110,632,477 |
I95K |
probably damaging |
Het |
| Vangl2 |
G |
A |
1: 172,006,217 |
A433V |
probably damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,608,824 |
V153D |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 108,955,650 |
D3240E |
unknown |
Het |
| Zfp945 |
A |
G |
17: 22,851,030 |
C632R |
probably damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,265,802 |
|
probably benign |
Het |
| Zyg11b |
A |
T |
4: 108,242,076 |
I606N |
possibly damaging |
Het |
|
| Other mutations in Sf3b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Sf3b1
|
APN |
1 |
54,987,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00815:Sf3b1
|
APN |
1 |
54,996,931 (GRCm38) |
splice site |
probably benign |
|
|
IGL01380:Sf3b1
|
APN |
1 |
54,987,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01390:Sf3b1
|
APN |
1 |
54,987,429 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02974:Sf3b1
|
APN |
1 |
55,007,707 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03159:Sf3b1
|
APN |
1 |
55,012,213 (GRCm38) |
missense |
probably benign |
|
|
Colt
|
UTSW |
1 |
54,997,156 (GRCm38) |
missense |
probably benign |
0.45 |
|
Glock
|
UTSW |
1 |
55,001,046 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Handgun
|
UTSW |
1 |
55,007,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Kalashnikov
|
UTSW |
1 |
55,019,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Magazine
|
UTSW |
1 |
55,012,182 (GRCm38) |
nonsense |
probably null |
|
|
Revolver
|
UTSW |
1 |
55,019,389 (GRCm38) |
nonsense |
probably null |
|
|
R0053:Sf3b1
|
UTSW |
1 |
55,000,373 (GRCm38) |
nonsense |
probably null |
|
|
R0053:Sf3b1
|
UTSW |
1 |
55,000,373 (GRCm38) |
nonsense |
probably null |
|
|
R0190:Sf3b1
|
UTSW |
1 |
54,990,306 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0277:Sf3b1
|
UTSW |
1 |
55,019,257 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0323:Sf3b1
|
UTSW |
1 |
55,019,257 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0369:Sf3b1
|
UTSW |
1 |
54,998,108 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0396:Sf3b1
|
UTSW |
1 |
55,019,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0991:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1082:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1083:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1084:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1196:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1376:Sf3b1
|
UTSW |
1 |
55,019,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1376:Sf3b1
|
UTSW |
1 |
55,019,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1381:Sf3b1
|
UTSW |
1 |
55,003,154 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1436:Sf3b1
|
UTSW |
1 |
55,001,421 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1559:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1560:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1561:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1567:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1568:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1588:Sf3b1
|
UTSW |
1 |
54,997,177 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1625:Sf3b1
|
UTSW |
1 |
55,019,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1694:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1735:Sf3b1
|
UTSW |
1 |
55,000,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1900:Sf3b1
|
UTSW |
1 |
54,998,188 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2186:Sf3b1
|
UTSW |
1 |
55,007,633 (GRCm38) |
missense |
probably benign |
|
|
R2429:Sf3b1
|
UTSW |
1 |
55,016,801 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2473:Sf3b1
|
UTSW |
1 |
54,999,626 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3772:Sf3b1
|
UTSW |
1 |
54,999,991 (GRCm38) |
intron |
probably benign |
|
|
R3911:Sf3b1
|
UTSW |
1 |
55,019,389 (GRCm38) |
nonsense |
probably null |
|
|
R3970:Sf3b1
|
UTSW |
1 |
55,012,182 (GRCm38) |
nonsense |
probably null |
|
|
R4706:Sf3b1
|
UTSW |
1 |
54,990,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4707:Sf3b1
|
UTSW |
1 |
54,990,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4964:Sf3b1
|
UTSW |
1 |
54,999,712 (GRCm38) |
missense |
probably benign |
|
|
R5053:Sf3b1
|
UTSW |
1 |
54,997,177 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5358:Sf3b1
|
UTSW |
1 |
55,003,310 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5379:Sf3b1
|
UTSW |
1 |
55,003,150 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5628:Sf3b1
|
UTSW |
1 |
54,998,175 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5636:Sf3b1
|
UTSW |
1 |
54,997,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6013:Sf3b1
|
UTSW |
1 |
55,000,298 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6149:Sf3b1
|
UTSW |
1 |
55,007,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6217:Sf3b1
|
UTSW |
1 |
55,007,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6426:Sf3b1
|
UTSW |
1 |
54,999,655 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6531:Sf3b1
|
UTSW |
1 |
55,019,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6945:Sf3b1
|
UTSW |
1 |
54,997,156 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7001:Sf3b1
|
UTSW |
1 |
55,014,481 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7001:Sf3b1
|
UTSW |
1 |
55,001,046 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7302:Sf3b1
|
UTSW |
1 |
55,016,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7644:Sf3b1
|
UTSW |
1 |
54,997,143 (GRCm38) |
nonsense |
probably null |
|
|
R7664:Sf3b1
|
UTSW |
1 |
54,987,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7735:Sf3b1
|
UTSW |
1 |
55,003,349 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7809:Sf3b1
|
UTSW |
1 |
54,995,455 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8516:Sf3b1
|
UTSW |
1 |
55,012,103 (GRCm38) |
missense |
probably null |
0.01 |
|
R8871:Sf3b1
|
UTSW |
1 |
54,990,349 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8947:Sf3b1
|
UTSW |
1 |
55,000,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9216:Sf3b1
|
UTSW |
1 |
55,012,217 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Sf3b1
|
UTSW |
1 |
55,003,402 (GRCm38) |
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 |
Incidental Mutation