Incidental Mutation 'R7664:Sf3b1'
| ID |
591753 |
| 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 |
045704-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7664 (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 G
at 55026626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1261
(V1261A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027127
AA Change: V1261A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: V1261A
| 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: 99.0%
|
| Validation Efficiency |
99% (83/84) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
T |
11: 84,136,175 (GRCm39) |
T510I |
probably damaging |
Het |
| Akap12 |
G |
T |
10: 4,303,748 (GRCm39) |
W291L |
probably damaging |
Het |
| Akip1 |
A |
T |
7: 109,308,187 (GRCm39) |
I152F |
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,440,073 (GRCm39) |
Y440F |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,158,698 (GRCm39) |
T90A |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,436,390 (GRCm39) |
E228V |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,626 (GRCm39) |
K405E |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,117,377 (GRCm39) |
E247G |
probably damaging |
Het |
| Camkk2 |
A |
T |
5: 122,894,645 (GRCm39) |
F216I |
unknown |
Het |
| Carm1 |
A |
C |
9: 21,498,286 (GRCm39) |
K430T |
probably benign |
Het |
| Ccdc13 |
A |
G |
9: 121,643,279 (GRCm39) |
V374A |
probably benign |
Het |
| Cdh26 |
T |
A |
2: 178,111,835 (GRCm39) |
M465K |
probably benign |
Het |
| Ceacam10 |
A |
T |
7: 24,477,757 (GRCm39) |
M91L |
probably benign |
Het |
| Chrnb1 |
T |
C |
11: 69,677,850 (GRCm39) |
T301A |
possibly damaging |
Het |
| Clec4a3 |
A |
G |
6: 122,943,381 (GRCm39) |
D101G |
probably benign |
Het |
| Cmss1 |
G |
A |
16: 57,138,310 (GRCm39) |
P59S |
probably benign |
Het |
| Crhr1 |
T |
A |
11: 104,059,968 (GRCm39) |
F138L |
probably benign |
Het |
| Cxcl5 |
A |
T |
5: 90,907,890 (GRCm39) |
I107F |
probably damaging |
Het |
| Cxcr1 |
A |
G |
1: 74,231,834 (GRCm39) |
S63P |
probably damaging |
Het |
| Cxcr5 |
A |
G |
9: 44,424,607 (GRCm39) |
L350P |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,961 (GRCm39) |
H811Q |
probably benign |
Het |
| Ddx46 |
T |
G |
13: 55,806,864 (GRCm39) |
I499S |
probably damaging |
Het |
| Ddx51 |
T |
G |
5: 110,804,785 (GRCm39) |
|
probably null |
Het |
| Dnaja1 |
C |
T |
4: 40,724,090 (GRCm39) |
P84S |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,153,132 (GRCm39) |
K203E |
possibly damaging |
Het |
| Fam107b |
T |
A |
2: 3,571,747 (GRCm39) |
C24S |
probably damaging |
Het |
| Fancg |
T |
C |
4: 43,010,066 (GRCm39) |
K11R |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,356,951 (GRCm39) |
L44P |
probably damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Heca |
A |
T |
10: 17,778,118 (GRCm39) |
L493Q |
probably damaging |
Het |
| Hrh2 |
C |
T |
13: 54,368,875 (GRCm39) |
P284S |
probably damaging |
Het |
| Ifnar1 |
C |
G |
16: 91,292,082 (GRCm39) |
A141G |
probably damaging |
Het |
| Igkv6-32 |
T |
A |
6: 70,051,282 (GRCm39) |
T25S |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,479,304 (GRCm39) |
H525R |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,666 (GRCm39) |
L553P |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,083,962 (GRCm39) |
Y280C |
probably damaging |
Het |
| Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
| Kcnh4 |
G |
T |
11: 100,641,148 (GRCm39) |
L434M |
probably damaging |
Het |
| Klhl14 |
T |
C |
18: 21,687,706 (GRCm39) |
D572G |
probably damaging |
Het |
| Klhl41 |
T |
A |
2: 69,501,061 (GRCm39) |
L174Q |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,337,076 (GRCm39) |
H1232P |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,388,161 (GRCm39) |
E229G |
probably benign |
Het |
| Mark4 |
A |
T |
7: 19,177,151 (GRCm39) |
L226Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,685,453 (GRCm39) |
K823R |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,212 (GRCm39) |
S218T |
probably benign |
Het |
| Mlip |
A |
T |
9: 77,045,828 (GRCm39) |
I884N |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,689 (GRCm39) |
T657A |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,355,376 (GRCm39) |
Y799H |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,519,018 (GRCm39) |
I6304N |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Naaladl2 |
T |
C |
3: 24,112,303 (GRCm39) |
Y593C |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,289,154 (GRCm39) |
E341G |
probably damaging |
Het |
| Nrg1 |
G |
T |
8: 32,499,169 (GRCm39) |
|
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,842,149 (GRCm39) |
L4P |
probably benign |
Het |
| Odf2l |
T |
A |
3: 144,854,345 (GRCm39) |
H493Q |
probably benign |
Het |
| Ost4 |
A |
C |
5: 31,065,007 (GRCm39) |
|
probably null |
Het |
| Patj |
A |
T |
4: 98,385,187 (GRCm39) |
Q840L |
possibly damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,706,803 (GRCm39) |
T166S |
probably benign |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,293 (GRCm39) |
D534E |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,310,069 (GRCm39) |
D417G |
possibly damaging |
Het |
| Ppwd1 |
A |
T |
13: 104,356,798 (GRCm39) |
V239E |
probably damaging |
Het |
| Prdm9 |
T |
A |
17: 15,775,833 (GRCm39) |
Y206F |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,476 (GRCm39) |
V292A |
possibly damaging |
Het |
| Rgs21 |
T |
A |
1: 144,416,987 (GRCm39) |
M22L |
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,676,335 (GRCm39) |
I399F |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,099,339 (GRCm39) |
Q184L |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,149,714 (GRCm39) |
Y137H |
possibly damaging |
Het |
| Sec14l4 |
C |
A |
11: 3,994,178 (GRCm39) |
Y342* |
probably null |
Het |
| Serpinb11 |
G |
A |
1: 107,307,718 (GRCm39) |
G383D |
probably damaging |
Het |
| Sh3tc2 |
C |
T |
18: 62,148,042 (GRCm39) |
Q1251* |
probably null |
Het |
| Skor1 |
A |
T |
9: 63,049,045 (GRCm39) |
D845E |
probably benign |
Het |
| Slc39a7 |
A |
G |
17: 34,248,551 (GRCm39) |
L364P |
probably damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,239 (GRCm39) |
I26V |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,099,924 (GRCm39) |
|
probably null |
Het |
| Spag9 |
T |
C |
11: 93,992,986 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,039,955 (GRCm39) |
S2200P |
probably damaging |
Het |
| Stx11 |
T |
C |
10: 12,817,070 (GRCm39) |
E218G |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,861 (GRCm39) |
N193S |
probably damaging |
Het |
| Tmem87b |
A |
T |
2: 128,690,974 (GRCm39) |
D525V |
possibly damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,782 (GRCm39) |
R103S |
possibly damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,932 (GRCm39) |
D190E |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,019 (GRCm39) |
D31V |
probably benign |
Het |
| Zbtb22 |
T |
A |
17: 34,137,553 (GRCm39) |
M566K |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,721,715 (GRCm39) |
H220L |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,610,137 (GRCm39) |
S529R |
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 |
|
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 |
|
|
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'- CAGGTTTAAGGTGTGAAACAGC -3'
(R):5'- TACCCACCACAATTTTGTTACTCAG -3'
Sequencing Primer
(F):5'- GTGTGAAACAGCTGTATTAGACAC -3'
(R):5'- GGCCTGGAACTTACTATGTAGACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation