Incidental Mutation 'R5636:Sf3b1'
| ID |
501258 |
| 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 |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54985169-55027481 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54997193 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 907
(D907G)
|
| 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: D907G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: D907G
| 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: ENSMUST00000185429
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,944,982 (GRCm38) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,301,536 (GRCm38) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,672,056 (GRCm38) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,869,025 (GRCm38) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,428,309 (GRCm38) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,704,372 (GRCm38) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 75,037,933 (GRCm38) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,288,219 (GRCm38) |
Y74C |
probably damaging |
Het |
| Atp6v0b |
T |
C |
4: 117,886,385 (GRCm38) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,388,825 (GRCm38) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,602,723 (GRCm38) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,014,442 (GRCm38) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,033,742 (GRCm38) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,438,306 (GRCm38) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 17,948,585 (GRCm38) |
R41C |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,282,481 (GRCm38) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,511,018 (GRCm38) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,956,686 (GRCm38) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,722,058 (GRCm38) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,130,945 (GRCm38) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,163,456 (GRCm38) |
P2047S |
possibly damaging |
Het |
| Islr2 |
T |
C |
9: 58,201,301 (GRCm38) |
T35A |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,987,078 (GRCm38) |
D644G |
probably benign |
Het |
| Lrrc6 |
A |
T |
15: 66,500,816 (GRCm38) |
|
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm38) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,901,240 (GRCm38) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 48,198,470 (GRCm38) |
C237R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,797,528 (GRCm38) |
M264T |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,502,676 (GRCm38) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,225,294 (GRCm38) |
L1010Q |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,349,399 (GRCm38) |
K145M |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,648,188 (GRCm38) |
K755* |
probably null |
Het |
| Olfr1501 |
C |
T |
19: 13,838,337 (GRCm38) |
V279M |
possibly damaging |
Het |
| Olfr332 |
T |
C |
11: 58,490,051 (GRCm38) |
K235E |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,461,560 (GRCm38) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 50,956,192 (GRCm38) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 109,038,820 (GRCm38) |
T242I |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,436,629 (GRCm38) |
R1814K |
probably benign |
Het |
| Rnf213 |
A |
C |
11: 119,436,905 (GRCm38) |
Q1906P |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,997,954 (GRCm38) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,380,594 (GRCm38) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,275,014 (GRCm38) |
Q88R |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,950,193 (GRCm38) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,554,216 (GRCm38) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,517,829 (GRCm38) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 94,069,012 (GRCm38) |
D342E |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 120,057,404 (GRCm38) |
|
probably benign |
Het |
| Stam |
G |
T |
2: 14,117,427 (GRCm38) |
M112I |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 157,100,224 (GRCm38) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm38) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,696,909 (GRCm38) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,983,996 (GRCm38) |
K2302N |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,954,429 (GRCm38) |
H605R |
probably 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 |
|
R0718:Sf3b1
|
UTSW |
1 |
55,019,385 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CTGCCCAATACTTCAGGGTAC -3'
(R):5'- ACCAGTTGTCCTCAGTTTAACATG -3'
Sequencing Primer
(F):5'- AGGGTACTCTTCACCCAAATATTC -3'
(R):5'- ACAAATGGGATGTTTGGGT -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation