Incidental Mutation 'R7302:Sf3b1'
| ID |
567025 |
| 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 |
045406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7302 (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 55055949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 97
(S97P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(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: S97P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: S97P
| 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 |
possibly damaging
Transcript: ENSMUST00000191303
AA Change: S97P
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139469
Gene: ENSMUSG00000025982
AA Change: S97P
| 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 |
0.1077 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,306 (GRCm39) |
P69S |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,405,694 (GRCm39) |
|
probably benign |
Het |
| Bcl7a |
T |
A |
5: 123,482,757 (GRCm39) |
M22K |
probably benign |
Het |
| C6 |
T |
A |
15: 4,826,432 (GRCm39) |
C672S |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,954,738 (GRCm39) |
R133H |
probably damaging |
Het |
| Ccdc102a |
A |
G |
8: 95,640,066 (GRCm39) |
L76P |
probably damaging |
Het |
| Cfhr4 |
T |
C |
1: 139,667,436 (GRCm39) |
|
probably null |
Het |
| Cotl1 |
T |
G |
8: 120,537,040 (GRCm39) |
I125L |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,504,906 (GRCm39) |
M868K |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,136,852 (GRCm39) |
I1374T |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,386,814 (GRCm39) |
Y646C |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,834,593 (GRCm39) |
K762E |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,864,310 (GRCm39) |
V205A |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,009 (GRCm39) |
M229L |
probably benign |
Het |
| Fancf |
C |
A |
7: 51,511,452 (GRCm39) |
R184L |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,353,363 (GRCm39) |
E86D |
probably damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,259 (GRCm39) |
D341G |
unknown |
Het |
| Gm14410 |
A |
T |
2: 176,885,648 (GRCm39) |
H205Q |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,848,666 (GRCm39) |
N181D |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,115 (GRCm39) |
Y285C |
probably damaging |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,739 (GRCm39) |
M113V |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,701,985 (GRCm39) |
V139A |
probably benign |
Het |
| Limch1 |
A |
T |
5: 67,116,942 (GRCm39) |
Y119F |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,374,856 (GRCm39) |
R4534Q |
probably benign |
Het |
| Mbd3l2 |
G |
A |
9: 18,355,738 (GRCm39) |
S21N |
probably benign |
Het |
| Mob1b |
A |
G |
5: 88,901,036 (GRCm39) |
N148D |
probably benign |
Het |
| Mylk4 |
A |
T |
13: 32,904,548 (GRCm39) |
D195E |
probably benign |
Het |
| Ndufa7 |
T |
C |
17: 34,048,687 (GRCm39) |
S50P |
probably benign |
Het |
| Nectin4 |
G |
T |
1: 171,214,203 (GRCm39) |
E453* |
probably null |
Het |
| Nell1 |
T |
G |
7: 50,506,017 (GRCm39) |
F741L |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,933 (GRCm39) |
H369L |
possibly damaging |
Het |
| Plin4 |
T |
A |
17: 56,409,330 (GRCm39) |
M1297L |
probably benign |
Het |
| Pnp |
G |
A |
14: 51,188,404 (GRCm39) |
V193M |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,241,773 (GRCm39) |
S849R |
unknown |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,012 (GRCm39) |
E981G |
unknown |
Het |
| Sbsn |
T |
C |
7: 30,451,309 (GRCm39) |
F108S |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,636,017 (GRCm39) |
M310T |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,525 (GRCm39) |
V313A |
probably benign |
Het |
| Slc25a10 |
G |
T |
11: 120,382,782 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,806,828 (GRCm39) |
V705E |
possibly damaging |
Het |
| Surf2 |
G |
T |
2: 26,808,894 (GRCm39) |
C116F |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,698 (GRCm39) |
I175T |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,897,875 (GRCm39) |
T841I |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,246 (GRCm39) |
D693G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,393,973 (GRCm39) |
L64P |
probably damaging |
Het |
| Vmn1r77 |
C |
T |
7: 11,775,983 (GRCm39) |
S253F |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,423 (GRCm39) |
M512T |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,800,036 (GRCm39) |
G89D |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,205 (GRCm39) |
Y825N |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,032,252 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,297,942 (GRCm39) |
F1916I |
probably 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 |
|
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'- TTCCAAAACTCCAGGTTTGGC -3'
(R):5'- AAAGACAGTGGTGGCTGTATGTTC -3'
Sequencing Primer
(F):5'- CCAAAACTCCAGGTTTGGCTTAATG -3'
(R):5'- GATGTGTAAACATGTTGTTATGGAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation