Incidental Mutation 'R1568:Sf3b1'
| ID |
175390 |
| 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 |
039607-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 55058554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 12
(E12Q)
|
| 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: E12Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: E12Q
| 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 |
possibly damaging
Transcript: ENSMUST00000191303
AA Change: E12Q
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139469
Gene: ENSMUSG00000025982
AA Change: E12Q
| 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 |
0.1366 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
G |
8: 25,137,799 (GRCm39) |
|
probably null |
Het |
| Adgb |
A |
T |
10: 10,318,409 (GRCm39) |
Y138* |
probably null |
Het |
| Adra1d |
T |
C |
2: 131,388,092 (GRCm39) |
R488G |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,739 (GRCm39) |
G341E |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,808,838 (GRCm39) |
D690G |
probably damaging |
Het |
| Arhgef38 |
C |
T |
3: 132,838,225 (GRCm39) |
E21K |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,857,155 (GRCm39) |
M402V |
probably damaging |
Het |
| Atp8b4 |
G |
T |
2: 126,167,314 (GRCm39) |
H1062N |
probably benign |
Het |
| Bdnf |
A |
G |
2: 109,554,139 (GRCm39) |
H131R |
probably damaging |
Het |
| Cblb |
C |
T |
16: 51,956,192 (GRCm39) |
T265M |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,945,519 (GRCm39) |
M1011K |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,781,410 (GRCm39) |
Y711* |
probably null |
Het |
| Clca4a |
A |
G |
3: 144,658,690 (GRCm39) |
Y842H |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,475,310 (GRCm39) |
M1021K |
probably benign |
Het |
| Cpne8 |
G |
T |
15: 90,503,845 (GRCm39) |
R107S |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,359,123 (GRCm39) |
I298T |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,157,553 (GRCm39) |
K858R |
probably null |
Het |
| Fasn |
A |
T |
11: 120,704,075 (GRCm39) |
V1448E |
possibly damaging |
Het |
| Ghdc |
A |
G |
11: 100,659,331 (GRCm39) |
I322T |
probably benign |
Het |
| Gins2 |
T |
C |
8: 121,308,939 (GRCm39) |
D105G |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,215,576 (GRCm39) |
D975E |
probably benign |
Het |
| Klrc3 |
T |
C |
6: 129,616,510 (GRCm39) |
D169G |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,793,443 (GRCm39) |
S532C |
unknown |
Het |
| Lamp3 |
A |
T |
16: 19,492,275 (GRCm39) |
M323K |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,360,868 (GRCm39) |
I423M |
possibly damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,508,538 (GRCm39) |
T359S |
possibly damaging |
Het |
| Lrguk |
T |
A |
6: 34,063,373 (GRCm39) |
I466N |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,996,843 (GRCm39) |
M234R |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,261,122 (GRCm39) |
R1042* |
probably null |
Het |
| Nfia |
T |
G |
4: 97,999,461 (GRCm39) |
Y378D |
possibly damaging |
Het |
| Npffr1 |
T |
A |
10: 61,462,012 (GRCm39) |
S383T |
possibly damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,585 (GRCm39) |
V278F |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,293,977 (GRCm39) |
I199F |
probably benign |
Het |
| Or5b112 |
C |
A |
19: 13,319,539 (GRCm39) |
P139Q |
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,535,676 (GRCm39) |
L39P |
probably damaging |
Het |
| Osr1 |
G |
A |
12: 9,629,798 (GRCm39) |
|
probably null |
Het |
| Pde4b |
A |
C |
4: 102,454,896 (GRCm39) |
R375S |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,942,011 (GRCm39) |
E150G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,408,897 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
A |
G |
3: 136,634,305 (GRCm39) |
T422A |
probably benign |
Het |
| Proser1 |
T |
C |
3: 53,385,180 (GRCm39) |
V354A |
possibly damaging |
Het |
| Rgs20 |
G |
T |
1: 5,091,050 (GRCm39) |
R127S |
probably benign |
Het |
| Sanbr |
T |
C |
11: 23,539,971 (GRCm39) |
K48E |
probably damaging |
Het |
| Sec22a |
T |
C |
16: 35,167,998 (GRCm39) |
D171G |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,827,143 (GRCm39) |
E417G |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,158,895 (GRCm39) |
L32S |
probably damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,865,375 (GRCm39) |
S487T |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,737,925 (GRCm39) |
D265G |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,950 (GRCm39) |
T77A |
probably benign |
Het |
| Sybu |
G |
T |
15: 44,582,228 (GRCm39) |
S132* |
probably null |
Het |
| Virma |
T |
C |
4: 11,528,776 (GRCm39) |
S1288P |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,067 (GRCm39) |
V104D |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,358 (GRCm39) |
T19A |
probably benign |
Het |
| Vmn2r86 |
C |
T |
10: 130,289,010 (GRCm39) |
V164I |
probably benign |
Het |
| Wfdc13 |
G |
T |
2: 164,528,854 (GRCm39) |
A64S |
probably damaging |
Het |
| Zfp873 |
C |
A |
10: 81,896,113 (GRCm39) |
H318Q |
probably damaging |
Het |
| Zyg11a |
A |
G |
4: 108,040,843 (GRCm39) |
|
probably null |
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 |
|
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 |
2014-04-24 |
Incidental Mutation