Incidental Mutation 'R3911:Sf3b1'
| ID |
309358 |
| 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 |
040909-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3911 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 55058548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 14
(Q14*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
[ENSMUST00000191303]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027127
AA Change: Q14*
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: Q14*
| 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 null
Transcript: ENSMUST00000191303
AA Change: Q14*
|
| SMART Domains |
Protein: ENSMUSP00000139469
Gene: ENSMUSG00000025982
AA Change: Q14*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
A |
5: 124,227,909 (GRCm39) |
I111F |
probably benign |
Het |
| Abcc12 |
A |
C |
8: 87,255,048 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
G |
T |
17: 57,754,860 (GRCm39) |
V653L |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,593,707 (GRCm39) |
D230E |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
| Casp8 |
A |
T |
1: 58,872,864 (GRCm39) |
S267C |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
| Cd2ap |
T |
A |
17: 43,126,980 (GRCm39) |
|
probably null |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,728,897 (GRCm39) |
E1155D |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,866,375 (GRCm39) |
E841G |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,010,061 (GRCm39) |
R245H |
probably damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,380,842 (GRCm39) |
S128T |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,712,579 (GRCm39) |
I196N |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Edc3 |
A |
T |
9: 57,655,686 (GRCm39) |
I479F |
possibly damaging |
Het |
| Emg1 |
T |
A |
6: 124,682,009 (GRCm39) |
M172L |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,938,680 (GRCm39) |
V512I |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,197,731 (GRCm39) |
D27G |
probably benign |
Het |
| Fasl |
C |
A |
1: 161,615,760 (GRCm39) |
C32F |
probably benign |
Het |
| Flg |
A |
T |
3: 93,187,307 (GRCm39) |
H253L |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm17067 |
T |
A |
7: 42,360,104 (GRCm39) |
I43L |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,146,305 (GRCm39) |
Y183C |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,516,392 (GRCm39) |
P327T |
probably benign |
Het |
| Hepacam2 |
A |
G |
6: 3,494,477 (GRCm39) |
M1T |
probably null |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
A |
12: 119,131,740 (GRCm39) |
E635V |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,245,982 (GRCm39) |
V469A |
probably damaging |
Het |
| Kcnj15 |
C |
T |
16: 95,097,329 (GRCm39) |
T317I |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
T |
9: 110,265,151 (GRCm39) |
L285Q |
probably damaging |
Het |
| Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,670,863 (GRCm39) |
C203S |
unknown |
Het |
| Lsp1 |
C |
T |
7: 142,040,098 (GRCm39) |
S75F |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,567,580 (GRCm39) |
S1714P |
unknown |
Het |
| Mcm2 |
A |
G |
6: 88,865,234 (GRCm39) |
I481T |
probably damaging |
Het |
| Mcpt9 |
T |
C |
14: 56,265,136 (GRCm39) |
T122A |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,422,465 (GRCm39) |
R947W |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,586,616 (GRCm39) |
N10Y |
possibly damaging |
Het |
| Pank4 |
A |
G |
4: 155,054,058 (GRCm39) |
Y79C |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,670,171 (GRCm39) |
N386K |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,022,928 (GRCm39) |
M362V |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
| Pou4f1 |
C |
T |
14: 104,703,611 (GRCm39) |
A274T |
unknown |
Het |
| Proc |
A |
G |
18: 32,256,758 (GRCm39) |
L303P |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,517 (GRCm39) |
G821D |
possibly damaging |
Het |
| Rlim |
T |
C |
X: 103,006,267 (GRCm39) |
T545A |
probably benign |
Het |
| Serpinb6c |
T |
C |
13: 34,077,888 (GRCm39) |
N161D |
probably benign |
Het |
| Sh3d19 |
G |
A |
3: 86,014,534 (GRCm39) |
V442M |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,185,097 (GRCm39) |
I140V |
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
| Strap |
T |
G |
6: 137,712,380 (GRCm39) |
C10G |
probably damaging |
Het |
| Tcf7 |
C |
A |
11: 52,173,793 (GRCm39) |
|
probably benign |
Het |
| Tmem114 |
A |
T |
16: 8,230,054 (GRCm39) |
M116K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,988,884 (GRCm39) |
S113P |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
T |
C |
15: 102,022,272 (GRCm39) |
|
probably null |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,132,151 (GRCm39) |
V791D |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,614,635 (GRCm39) |
F785S |
possibly damaging |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Wdr35 |
A |
T |
12: 9,036,077 (GRCm39) |
I283F |
probably benign |
Het |
| Wnt10b |
G |
T |
15: 98,672,219 (GRCm39) |
A166E |
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 |
|
|
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'- CCTTGCCTCCTAGATAATCTGTAAC -3'
(R):5'- AAGTAGCTTTAATTTTCCCGTGGGG -3'
Sequencing Primer
(F):5'- CTTACATCTTCAAGTTCAGTTGCAG -3'
(R):5'- GAGATAGTAAATCAGCTTTGTGTTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation