Incidental Mutation 'R1381:Sf3b1'
| ID |
162977 |
| 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 |
039443-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1381 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55042313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 497
(I497L)
|
| 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: I497L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: I497L
| 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: ENSMUST00000188859
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.2%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,561,430 (GRCm39) |
F252L |
probably benign |
Het |
| Aadac |
A |
T |
3: 59,947,351 (GRCm39) |
M350L |
probably damaging |
Het |
| Agtrap |
G |
A |
4: 148,168,422 (GRCm39) |
T19I |
probably damaging |
Het |
| Apba3 |
C |
T |
10: 81,107,590 (GRCm39) |
T142M |
possibly damaging |
Het |
| Cd55b |
T |
A |
1: 130,347,412 (GRCm39) |
K133I |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,233,861 (GRCm39) |
C2312G |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,760,659 (GRCm39) |
V231A |
probably damaging |
Het |
| Chdh |
C |
A |
14: 29,758,791 (GRCm39) |
L579I |
probably damaging |
Het |
| Cyb5r4 |
T |
A |
9: 86,904,286 (GRCm39) |
S19T |
probably benign |
Het |
| Cyp2d22 |
C |
A |
15: 82,256,709 (GRCm39) |
R355L |
probably benign |
Het |
| Dach2 |
T |
C |
X: 112,208,472 (GRCm39) |
Y117H |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,692,769 (GRCm39) |
R93K |
probably benign |
Het |
| Dph2 |
G |
T |
4: 117,746,865 (GRCm39) |
L452I |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,812,099 (GRCm39) |
D634G |
probably benign |
Het |
| Fam217b |
G |
A |
2: 178,062,218 (GRCm39) |
V61I |
probably benign |
Het |
| Fbln7 |
A |
C |
2: 128,719,299 (GRCm39) |
Q32P |
probably damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,490,239 (GRCm39) |
Y46C |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,223,528 (GRCm39) |
I958N |
probably damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,765 (GRCm39) |
M455K |
possibly damaging |
Het |
| Gabrr2 |
G |
A |
4: 33,081,420 (GRCm39) |
G152D |
probably damaging |
Het |
| Galntl6 |
G |
T |
8: 58,925,989 (GRCm39) |
P92Q |
probably damaging |
Het |
| Gm5592 |
A |
T |
7: 40,935,596 (GRCm39) |
T33S |
probably benign |
Het |
| Grid2ip |
A |
T |
5: 143,348,406 (GRCm39) |
T166S |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,813,723 (GRCm39) |
S225L |
probably benign |
Het |
| Hadha |
G |
T |
5: 30,333,834 (GRCm39) |
T395K |
probably benign |
Het |
| Hars2 |
C |
T |
18: 36,922,270 (GRCm39) |
A295V |
possibly damaging |
Het |
| Hsf5 |
T |
A |
11: 87,528,995 (GRCm39) |
S577T |
probably benign |
Het |
| Ice2 |
A |
G |
9: 69,307,809 (GRCm39) |
Y31C |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,822,116 (GRCm39) |
I643N |
possibly damaging |
Het |
| Iglon5 |
A |
T |
7: 43,126,064 (GRCm39) |
D222E |
probably benign |
Het |
| Ilvbl |
C |
A |
10: 78,412,430 (GRCm39) |
S50R |
probably damaging |
Het |
| Invs |
C |
A |
4: 48,421,942 (GRCm39) |
S858* |
probably null |
Het |
| Ipo13 |
T |
G |
4: 117,761,592 (GRCm39) |
T508P |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,885,163 (GRCm39) |
I1015T |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,668,175 (GRCm39) |
W91R |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,760,063 (GRCm39) |
A906T |
probably benign |
Het |
| Klk4 |
G |
A |
7: 43,534,706 (GRCm39) |
V222M |
probably damaging |
Het |
| Lipo4 |
T |
A |
19: 33,476,741 (GRCm39) |
M336L |
probably benign |
Het |
| Lrig1 |
T |
C |
6: 94,583,111 (GRCm39) |
N1002D |
probably benign |
Het |
| Lzts3 |
A |
G |
2: 130,477,219 (GRCm39) |
S524P |
probably damaging |
Het |
| Maz |
A |
T |
7: 126,622,324 (GRCm39) |
C409* |
probably null |
Het |
| Mmp24 |
A |
T |
2: 155,656,047 (GRCm39) |
Q495L |
possibly damaging |
Het |
| Mrgpra9 |
C |
T |
7: 46,885,050 (GRCm39) |
V206I |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,983,933 (GRCm39) |
Y124H |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,551,517 (GRCm39) |
V1030D |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,150,544 (GRCm39) |
I2495F |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nrbf2 |
G |
A |
10: 67,103,605 (GRCm39) |
T166M |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,842,657 (GRCm39) |
D837G |
probably damaging |
Het |
| Nup210 |
C |
A |
6: 91,052,942 (GRCm39) |
G331V |
probably damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,320 (GRCm39) |
T275A |
probably benign |
Het |
| Or5w18 |
T |
C |
2: 87,633,480 (GRCm39) |
L245P |
probably damaging |
Het |
| Or6z7 |
A |
G |
7: 6,484,008 (GRCm39) |
|
probably null |
Het |
| Or8b56 |
T |
A |
9: 38,739,634 (GRCm39) |
S210T |
probably benign |
Het |
| Pabpc4 |
T |
A |
4: 123,182,852 (GRCm39) |
L163H |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,878,882 (GRCm39) |
Y126* |
probably null |
Het |
| Pdzd2 |
A |
G |
15: 12,385,525 (GRCm39) |
S1082P |
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,138,902 (GRCm39) |
I649M |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,914,757 (GRCm39) |
E589K |
probably damaging |
Het |
| Plppr1 |
C |
A |
4: 49,337,674 (GRCm39) |
T325N |
possibly damaging |
Het |
| Prss8 |
GCTGCCCAAGTCCC |
GC |
7: 127,529,021 (GRCm39) |
|
probably benign |
Het |
| Ptcd2 |
A |
G |
13: 99,481,105 (GRCm39) |
S25P |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,137 (GRCm39) |
V481E |
probably damaging |
Het |
| Sephs2 |
G |
T |
7: 126,872,139 (GRCm39) |
T318K |
probably damaging |
Het |
| Slc30a7 |
C |
T |
3: 115,750,519 (GRCm39) |
|
probably null |
Het |
| Slc66a2 |
T |
G |
18: 80,326,529 (GRCm39) |
S126A |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,608,228 (GRCm39) |
S96P |
probably damaging |
Het |
| Spata31d1c |
A |
C |
13: 65,184,368 (GRCm39) |
I637L |
probably benign |
Het |
| Ston2 |
A |
T |
12: 91,707,266 (GRCm39) |
S115T |
probably damaging |
Het |
| Tal2 |
A |
C |
4: 53,785,999 (GRCm39) |
E60A |
probably benign |
Het |
| Tdpoz3 |
A |
T |
3: 93,733,447 (GRCm39) |
T41S |
probably benign |
Het |
| Tent4b |
T |
A |
8: 88,969,937 (GRCm39) |
M203K |
possibly damaging |
Het |
| Tespa1 |
T |
C |
10: 130,196,560 (GRCm39) |
I166T |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,555,438 (GRCm39) |
C149S |
probably damaging |
Het |
| Trav6-1 |
T |
A |
14: 52,875,967 (GRCm39) |
|
probably benign |
Het |
| Txnl4a |
T |
C |
18: 80,250,479 (GRCm39) |
V25A |
probably benign |
Het |
| Utp4 |
C |
A |
8: 107,632,908 (GRCm39) |
P297Q |
probably benign |
Het |
| Vmn1r34 |
T |
C |
6: 66,613,922 (GRCm39) |
Y272C |
probably damaging |
Het |
| Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
| Vmn2r121 |
C |
A |
X: 123,037,837 (GRCm39) |
G728W |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,692 (GRCm39) |
S190T |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,475,435 (GRCm39) |
V926A |
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 |
|
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 |
|
|
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'- GCTCAAGCCCTGCCTGAACAA -3'
(R):5'- ACCAGCCATCTGGGAATCTTCCAT -3'
Sequencing Primer
(F):5'- tgggaacaaggggcagg -3'
(R):5'- GCTCTTTGTTTGGGAGTTACAAAT -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation