Incidental Mutation 'R1735:Sf3b1'
ID |
199604 |
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 |
039767-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1735 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55039811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 690
(I690T)
|
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: I690T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: I690T
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
|
Coding Region Coverage |
- 1x: 97.6%
- 3x: 97.0%
- 10x: 95.3%
- 20x: 92.1%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
A |
T |
12: 84,122,261 (GRCm39) |
I282F |
probably benign |
Het |
Adam19 |
C |
A |
11: 46,029,744 (GRCm39) |
Q730K |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,636,066 (GRCm39) |
V3481A |
possibly damaging |
Het |
Akr1c20 |
T |
C |
13: 4,537,207 (GRCm39) |
D316G |
probably benign |
Het |
Ap3b1 |
G |
A |
13: 94,630,225 (GRCm39) |
V827I |
unknown |
Het |
Aph1a |
T |
A |
3: 95,802,821 (GRCm39) |
D140E |
probably damaging |
Het |
Arhgef19 |
G |
T |
4: 140,976,929 (GRCm39) |
V502L |
possibly damaging |
Het |
Arl9 |
T |
C |
5: 77,154,473 (GRCm39) |
F67S |
probably damaging |
Het |
B430305J03Rik |
G |
A |
3: 61,271,361 (GRCm39) |
|
probably benign |
Het |
B4galnt2 |
A |
G |
11: 95,781,809 (GRCm39) |
F119L |
probably damaging |
Het |
Bcap29 |
T |
A |
12: 31,680,839 (GRCm39) |
N49I |
probably damaging |
Het |
Capn11 |
T |
A |
17: 45,943,327 (GRCm39) |
K616* |
probably null |
Het |
Cdh12 |
T |
A |
15: 21,520,452 (GRCm39) |
Y306N |
probably damaging |
Het |
Cep350 |
T |
A |
1: 155,828,960 (GRCm39) |
N315Y |
probably damaging |
Het |
Cfap300 |
A |
C |
9: 8,027,266 (GRCm39) |
S91A |
probably benign |
Het |
Cited2 |
C |
A |
10: 17,599,794 (GRCm39) |
P34Q |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,226,297 (GRCm39) |
D2930E |
probably benign |
Het |
Cog3 |
T |
A |
14: 75,966,761 (GRCm39) |
K470* |
probably null |
Het |
Commd10 |
A |
G |
18: 47,123,552 (GRCm39) |
T136A |
probably benign |
Het |
Csf2ra |
C |
A |
19: 61,214,782 (GRCm39) |
D181Y |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,982,610 (GRCm39) |
I2686F |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,081,620 (GRCm39) |
S415P |
probably benign |
Het |
Dsel |
A |
T |
1: 111,788,645 (GRCm39) |
F630Y |
probably damaging |
Het |
Ell |
T |
A |
8: 71,031,590 (GRCm39) |
I96N |
possibly damaging |
Het |
Ephx2 |
T |
A |
14: 66,325,752 (GRCm39) |
I358L |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,463,307 (GRCm39) |
I120T |
probably damaging |
Het |
Fam187a |
T |
C |
11: 102,776,606 (GRCm39) |
Y137H |
probably damaging |
Het |
Fastk |
T |
C |
5: 24,646,801 (GRCm39) |
E403G |
probably damaging |
Het |
Fcrlb |
C |
A |
1: 170,734,901 (GRCm39) |
V409F |
probably benign |
Het |
Flot2 |
G |
T |
11: 77,948,831 (GRCm39) |
A269S |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,563 (GRCm39) |
N419K |
probably damaging |
Het |
Hecw1 |
A |
T |
13: 14,552,350 (GRCm39) |
M61K |
probably null |
Het |
Htr2a |
T |
C |
14: 74,943,568 (GRCm39) |
F383L |
probably damaging |
Het |
Kctd6 |
C |
T |
14: 8,222,253 (GRCm38) |
R32C |
probably damaging |
Het |
Khdc1a |
A |
G |
1: 21,421,189 (GRCm39) |
T125A |
probably benign |
Het |
Klhl40 |
T |
C |
9: 121,609,004 (GRCm39) |
S390P |
probably benign |
Het |
Lonp1 |
G |
A |
17: 56,921,956 (GRCm39) |
T808I |
probably damaging |
Het |
Loxhd1 |
A |
C |
18: 77,492,585 (GRCm39) |
D1342A |
probably damaging |
Het |
Lrat |
T |
C |
3: 82,804,417 (GRCm39) |
I187V |
probably benign |
Het |
Lrif1 |
T |
C |
3: 106,643,162 (GRCm39) |
*238Q |
probably null |
Het |
Lrp2bp |
T |
C |
8: 46,465,025 (GRCm39) |
F48S |
probably benign |
Het |
Mafg |
A |
G |
11: 120,520,504 (GRCm39) |
M32T |
possibly damaging |
Het |
Map4 |
C |
T |
9: 109,864,023 (GRCm39) |
T416I |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,965,659 (GRCm39) |
F1236S |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,810,466 (GRCm39) |
D414G |
probably damaging |
Het |
Nhsl3 |
G |
T |
4: 129,117,370 (GRCm39) |
S476R |
probably damaging |
Het |
Nrip2 |
T |
G |
6: 128,382,037 (GRCm39) |
V50G |
probably damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,365 (GRCm39) |
K142I |
probably benign |
Het |
Or10j5 |
A |
G |
1: 172,784,374 (GRCm39) |
N4S |
probably benign |
Het |
Or52ae7 |
T |
A |
7: 103,119,353 (GRCm39) |
F36I |
possibly damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,207 (GRCm39) |
I35N |
probably damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,623,822 (GRCm39) |
H384L |
probably benign |
Het |
Pik3r1 |
A |
T |
13: 101,822,882 (GRCm39) |
Y607N |
probably damaging |
Het |
Plagl2 |
G |
A |
2: 153,074,397 (GRCm39) |
T168I |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,222 (GRCm39) |
S912P |
probably damaging |
Het |
Ppp1r16b |
A |
G |
2: 158,603,415 (GRCm39) |
K447E |
possibly damaging |
Het |
Prkd1 |
T |
C |
12: 50,388,822 (GRCm39) |
E907G |
possibly damaging |
Het |
Rabep2 |
A |
G |
7: 126,043,712 (GRCm39) |
R470G |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 157,001,730 (GRCm39) |
Y518C |
probably damaging |
Het |
Rbmxl1 |
A |
G |
8: 79,232,711 (GRCm39) |
Y211H |
probably damaging |
Het |
Rdh7 |
T |
C |
10: 127,720,454 (GRCm39) |
Y306C |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,276 (GRCm39) |
I220V |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,913,742 (GRCm39) |
N1045D |
possibly damaging |
Het |
Scube1 |
T |
C |
15: 83,491,638 (GRCm39) |
H952R |
probably damaging |
Het |
Sharpin |
T |
C |
15: 76,232,136 (GRCm39) |
K240R |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,420,656 (GRCm39) |
I1108T |
unknown |
Het |
Snip1 |
A |
G |
4: 124,964,994 (GRCm39) |
D133G |
probably benign |
Het |
St3gal3 |
T |
C |
4: 117,871,971 (GRCm39) |
Y77C |
probably damaging |
Het |
Sytl3 |
T |
C |
17: 6,982,880 (GRCm39) |
V112A |
probably benign |
Het |
Tnxb |
C |
T |
17: 34,936,944 (GRCm39) |
P3718S |
probably damaging |
Het |
Ttc24 |
A |
T |
3: 87,980,401 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
T |
2: 69,839,473 (GRCm39) |
E1529V |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,585,882 (GRCm39) |
H965L |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,903,343 (GRCm39) |
L781Q |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,811,045 (GRCm39) |
I401T |
probably benign |
Het |
Zc3h14 |
C |
T |
12: 98,724,839 (GRCm39) |
P167L |
probably damaging |
Het |
Zfp609 |
G |
T |
9: 65,610,374 (GRCm39) |
S863* |
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 |
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 |
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'- TGCCTCAGCCAAAGCAGCAATG -3'
(R):5'- GGATGAATATGTCCGAAACACAACAGC -3'
Sequencing Primer
(F):5'- AGCACTGATGGTCCGAAC -3'
(R):5'- TATGTCCGAAACACAACAGCTAGAG -3'
|
Posted On |
2014-05-23 |