Incidental Mutation 'R4706:Sf3b1'
ID |
355185 |
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 |
041954-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4706 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55029666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1112
(T1112M)
|
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: T1112M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: T1112M
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: ENSMUST00000185429
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190175
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,064,988 (GRCm39) |
N548K |
probably damaging |
Het |
Abcd2 |
T |
C |
15: 91,043,385 (GRCm39) |
D601G |
probably benign |
Het |
Afap1l2 |
A |
T |
19: 56,925,672 (GRCm39) |
I152N |
possibly damaging |
Het |
Ankrd52 |
T |
G |
10: 128,214,030 (GRCm39) |
M62R |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,305,946 (GRCm39) |
T1317S |
probably damaging |
Het |
Apol7c |
T |
A |
15: 77,409,923 (GRCm39) |
Q341L |
probably benign |
Het |
Arhgef4 |
C |
T |
1: 34,771,298 (GRCm39) |
R1202W |
probably benign |
Het |
B4galnt2 |
C |
T |
11: 95,766,923 (GRCm39) |
|
probably null |
Het |
Cecr2 |
A |
T |
6: 120,732,539 (GRCm39) |
E477V |
possibly damaging |
Het |
Chmp7 |
A |
T |
14: 69,956,010 (GRCm39) |
D419E |
probably benign |
Het |
Cmip |
A |
C |
8: 118,103,893 (GRCm39) |
K127T |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,438,544 (GRCm39) |
V3041A |
probably benign |
Het |
Cyp1b1 |
T |
A |
17: 80,020,771 (GRCm39) |
I324F |
possibly damaging |
Het |
Dapp1 |
T |
C |
3: 137,638,928 (GRCm39) |
D225G |
probably benign |
Het |
Ddx10 |
T |
C |
9: 53,145,231 (GRCm39) |
T249A |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,361,878 (GRCm39) |
Y213H |
probably damaging |
Het |
Eef1a2 |
T |
C |
2: 180,797,150 (GRCm39) |
D17G |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,212,069 (GRCm39) |
I848V |
probably benign |
Het |
Fbxw18 |
A |
G |
9: 109,519,585 (GRCm39) |
I307T |
probably benign |
Het |
Fxr1 |
T |
A |
3: 34,118,278 (GRCm39) |
D500E |
probably damaging |
Het |
Gars1 |
G |
A |
6: 55,046,363 (GRCm39) |
G492D |
probably damaging |
Het |
Gria2 |
A |
T |
3: 80,648,297 (GRCm39) |
D146E |
probably benign |
Het |
Gstz1 |
A |
G |
12: 87,205,894 (GRCm39) |
N37S |
probably benign |
Het |
Hnrnph3 |
C |
A |
10: 62,853,059 (GRCm39) |
G194V |
probably damaging |
Het |
Il2rb |
T |
C |
15: 78,370,600 (GRCm39) |
R172G |
possibly damaging |
Het |
Itga11 |
T |
A |
9: 62,662,578 (GRCm39) |
V517D |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,561,683 (GRCm39) |
I462T |
probably benign |
Het |
Klf6 |
T |
A |
13: 5,911,639 (GRCm39) |
M1K |
probably null |
Het |
Lrp8 |
G |
A |
4: 107,718,470 (GRCm39) |
A817T |
probably benign |
Het |
Map3k5 |
T |
A |
10: 19,934,684 (GRCm39) |
Y509N |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,163,671 (GRCm39) |
S1073F |
probably damaging |
Het |
Mme |
A |
G |
3: 63,256,133 (GRCm39) |
D531G |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mroh7 |
A |
T |
4: 106,548,821 (GRCm39) |
V1014E |
possibly damaging |
Het |
Msantd5l |
A |
T |
11: 51,144,668 (GRCm39) |
F204L |
possibly damaging |
Het |
Myo1d |
C |
T |
11: 80,557,467 (GRCm39) |
C491Y |
probably damaging |
Het |
Ncoa3 |
C |
A |
2: 165,889,799 (GRCm39) |
D61E |
probably damaging |
Het |
Nmrk1 |
A |
G |
19: 18,622,491 (GRCm39) |
E190G |
probably benign |
Het |
Nr4a2 |
G |
T |
2: 57,002,225 (GRCm39) |
P13H |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,178,943 (GRCm39) |
L671P |
probably damaging |
Het |
Omt2a |
T |
C |
9: 78,220,352 (GRCm39) |
I16V |
probably benign |
Het |
Or4c116 |
A |
T |
2: 88,942,576 (GRCm39) |
F93L |
probably damaging |
Het |
Or51f2 |
T |
A |
7: 102,526,640 (GRCm39) |
H104Q |
probably damaging |
Het |
Or6n1 |
A |
G |
1: 173,917,268 (GRCm39) |
I221V |
probably damaging |
Het |
Or8k24 |
G |
A |
2: 86,216,732 (GRCm39) |
T10I |
probably benign |
Het |
Or8s5 |
G |
T |
15: 98,238,659 (GRCm39) |
H70Q |
possibly damaging |
Het |
Osbpl9 |
A |
T |
4: 109,013,884 (GRCm39) |
I70N |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,764,221 (GRCm39) |
L4231F |
unknown |
Het |
Per1 |
C |
T |
11: 68,991,444 (GRCm39) |
|
probably benign |
Het |
Perm1 |
G |
T |
4: 156,301,531 (GRCm39) |
C25F |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,844,687 (GRCm39) |
V1424A |
probably damaging |
Het |
Plxnb1 |
T |
G |
9: 108,941,096 (GRCm39) |
L1625R |
probably damaging |
Het |
Ppid |
G |
A |
3: 79,506,359 (GRCm39) |
V216I |
probably benign |
Het |
Ppp4r3a |
C |
T |
12: 101,008,175 (GRCm39) |
G754D |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,270,212 (GRCm39) |
W1299L |
probably damaging |
Het |
Ptprn2 |
C |
A |
12: 116,835,714 (GRCm39) |
Q350K |
probably benign |
Het |
Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
Rbm8a |
G |
A |
3: 96,537,368 (GRCm39) |
|
probably benign |
Het |
Relch |
T |
A |
1: 105,620,004 (GRCm39) |
M353K |
probably benign |
Het |
Ros1 |
A |
G |
10: 51,977,990 (GRCm39) |
S1419P |
possibly damaging |
Het |
Rps6ka5 |
C |
T |
12: 100,564,144 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
A |
12: 100,547,578 (GRCm39) |
I311F |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,965,539 (GRCm39) |
|
probably null |
Het |
Sacs |
A |
G |
14: 61,441,722 (GRCm39) |
E1256G |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,029,372 (GRCm39) |
V467A |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,149,427 (GRCm39) |
N811K |
possibly damaging |
Het |
Shisa5 |
T |
A |
9: 108,885,128 (GRCm39) |
C133S |
probably null |
Het |
Slc16a6 |
A |
G |
11: 109,354,193 (GRCm39) |
S59P |
probably benign |
Het |
Slc25a31 |
G |
A |
3: 40,670,975 (GRCm39) |
A89T |
probably damaging |
Het |
Slc6a1 |
G |
T |
6: 114,284,713 (GRCm39) |
R257L |
possibly damaging |
Het |
Sntb1 |
C |
T |
15: 55,612,670 (GRCm39) |
V303M |
probably benign |
Het |
Snx20 |
A |
G |
8: 89,354,439 (GRCm39) |
V97A |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,285,136 (GRCm39) |
N285K |
probably benign |
Het |
Vmn2r98 |
T |
G |
17: 19,290,007 (GRCm39) |
S514R |
probably damaging |
Het |
Zfp28 |
A |
T |
7: 6,392,793 (GRCm39) |
E156D |
probably damaging |
Het |
Zfp39 |
A |
G |
11: 58,793,633 (GRCm39) |
V35A |
probably benign |
Het |
Zfp536 |
A |
C |
7: 37,268,891 (GRCm39) |
I175S |
probably damaging |
Het |
Zic5 |
A |
T |
14: 122,696,969 (GRCm39) |
S549T |
unknown |
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 |
|
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'- ATTAACGCATCCTCAAGTAAAGGCG -3'
(R):5'- TGGAAGTTGTAATGACATCCTTTAGTG -3'
Sequencing Primer
(F):5'- GCGTCACAGCATAGATGTAGTCTTTC -3'
(R):5'- CCATTCGCTTGCAGGTT -3'
|
Posted On |
2015-10-21 |