Incidental Mutation 'R0323:Sf3b1'
ID |
64989 |
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 |
038533-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0323 (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 C
at 55058416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 58
(I58V)
|
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: I58V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000027127 Gene: ENSMUSG00000025982 AA Change: I58V
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 damaging
Transcript: ENSMUST00000191303
AA Change: I58V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139469 Gene: ENSMUSG00000025982 AA Change: I58V
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 |
0.1186 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 94.2%
- 20x: 86.1%
|
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
4931429P17Rik |
A |
C |
13: 48,114,493 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
A |
C |
11: 9,244,701 (GRCm39) |
D2188A |
probably benign |
Het |
Accsl |
T |
A |
2: 93,691,425 (GRCm39) |
Q351L |
probably benign |
Het |
Acot6 |
A |
C |
12: 84,155,953 (GRCm39) |
E300D |
probably benign |
Het |
Adgre1 |
T |
A |
17: 57,751,060 (GRCm39) |
I578N |
probably benign |
Het |
Agbl4 |
T |
C |
4: 111,474,419 (GRCm39) |
S403P |
probably damaging |
Het |
Agps |
T |
A |
2: 75,724,505 (GRCm39) |
Y506* |
probably null |
Het |
Appl1 |
A |
T |
14: 26,664,695 (GRCm39) |
V446D |
possibly damaging |
Het |
Arcn1 |
A |
T |
9: 44,670,356 (GRCm39) |
I90N |
probably damaging |
Het |
Aspscr1 |
G |
A |
11: 120,569,246 (GRCm39) |
V15I |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,492,487 (GRCm39) |
Y24C |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,701,323 (GRCm39) |
F345S |
possibly damaging |
Het |
Barx1 |
A |
G |
13: 48,819,430 (GRCm39) |
T243A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,997,331 (GRCm39) |
C1129* |
probably null |
Het |
Bmp2k |
A |
G |
5: 97,235,682 (GRCm39) |
|
probably benign |
Het |
Cacul1 |
A |
G |
19: 60,531,498 (GRCm39) |
I257T |
probably benign |
Het |
Chml |
A |
T |
1: 175,514,650 (GRCm39) |
F424I |
probably benign |
Het |
Clcn1 |
A |
T |
6: 42,287,074 (GRCm39) |
E710D |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cylc2 |
T |
A |
4: 51,228,477 (GRCm39) |
S183T |
unknown |
Het |
Dhtkd1 |
T |
A |
2: 5,919,699 (GRCm39) |
M561L |
probably benign |
Het |
Dnajc13 |
A |
G |
9: 104,034,091 (GRCm39) |
S2188P |
probably damaging |
Het |
Dyrk1b |
C |
A |
7: 27,884,781 (GRCm39) |
Q399K |
probably benign |
Het |
Erc1 |
T |
C |
6: 119,597,289 (GRCm39) |
K1003E |
probably damaging |
Het |
Ezr |
G |
A |
17: 7,022,164 (GRCm39) |
Q105* |
probably null |
Het |
Fam83d |
T |
A |
2: 158,627,467 (GRCm39) |
D385E |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,178,389 (GRCm39) |
C1950R |
probably damaging |
Het |
Fbxo32 |
A |
T |
15: 58,047,605 (GRCm39) |
I236N |
probably damaging |
Het |
Fcgr1 |
T |
C |
3: 96,193,145 (GRCm39) |
E284G |
possibly damaging |
Het |
Foxe3 |
T |
C |
4: 114,782,805 (GRCm39) |
N136D |
probably damaging |
Het |
Fscn2 |
A |
T |
11: 120,258,837 (GRCm39) |
I461F |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,816,240 (GRCm39) |
I3991T |
probably benign |
Het |
Galnt15 |
A |
T |
14: 31,770,042 (GRCm39) |
H249L |
probably damaging |
Het |
Gm10803 |
T |
A |
2: 93,394,415 (GRCm39) |
Y62* |
probably null |
Het |
Gm20730 |
G |
A |
6: 43,058,449 (GRCm39) |
|
probably null |
Het |
Gm4841 |
A |
G |
18: 60,403,718 (GRCm39) |
L125S |
possibly damaging |
Het |
Gmpr2 |
A |
G |
14: 55,910,203 (GRCm39) |
D11G |
probably damaging |
Het |
Gucy1b1 |
T |
A |
3: 81,945,463 (GRCm39) |
|
probably null |
Het |
Hhla1 |
C |
A |
15: 65,820,352 (GRCm39) |
V133F |
probably benign |
Het |
Hscb |
T |
C |
5: 110,982,556 (GRCm39) |
E177G |
possibly damaging |
Het |
Hyal4 |
A |
T |
6: 24,756,193 (GRCm39) |
N137I |
probably benign |
Het |
Lcp2 |
A |
G |
11: 34,004,322 (GRCm39) |
D53G |
probably damaging |
Het |
Ldb3 |
G |
A |
14: 34,266,002 (GRCm39) |
T531I |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,741,546 (GRCm39) |
K559E |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,299,983 (GRCm39) |
Y3023C |
probably damaging |
Het |
Lrrc59 |
A |
C |
11: 94,534,248 (GRCm39) |
T269P |
probably damaging |
Het |
Lrriq1 |
A |
T |
10: 103,057,150 (GRCm39) |
C217S |
possibly damaging |
Het |
Mmrn2 |
A |
T |
14: 34,119,991 (GRCm39) |
Q287L |
probably damaging |
Het |
Mplkip |
A |
G |
13: 17,871,565 (GRCm39) |
I159V |
possibly damaging |
Het |
Napg |
C |
T |
18: 63,120,034 (GRCm39) |
R149C |
probably damaging |
Het |
Nrxn1 |
A |
C |
17: 91,008,170 (GRCm39) |
|
probably null |
Het |
Or10ag60 |
G |
A |
2: 87,437,841 (GRCm39) |
M36I |
probably benign |
Het |
Or1e17 |
A |
T |
11: 73,831,773 (GRCm39) |
I234F |
probably benign |
Het |
Or6c70 |
T |
A |
10: 129,709,936 (GRCm39) |
Q230L |
probably damaging |
Het |
Or6d15 |
A |
T |
6: 116,559,562 (GRCm39) |
V115E |
probably damaging |
Het |
Or6n2 |
A |
G |
1: 173,896,893 (GRCm39) |
T10A |
probably benign |
Het |
Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
Palm3 |
T |
A |
8: 84,755,349 (GRCm39) |
V287D |
probably damaging |
Het |
Pde11a |
C |
T |
2: 75,877,118 (GRCm39) |
|
probably null |
Het |
Pdss2 |
T |
A |
10: 43,248,172 (GRCm39) |
H225Q |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,345,762 (GRCm39) |
D2755E |
probably benign |
Het |
Pla2g5 |
C |
T |
4: 138,527,967 (GRCm39) |
D100N |
probably benign |
Het |
Polrmt |
T |
C |
10: 79,577,832 (GRCm39) |
T287A |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,732,281 (GRCm39) |
I943V |
possibly damaging |
Het |
Pth2r |
A |
C |
1: 65,427,775 (GRCm39) |
I483L |
probably benign |
Het |
Qrsl1 |
A |
G |
10: 43,772,003 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
T |
12: 55,724,023 (GRCm39) |
I1548N |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,398,475 (GRCm39) |
E45G |
probably damaging |
Het |
Sh3d19 |
T |
A |
3: 86,033,978 (GRCm39) |
M777K |
probably benign |
Het |
Shc1 |
T |
C |
3: 89,331,020 (GRCm39) |
L106P |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,794,818 (GRCm39) |
H255R |
probably benign |
Het |
Slc28a3 |
C |
A |
13: 58,711,866 (GRCm39) |
G487* |
probably null |
Het |
Slc49a4 |
ACC |
AC |
16: 35,539,730 (GRCm39) |
|
probably null |
Het |
Slfn4 |
A |
T |
11: 83,077,777 (GRCm39) |
R188S |
probably damaging |
Het |
Slitrk5 |
A |
G |
14: 111,919,055 (GRCm39) |
D893G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,046,017 (GRCm39) |
T1594A |
probably damaging |
Het |
Srarp |
G |
A |
4: 141,160,690 (GRCm39) |
Q48* |
probably null |
Het |
Srf |
T |
C |
17: 46,860,415 (GRCm39) |
T456A |
possibly damaging |
Het |
Stx2 |
C |
T |
5: 129,065,967 (GRCm39) |
V230I |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,344,157 (GRCm39) |
P250Q |
possibly damaging |
Het |
Tnrc6c |
A |
G |
11: 117,630,707 (GRCm39) |
K1023E |
probably damaging |
Het |
Trpc6 |
A |
T |
9: 8,610,276 (GRCm39) |
H248L |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,643,537 (GRCm39) |
K441E |
probably damaging |
Het |
Uty |
T |
A |
Y: 1,169,979 (GRCm39) |
I326F |
probably damaging |
Het |
Vmn1r63 |
A |
G |
7: 5,806,335 (GRCm39) |
V99A |
probably benign |
Het |
Wnt11 |
A |
G |
7: 98,496,590 (GRCm39) |
K177E |
probably damaging |
Het |
Wwc1 |
T |
A |
11: 35,743,175 (GRCm39) |
E882V |
probably damaging |
Het |
Zfhx2 |
C |
A |
14: 55,303,436 (GRCm39) |
S1516I |
possibly damaging |
Het |
Zmpste24 |
A |
G |
4: 120,940,050 (GRCm39) |
Y199H |
probably 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 |
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 |
|
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 |
|
Posted On |
2013-08-08 |