Incidental Mutation 'R1625:Sf3b1'
| ID |
174934 |
| 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 |
039662-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1625 (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 55058536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 18
(I18F)
|
| 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: I18F
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: I18F
| 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: I18F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139469
Gene: ENSMUSG00000025982
AA Change: I18F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
75 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,857,947 (GRCm39) |
M605L |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,184,567 (GRCm39) |
S1031T |
probably damaging |
Het |
| Acot7 |
T |
A |
4: 152,270,748 (GRCm39) |
C31S |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,773,263 (GRCm39) |
|
probably null |
Het |
| Adipor1 |
T |
C |
1: 134,351,802 (GRCm39) |
F83S |
possibly damaging |
Het |
| Agrn |
G |
A |
4: 156,257,317 (GRCm39) |
S1171L |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,105 (GRCm39) |
L10Q |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,159 (GRCm39) |
C377S |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,361,699 (GRCm39) |
V721D |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,408,777 (GRCm39) |
A2555T |
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,380 (GRCm39) |
L791Q |
probably damaging |
Het |
| Car11 |
A |
G |
7: 45,350,731 (GRCm39) |
K76E |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,648,068 (GRCm39) |
M1925K |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,866,001 (GRCm39) |
L418Q |
probably damaging |
Het |
| Ccl9 |
G |
A |
11: 83,466,736 (GRCm39) |
R64W |
probably damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,431,668 (GRCm38) |
Y655H |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,739,527 (GRCm39) |
K1325N |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,881,614 (GRCm39) |
P305L |
possibly damaging |
Het |
| Ddx11 |
C |
T |
17: 66,457,692 (GRCm39) |
T859I |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,850,433 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,831,839 (GRCm39) |
V570A |
probably benign |
Het |
| Fermt1 |
T |
A |
2: 132,764,751 (GRCm39) |
I369F |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,861,849 (GRCm39) |
Y2161C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,857,837 (GRCm39) |
P2044T |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,009,362 (GRCm39) |
I549V |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,246,282 (GRCm39) |
S1020N |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,826,378 (GRCm39) |
S1360P |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,350 (GRCm39) |
Y332C |
probably damaging |
Het |
| Ltc4s |
C |
A |
11: 50,128,215 (GRCm39) |
A32S |
possibly damaging |
Het |
| Mgrn1 |
T |
C |
16: 4,728,627 (GRCm39) |
L84P |
probably damaging |
Het |
| Muc2 |
C |
G |
7: 141,283,405 (GRCm39) |
C672W |
probably damaging |
Het |
| Mvp |
A |
T |
7: 126,600,845 (GRCm39) |
V52E |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,144,420 (GRCm39) |
T269A |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,018,891 (GRCm39) |
D684E |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,168,878 (GRCm39) |
D316G |
probably benign |
Het |
| Or12e7 |
T |
A |
2: 87,288,016 (GRCm39) |
I169K |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,004,071 (GRCm39) |
M161V |
probably benign |
Het |
| Or7d11 |
A |
G |
9: 19,966,678 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,274,971 (GRCm39) |
D520V |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,244,741 (GRCm39) |
D904E |
probably damaging |
Het |
| Pitpnm2 |
T |
A |
5: 124,271,496 (GRCm39) |
D359V |
probably benign |
Het |
| Ppih |
T |
C |
4: 119,175,779 (GRCm39) |
I69V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,865 (GRCm39) |
E96G |
possibly damaging |
Het |
| Retreg3 |
C |
A |
11: 100,992,875 (GRCm39) |
M1I |
probably null |
Het |
| Rfpl4 |
C |
T |
7: 5,118,409 (GRCm39) |
V54I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,993,652 (GRCm39) |
I855T |
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,117,554 (GRCm39) |
I748N |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,807,517 (GRCm39) |
N441K |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,499 (GRCm39) |
N74D |
unknown |
Het |
| Slc17a6 |
C |
A |
7: 51,311,208 (GRCm39) |
F307L |
probably benign |
Het |
| Slc25a13 |
G |
A |
6: 6,096,675 (GRCm39) |
L410F |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,262,625 (GRCm39) |
V38E |
probably damaging |
Het |
| Slc8a1 |
T |
A |
17: 81,956,670 (GRCm39) |
T123S |
probably damaging |
Het |
| Slc9a5 |
C |
A |
8: 106,094,755 (GRCm39) |
T782K |
possibly damaging |
Het |
| Spmip7 |
C |
A |
11: 11,438,644 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
C |
A |
11: 104,077,995 (GRCm39) |
T265K |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,788 (GRCm39) |
K283R |
probably benign |
Het |
| Ssr1 |
C |
T |
13: 38,173,479 (GRCm39) |
|
probably null |
Het |
| Stard3nl |
T |
C |
13: 19,556,754 (GRCm39) |
|
probably null |
Het |
| Timeless |
G |
T |
10: 128,076,493 (GRCm39) |
S134I |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,494,476 (GRCm39) |
F760L |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,706,333 (GRCm39) |
I368V |
probably benign |
Het |
| Txnrd2 |
G |
T |
16: 18,257,116 (GRCm39) |
W144L |
probably damaging |
Het |
| Unc5d |
T |
C |
8: 29,173,234 (GRCm39) |
E668G |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,570,936 (GRCm39) |
|
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vmn1r66 |
G |
T |
7: 10,008,316 (GRCm39) |
T239K |
probably benign |
Het |
| Vps39 |
C |
T |
2: 120,154,106 (GRCm39) |
V630M |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,819,158 (GRCm39) |
T22A |
probably benign |
Het |
| Zfp7 |
T |
A |
15: 76,765,374 (GRCm39) |
D22E |
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 |
|
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 |
|
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'- GCCCAGTGAGGACCCTAGTATTAAGC -3'
(R):5'- TCCTTTCACCTGATGAGGTCAGGAG -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GAGGTCAGGAGATACATGTGTAGAT -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation