Incidental Mutation 'R6149:Sf3b1'
| ID |
489046 |
| 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 |
044296-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6149 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
55024328-55066640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55046666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 293
(W293R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027127]
[ENSMUST00000191303]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027127
AA Change: W293R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: W293R
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191303
|
| SMART Domains |
Protein: ENSMUSP00000139469
Gene: ENSMUSG00000025982
| 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 |
0.8355 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
99% (69/70) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
T |
A |
1: 161,777,211 (GRCm39) |
R115S |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,752,018 (GRCm39) |
K589E |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,330,893 (GRCm39) |
L74Q |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,842,451 (GRCm39) |
I77V |
probably benign |
Het |
| Best2 |
T |
C |
8: 85,739,896 (GRCm39) |
E57G |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,516,098 (GRCm39) |
I578K |
probably damaging |
Het |
| Chsy1 |
A |
G |
7: 65,775,133 (GRCm39) |
Y154C |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,090,270 (GRCm39) |
V74A |
probably damaging |
Het |
| Ckb |
T |
C |
12: 111,638,248 (GRCm39) |
S49G |
probably damaging |
Het |
| Crtac1 |
A |
G |
19: 42,272,048 (GRCm39) |
Y632H |
unknown |
Het |
| Ern1 |
C |
A |
11: 106,296,641 (GRCm39) |
E770* |
probably null |
Het |
| Fam114a2 |
A |
C |
11: 57,378,415 (GRCm39) |
V450G |
probably benign |
Het |
| Fgf15 |
C |
T |
7: 144,453,506 (GRCm39) |
Q125* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,458,762 (GRCm39) |
S2036T |
probably damaging |
Het |
| Fxr2 |
G |
A |
11: 69,540,030 (GRCm39) |
V296I |
probably benign |
Het |
| Gm15264 |
C |
A |
3: 94,640,736 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
A |
T |
1: 173,421,581 (GRCm39) |
S103T |
probably benign |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,472 (GRCm39) |
Q57H |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,530,969 (GRCm39) |
Y435C |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,573,641 (GRCm39) |
W799R |
probably damaging |
Het |
| Lnp1 |
C |
T |
16: 56,737,735 (GRCm39) |
E118K |
probably benign |
Het |
| Lrif1 |
A |
C |
3: 106,639,643 (GRCm39) |
K243Q |
possibly damaging |
Het |
| Lrp1b |
G |
T |
2: 40,765,165 (GRCm39) |
|
probably null |
Het |
| Lvrn |
G |
A |
18: 47,017,499 (GRCm39) |
V610I |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,074,679 (GRCm39) |
K67R |
possibly damaging |
Het |
| Midn |
T |
C |
10: 79,990,291 (GRCm39) |
S278P |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,377,885 (GRCm39) |
V35A |
possibly damaging |
Het |
| Nynrin |
A |
T |
14: 56,091,780 (GRCm39) |
Q32L |
possibly damaging |
Het |
| Oog1 |
C |
T |
12: 87,653,043 (GRCm39) |
T113I |
possibly damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,628 (GRCm39) |
L139P |
probably damaging |
Het |
| Or10j3 |
G |
T |
1: 173,031,582 (GRCm39) |
V220F |
probably benign |
Het |
| Or4x11 |
C |
T |
2: 89,867,860 (GRCm39) |
A199V |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,723 (GRCm39) |
I195F |
probably benign |
Het |
| Or6a2 |
T |
C |
7: 106,600,807 (GRCm39) |
I87V |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,717,314 (GRCm39) |
V386I |
probably benign |
Het |
| Patj |
A |
G |
4: 98,312,562 (GRCm39) |
N300S |
possibly damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,612,208 (GRCm39) |
D389E |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,488,939 (GRCm39) |
I699V |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,882,771 (GRCm39) |
V790A |
probably benign |
Het |
| Plppr4 |
A |
T |
3: 117,116,043 (GRCm39) |
C605S |
probably benign |
Het |
| Ppl |
G |
A |
16: 4,925,460 (GRCm39) |
Q60* |
probably null |
Het |
| Ppp1r1c |
A |
G |
2: 79,586,810 (GRCm39) |
K52R |
possibly damaging |
Het |
| Pramel29 |
A |
G |
4: 143,933,983 (GRCm39) |
S375P |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,319,780 (GRCm39) |
E217K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,892 (GRCm39) |
I560T |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,683,903 (GRCm39) |
S3054G |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,102,343 (GRCm39) |
L273H |
probably damaging |
Het |
| Sik1 |
A |
T |
17: 32,067,771 (GRCm39) |
S435T |
possibly damaging |
Het |
| Slc2a12 |
G |
T |
10: 22,540,401 (GRCm39) |
M85I |
probably benign |
Het |
| Stk36 |
T |
C |
1: 74,673,388 (GRCm39) |
S1094P |
probably benign |
Het |
| Tctn1 |
A |
T |
5: 122,384,649 (GRCm39) |
Y393N |
probably benign |
Het |
| Tex9 |
C |
T |
9: 72,369,282 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,899,942 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
A |
T |
16: 45,494,268 (GRCm39) |
C412* |
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,396,934 (GRCm39) |
T399A |
probably benign |
Het |
| Trim25 |
T |
A |
11: 88,906,362 (GRCm39) |
V387D |
probably benign |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Vill |
T |
G |
9: 118,887,482 (GRCm39) |
V82G |
possibly damaging |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,054 (GRCm39) |
D261G |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r111 |
G |
A |
17: 22,767,796 (GRCm39) |
T567I |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,786,400 (GRCm39) |
Y401C |
probably damaging |
Het |
| Zc3h11a |
G |
A |
1: 133,566,613 (GRCm39) |
R69* |
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 |
|
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 |
|
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'- TAGGTTTAGGCACATCCACATC -3'
(R):5'- AAATTCCTTTGCTTTGTACAGACCC -3'
Sequencing Primer
(F):5'- GTTTAGGCACATCCACATCAGCTG -3'
(R):5'- TTGTACAGACCCCTGGGCATAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation