Incidental Mutation 'R2225:Sf3b3'
| ID |
239674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf3b3
|
| Ensembl Gene |
ENSMUSG00000033732 |
| Gene Name |
splicing factor 3b, subunit 3 |
| Synonyms |
SAP130, 5730409A01Rik, 1810061H24Rik, D8Ertd633e, RSE1 |
| MMRRC Submission |
040226-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R2225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111537123-111573578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111541205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 970
(Y970C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042012]
|
| AlphaFold |
Q921M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042012
AA Change: Y970C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: Y970C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SH3
|
17 |
70 |
5e-13 |
BLAST |
|
Pfam:MMS1_N
|
76 |
592 |
3.2e-185 |
PFAM |
|
low complexity region
|
716 |
728 |
N/A |
INTRINSIC |
|
Pfam:CPSF_A
|
863 |
1184 |
4.3e-104 |
PFAM |
|
| Meta Mutation Damage Score |
0.9218 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 3 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. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
C |
6: 88,813,349 (GRCm39) |
L439R |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
| Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
| Akap9 |
A |
T |
5: 4,127,271 (GRCm39) |
R3706S |
probably damaging |
Het |
| Btd |
A |
G |
14: 31,389,017 (GRCm39) |
D246G |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,423,704 (GRCm39) |
E899G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,198,941 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,375,041 (GRCm39) |
I2071T |
probably damaging |
Het |
| Cwc22 |
T |
A |
2: 77,738,495 (GRCm39) |
|
probably benign |
Het |
| Ddah2 |
T |
A |
17: 35,279,187 (GRCm39) |
I16N |
probably damaging |
Het |
| Dld |
T |
G |
12: 31,391,448 (GRCm39) |
M123L |
probably benign |
Het |
| Eif5b |
A |
T |
1: 38,058,304 (GRCm39) |
K202I |
unknown |
Het |
| Gm6430 |
T |
C |
1: 96,953,441 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,177,760 (GRCm39) |
V117M |
probably benign |
Het |
| Htra4 |
T |
C |
8: 25,515,736 (GRCm39) |
D434G |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,556,336 (GRCm39) |
M726V |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,651,534 (GRCm39) |
V886A |
possibly damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Limk1 |
G |
T |
5: 134,690,410 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
C |
8: 36,703,252 (GRCm39) |
D308G |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,265 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,587,316 (GRCm39) |
C2719Y |
possibly damaging |
Het |
| Mvb12b |
G |
A |
2: 33,730,211 (GRCm39) |
T60I |
possibly damaging |
Het |
| Myh2 |
C |
T |
11: 67,084,555 (GRCm39) |
T1698M |
probably benign |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,833 (GRCm39) |
K78R |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
| Or8g33 |
T |
C |
9: 39,337,915 (GRCm39) |
I151V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,059,760 (GRCm39) |
P1190S |
probably benign |
Het |
| Reck |
A |
G |
4: 43,922,837 (GRCm39) |
T371A |
probably benign |
Het |
| Rnf185 |
T |
C |
11: 3,382,445 (GRCm39) |
D44G |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,095 (GRCm39) |
E1196G |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,170 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,037,979 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tbxa2r |
A |
G |
10: 81,168,983 (GRCm39) |
Y224C |
probably benign |
Het |
| Tlr5 |
A |
G |
1: 182,799,941 (GRCm39) |
|
probably benign |
Het |
| Tmem270 |
A |
G |
5: 134,935,492 (GRCm39) |
L21P |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,206,218 (GRCm39) |
E359G |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,314,598 (GRCm39) |
|
probably null |
Het |
| Wiz |
C |
T |
17: 32,575,899 (GRCm39) |
V836M |
probably damaging |
Het |
| Zfp451 |
T |
A |
1: 33,809,988 (GRCm39) |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,818,431 (GRCm39) |
F520S |
probably damaging |
Het |
|
| Other mutations in Sf3b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Sf3b3
|
APN |
8 |
111,540,383 (GRCm39) |
nonsense |
probably null |
|
|
IGL00770:Sf3b3
|
APN |
8 |
111,544,270 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00774:Sf3b3
|
APN |
8 |
111,544,270 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01132:Sf3b3
|
APN |
8 |
111,569,413 (GRCm39) |
missense |
probably benign |
|
|
IGL01487:Sf3b3
|
APN |
8 |
111,544,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02015:Sf3b3
|
APN |
8 |
111,542,922 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02126:Sf3b3
|
APN |
8 |
111,550,075 (GRCm39) |
missense |
probably benign |
|
|
IGL02612:Sf3b3
|
APN |
8 |
111,569,608 (GRCm39) |
missense |
probably benign |
|
|
IGL02833:Sf3b3
|
APN |
8 |
111,538,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03033:Sf3b3
|
APN |
8 |
111,537,596 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03366:Sf3b3
|
APN |
8 |
111,566,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Sf3b3
|
UTSW |
8 |
111,538,768 (GRCm39) |
splice site |
probably benign |
|
|
R0907:Sf3b3
|
UTSW |
8 |
111,538,142 (GRCm39) |
splice site |
probably benign |
|
|
R1344:Sf3b3
|
UTSW |
8 |
111,564,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1468:Sf3b3
|
UTSW |
8 |
111,564,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Sf3b3
|
UTSW |
8 |
111,564,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Sf3b3
|
UTSW |
8 |
111,540,464 (GRCm39) |
missense |
probably benign |
|
|
R1833:Sf3b3
|
UTSW |
8 |
111,544,198 (GRCm39) |
missense |
probably benign |
|
|
R3236:Sf3b3
|
UTSW |
8 |
111,538,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3615:Sf3b3
|
UTSW |
8 |
111,571,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3616:Sf3b3
|
UTSW |
8 |
111,571,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3683:Sf3b3
|
UTSW |
8 |
111,540,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4197:Sf3b3
|
UTSW |
8 |
111,548,197 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4429:Sf3b3
|
UTSW |
8 |
111,552,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4674:Sf3b3
|
UTSW |
8 |
111,571,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4895:Sf3b3
|
UTSW |
8 |
111,542,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4931:Sf3b3
|
UTSW |
8 |
111,542,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4948:Sf3b3
|
UTSW |
8 |
111,540,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4999:Sf3b3
|
UTSW |
8 |
111,567,835 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5150:Sf3b3
|
UTSW |
8 |
111,550,008 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5175:Sf3b3
|
UTSW |
8 |
111,560,467 (GRCm39) |
missense |
probably benign |
|
|
R5559:Sf3b3
|
UTSW |
8 |
111,564,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5866:Sf3b3
|
UTSW |
8 |
111,541,266 (GRCm39) |
missense |
probably benign |
|
|
R5934:Sf3b3
|
UTSW |
8 |
111,550,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6270:Sf3b3
|
UTSW |
8 |
111,568,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Sf3b3
|
UTSW |
8 |
111,552,210 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7078:Sf3b3
|
UTSW |
8 |
111,539,639 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7252:Sf3b3
|
UTSW |
8 |
111,566,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7467:Sf3b3
|
UTSW |
8 |
111,538,088 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7523:Sf3b3
|
UTSW |
8 |
111,540,352 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7544:Sf3b3
|
UTSW |
8 |
111,564,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7638:Sf3b3
|
UTSW |
8 |
111,547,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Sf3b3
|
UTSW |
8 |
111,548,162 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7973:Sf3b3
|
UTSW |
8 |
111,542,922 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8141:Sf3b3
|
UTSW |
8 |
111,547,483 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8745:Sf3b3
|
UTSW |
8 |
111,550,816 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8914:Sf3b3
|
UTSW |
8 |
111,540,439 (GRCm39) |
missense |
probably benign |
|
|
R8948:Sf3b3
|
UTSW |
8 |
111,550,075 (GRCm39) |
missense |
probably benign |
|
|
R9269:Sf3b3
|
UTSW |
8 |
111,538,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9339:Sf3b3
|
UTSW |
8 |
111,542,854 (GRCm39) |
missense |
probably benign |
|
|
R9445:Sf3b3
|
UTSW |
8 |
111,552,774 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
X0024:Sf3b3
|
UTSW |
8 |
111,569,564 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGATAGGAAGCTCTTTTGGAGG -3'
(R):5'- CAAGGCCTTGTCGTAGGGATTC -3'
Sequencing Primer
(F):5'- CTCTTTTGGAGGAGCTAAGAACC -3'
(R):5'- AGTAGACCCAGTGTTGTTTGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation