Incidental Mutation 'R2984:Sf3a3'
| ID |
257764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf3a3
|
| Ensembl Gene |
ENSMUSG00000028902 |
| Gene Name |
splicing factor 3a, subunit 3 |
| Synonyms |
4930512K19Rik, 60kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R2984 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124608569-124626253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124612202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 153
(K153M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030734]
|
| AlphaFold |
Q9D554 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030734
AA Change: K153M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: K153M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SF3a60_bindingd
|
74 |
100 |
3e-19 |
PFAM |
|
Pfam:SF3A3
|
129 |
207 |
7.9e-27 |
PFAM |
|
Pfam:Telomere_Sde2_2
|
244 |
303 |
3.1e-31 |
PFAM |
|
low complexity region
|
354 |
377 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
406 |
431 |
9.3e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154712
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
A |
G |
4: 56,744,531 (GRCm39) |
I353V |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Csmd1 |
C |
A |
8: 16,003,782 (GRCm39) |
G2591C |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,846,083 (GRCm39) |
C122* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,256,158 (GRCm39) |
|
probably null |
Het |
| Ncf4 |
A |
G |
15: 78,146,520 (GRCm39) |
K317E |
probably benign |
Het |
| Or4d2 |
C |
T |
11: 87,784,572 (GRCm39) |
M59I |
possibly damaging |
Het |
| Pafah2 |
A |
G |
4: 134,139,182 (GRCm39) |
E196G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,293,185 (GRCm39) |
N2812D |
possibly damaging |
Het |
| Tex2 |
C |
A |
11: 106,437,489 (GRCm39) |
|
probably null |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
|
| Other mutations in Sf3a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Sf3a3
|
APN |
4 |
124,612,136 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01623:Sf3a3
|
APN |
4 |
124,612,136 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4495001:Sf3a3
|
UTSW |
4 |
124,622,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Sf3a3
|
UTSW |
4 |
124,608,748 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1441:Sf3a3
|
UTSW |
4 |
124,618,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1858:Sf3a3
|
UTSW |
4 |
124,623,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Sf3a3
|
UTSW |
4 |
124,615,886 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1943:Sf3a3
|
UTSW |
4 |
124,609,694 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2101:Sf3a3
|
UTSW |
4 |
124,612,136 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3434:Sf3a3
|
UTSW |
4 |
124,618,870 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4366:Sf3a3
|
UTSW |
4 |
124,618,932 (GRCm39) |
missense |
probably benign |
|
|
R4711:Sf3a3
|
UTSW |
4 |
124,621,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5032:Sf3a3
|
UTSW |
4 |
124,618,959 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5464:Sf3a3
|
UTSW |
4 |
124,622,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5607:Sf3a3
|
UTSW |
4 |
124,608,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Sf3a3
|
UTSW |
4 |
124,615,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6166:Sf3a3
|
UTSW |
4 |
124,617,177 (GRCm39) |
intron |
probably benign |
|
|
R7030:Sf3a3
|
UTSW |
4 |
124,616,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Sf3a3
|
UTSW |
4 |
124,622,219 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7157:Sf3a3
|
UTSW |
4 |
124,616,693 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7184:Sf3a3
|
UTSW |
4 |
124,608,772 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7250:Sf3a3
|
UTSW |
4 |
124,616,708 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9212:Sf3a3
|
UTSW |
4 |
124,621,921 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1176:Sf3a3
|
UTSW |
4 |
124,608,694 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTCATTTGATGAGAGCAGAG -3'
(R):5'- TGAGCCATCTTACTAGCCCC -3'
Sequencing Primer
(F):5'- CATTAAGTGACGGGCTACCTCGTAG -3'
(R):5'- CCGACCCTGACTTTCTTTATAAATAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation