Incidental Mutation 'R4711:Sf3a3'
| ID |
353259 |
| 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 # |
R4711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124608569-124626253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124621974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 371
(D371E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030734]
|
| AlphaFold |
Q9D554 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030734
AA Change: D371E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: D371E
| 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: ENSMUST00000102316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151049
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,366,288 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,288,910 (GRCm39) |
N358D |
possibly damaging |
Het |
| Col20a1 |
G |
C |
2: 180,634,284 (GRCm39) |
G83A |
probably damaging |
Het |
| Copa |
T |
G |
1: 171,947,555 (GRCm39) |
F1124V |
probably damaging |
Het |
| Cyp2c66 |
G |
A |
19: 39,151,843 (GRCm39) |
R186H |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,358,208 (GRCm39) |
T323M |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,618 (GRCm39) |
I664V |
possibly damaging |
Het |
| Erp29 |
A |
G |
5: 121,583,293 (GRCm39) |
I211T |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,369,232 (GRCm39) |
S128P |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,540,389 (GRCm39) |
N264Y |
probably damaging |
Het |
| Gsdma2 |
T |
A |
11: 98,540,439 (GRCm39) |
S119R |
probably damaging |
Het |
| H2ac1 |
C |
T |
13: 24,118,796 (GRCm39) |
P118S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,691 (GRCm39) |
|
probably null |
Het |
| Ino80c |
T |
C |
18: 24,247,222 (GRCm39) |
N59S |
probably benign |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 103,470,627 (GRCm39) |
V25A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,012,336 (GRCm39) |
T193A |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,399,770 (GRCm39) |
F414L |
unknown |
Het |
| Nat10 |
A |
T |
2: 103,578,612 (GRCm39) |
C197* |
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,420,093 (GRCm39) |
K11E |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,069 (GRCm39) |
M1K |
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,370 (GRCm39) |
I173V |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,929,437 (GRCm39) |
I582T |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,153,976 (GRCm39) |
I232V |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,166,958 (GRCm39) |
T664S |
probably benign |
Het |
| Pdik1l |
G |
C |
4: 134,006,301 (GRCm39) |
R214G |
probably benign |
Het |
| Prss37 |
C |
T |
6: 40,492,381 (GRCm39) |
V157M |
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,667 (GRCm39) |
|
noncoding transcript |
Het |
| Ring1 |
T |
C |
17: 34,241,333 (GRCm39) |
E261G |
possibly damaging |
Het |
| Spag9 |
T |
A |
11: 94,005,177 (GRCm39) |
|
probably null |
Het |
| Spred1 |
T |
A |
2: 117,005,866 (GRCm39) |
S209R |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,853 (GRCm39) |
T40A |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,537 (GRCm39) |
T187A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,191,039 (GRCm39) |
V311I |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,527 (GRCm39) |
V683A |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,167 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,660,404 (GRCm39) |
A7439V |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,626,795 (GRCm39) |
I838T |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,536 (GRCm39) |
T183A |
probably benign |
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 |
|
R2984:Sf3a3
|
UTSW |
4 |
124,612,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Sf3a3
|
UTSW |
4 |
124,618,870 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4366:Sf3a3
|
UTSW |
4 |
124,618,932 (GRCm39) |
missense |
probably benign |
|
|
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'- GTTAGAGGAACTGTCCCTCCATG -3'
(R):5'- GGTAGGTGTAGTTCCCACAGATC -3'
Sequencing Primer
(F):5'- ATGTCCTGTACTGAGTACTCTGAC -3'
(R):5'- GGTGTAGTTCCCACAGATCTCACAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation