Incidental Mutation 'R3936:Sf3a1'
| ID |
307178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf3a1
|
| Ensembl Gene |
ENSMUSG00000002129 |
| Gene Name |
splicing factor 3a, subunit 1 |
| Synonyms |
1200014H24Rik, 5930416L09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4110354-4132541 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 4130024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002198]
|
| AlphaFold |
Q8K4Z5 |
| PDB Structure |
Solution structure of Ubiquitin-like domain in SF3a120 [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000002198
|
| SMART Domains |
Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
SWAP
|
50 |
103 |
4.99e-30 |
SMART |
|
low complexity region
|
118 |
138 |
N/A |
INTRINSIC |
|
SWAP
|
164 |
217 |
3.22e-24 |
SMART |
|
Pfam:PRP21_like_P
|
227 |
469 |
7e-81 |
PFAM |
|
low complexity region
|
552 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
673 |
N/A |
INTRINSIC |
|
UBQ
|
713 |
784 |
6.52e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133095
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
probably benign |
Het |
|
| Other mutations in Sf3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01899:Sf3a1
|
APN |
11 |
4,121,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02883:Sf3a1
|
APN |
11 |
4,129,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Sf3a1
|
APN |
11 |
4,125,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Sf3a1
|
UTSW |
11 |
4,125,380 (GRCm39) |
splice site |
probably benign |
|
|
R1561:Sf3a1
|
UTSW |
11 |
4,129,217 (GRCm39) |
missense |
probably benign |
|
|
R1905:Sf3a1
|
UTSW |
11 |
4,126,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1993:Sf3a1
|
UTSW |
11 |
4,129,177 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2264:Sf3a1
|
UTSW |
11 |
4,127,443 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3935:Sf3a1
|
UTSW |
11 |
4,130,024 (GRCm39) |
splice site |
probably null |
|
|
R4065:Sf3a1
|
UTSW |
11 |
4,117,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4067:Sf3a1
|
UTSW |
11 |
4,117,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4245:Sf3a1
|
UTSW |
11 |
4,117,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5167:Sf3a1
|
UTSW |
11 |
4,127,456 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5434:Sf3a1
|
UTSW |
11 |
4,124,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Sf3a1
|
UTSW |
11 |
4,117,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7506:Sf3a1
|
UTSW |
11 |
4,127,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7943:Sf3a1
|
UTSW |
11 |
4,116,537 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8039:Sf3a1
|
UTSW |
11 |
4,117,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Sf3a1
|
UTSW |
11 |
4,125,435 (GRCm39) |
nonsense |
probably null |
|
|
R8299:Sf3a1
|
UTSW |
11 |
4,129,420 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8500:Sf3a1
|
UTSW |
11 |
4,125,039 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9169:Sf3a1
|
UTSW |
11 |
4,116,681 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9352:Sf3a1
|
UTSW |
11 |
4,110,494 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGTCAGCTGTGCCTTTTAG -3'
(R):5'- CTGGAATTGGTGGTGCAAAG -3'
Sequencing Primer
(F):5'- TGGCTAATGTTTGGGAAGTTGAAAAC -3'
(R):5'- GAGGTACAATGGCAAGGTTTCAATTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation