Incidental Mutation 'IGL01899:Sf3a1'
| ID |
179473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4110354-4132541 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4121063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 218
(I218N)
|
| 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 damaging
Transcript: ENSMUST00000002198
AA Change: I218N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: I218N
| 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: ENSMUST00000129583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132666
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicral |
G |
A |
17: 47,135,600 (GRCm39) |
P537S |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,721,389 (GRCm39) |
T260A |
probably damaging |
Het |
| Ddr2 |
C |
A |
1: 169,811,991 (GRCm39) |
G744C |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Far2 |
A |
G |
6: 148,047,527 (GRCm39) |
K69E |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,710,975 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,875,158 (GRCm39) |
T76A |
probably benign |
Het |
| Flot1 |
A |
T |
17: 36,141,573 (GRCm39) |
I327L |
probably benign |
Het |
| Fscn3 |
A |
T |
6: 28,436,078 (GRCm39) |
E458V |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,637,184 (GRCm39) |
E691G |
possibly damaging |
Het |
| Ly9 |
T |
A |
1: 171,434,815 (GRCm39) |
Q26L |
probably damaging |
Het |
| Or5p60 |
T |
C |
7: 107,724,048 (GRCm39) |
T141A |
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,433,796 (GRCm39) |
S615L |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,751,612 (GRCm39) |
|
probably null |
Het |
| Ppox |
A |
G |
1: 171,104,655 (GRCm39) |
V470A |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,748,279 (GRCm39) |
S4T |
probably benign |
Het |
| Stxbp5l |
T |
C |
16: 37,020,954 (GRCm39) |
S647G |
probably benign |
Het |
| Sytl1 |
C |
T |
4: 132,986,167 (GRCm39) |
|
probably null |
Het |
| Tbx6 |
C |
T |
7: 126,383,704 (GRCm39) |
|
probably benign |
Het |
| Thg1l |
C |
A |
11: 45,845,018 (GRCm39) |
R78L |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,359 (GRCm39) |
K73E |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,884,742 (GRCm39) |
F808I |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Sf3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R3936: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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation