Incidental Mutation 'IGL02883:Sf3a1'
ID |
362876 |
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 # |
IGL02883
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
4110354-4132541 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4129192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 718
(W718R)
|
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: W718R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000002198 Gene: ENSMUSG00000002129 AA Change: W718R
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
C |
A |
19: 3,766,972 (GRCm39) |
S186R |
possibly damaging |
Het |
Acap2 |
A |
G |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
Cacna1h |
G |
T |
17: 25,599,506 (GRCm39) |
R1726S |
probably damaging |
Het |
Cdca2 |
T |
C |
14: 67,944,946 (GRCm39) |
S133G |
probably damaging |
Het |
Cep295nl |
A |
T |
11: 118,224,735 (GRCm39) |
S36R |
probably benign |
Het |
Crispld1 |
A |
G |
1: 17,817,013 (GRCm39) |
N190S |
possibly damaging |
Het |
Crtam |
A |
G |
9: 40,905,797 (GRCm39) |
V44A |
probably benign |
Het |
Crtc1 |
C |
T |
8: 70,858,775 (GRCm39) |
G112S |
probably benign |
Het |
Cyp17a1 |
T |
C |
19: 46,657,790 (GRCm39) |
N254S |
probably benign |
Het |
Dmrta1 |
T |
C |
4: 89,577,011 (GRCm39) |
S156P |
probably benign |
Het |
Eno2 |
A |
C |
6: 124,743,172 (GRCm39) |
V188G |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,565,953 (GRCm39) |
I427N |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,147,444 (GRCm39) |
K3933E |
probably benign |
Het |
Igkv8-30 |
T |
C |
6: 70,094,601 (GRCm39) |
M1V |
probably null |
Het |
Ist1 |
G |
A |
8: 110,410,300 (GRCm39) |
|
probably benign |
Het |
Kank4 |
T |
C |
4: 98,661,690 (GRCm39) |
E765G |
possibly damaging |
Het |
Kat14 |
T |
C |
2: 144,235,449 (GRCm39) |
L92S |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,339,855 (GRCm39) |
V58I |
probably benign |
Het |
Lrba |
T |
A |
3: 86,261,513 (GRCm39) |
V1489E |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,352,720 (GRCm39) |
I1956N |
probably damaging |
Het |
Mdn1 |
G |
A |
4: 32,763,199 (GRCm39) |
V5100I |
probably benign |
Het |
Mkrn2os |
C |
A |
6: 115,563,670 (GRCm39) |
G122* |
probably null |
Het |
Nme3 |
T |
C |
17: 25,115,880 (GRCm39) |
Y78H |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,179 (GRCm39) |
S488P |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Ppp2r5c |
T |
G |
12: 110,488,997 (GRCm39) |
V56G |
possibly damaging |
Het |
Pramel16 |
T |
C |
4: 143,676,418 (GRCm39) |
T229A |
possibly damaging |
Het |
Prdm10 |
G |
A |
9: 31,238,644 (GRCm39) |
V179M |
probably damaging |
Het |
Rab11fip2 |
A |
G |
19: 59,895,430 (GRCm39) |
V344A |
probably damaging |
Het |
Selp |
G |
A |
1: 163,957,671 (GRCm39) |
A267T |
probably benign |
Het |
Taar9 |
T |
C |
10: 23,985,378 (GRCm39) |
N19D |
probably benign |
Het |
Tas2r113 |
T |
G |
6: 132,870,382 (GRCm39) |
S137A |
probably damaging |
Het |
Traf4 |
A |
T |
11: 78,052,447 (GRCm39) |
I66N |
possibly damaging |
Het |
Ucp3 |
A |
T |
7: 100,129,849 (GRCm39) |
T164S |
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,216,696 (GRCm39) |
N96K |
probably benign |
Het |
Uqcc1 |
T |
A |
2: 155,753,749 (GRCm39) |
Q42L |
possibly damaging |
Het |
Vmn1r128 |
A |
G |
7: 21,083,440 (GRCm39) |
K48R |
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 |
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 |
2015-12-18 |