Incidental Mutation 'IGL01622:Sf3a3'
ID 278608
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01622
Quality Score
Status
Chromosome 4
Chromosomal Location 124608569-124626253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124612136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 131 (T131I)
Ref Sequence ENSEMBL: ENSMUSP00000030734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030734]
AlphaFold Q9D554
Predicted Effect possibly damaging
Transcript: ENSMUST00000030734
AA Change: T131I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: T131I

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1358 question?
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Sf3a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16