Incidental Mutation 'R5997:Sf3a3'
ID 480605
Institutional Source Beutler Lab
Gene Symbol Sf3a3
Ensembl Gene ENSMUSG00000028902
Gene Name splicing factor 3a, subunit 3
Synonyms 4930512K19Rik, 60kDa
MMRRC Submission 044176-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5997 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 124714776-124732460 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124722058 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 168 (D168G)
Ref Sequence ENSEMBL: ENSMUSP00000030734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030734]
AlphaFold Q9D554
Predicted Effect probably damaging
Transcript: ENSMUST00000030734
AA Change: D168G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: D168G

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.5%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 A T 5: 124,089,815 (GRCm38) V121E possibly damaging Het
Acsbg3 A T 17: 56,876,373 (GRCm38) D38V probably benign Het
Adamts20 T A 15: 94,379,747 (GRCm38) Y278F probably damaging Het
Adcy7 A T 8: 88,326,392 (GRCm38) D972V probably benign Het
Adgrf3 C A 5: 30,198,362 (GRCm38) probably null Het
Ahdc1 G T 4: 133,063,895 (GRCm38) G816C probably benign Het
Aifm3 A G 16: 17,502,130 (GRCm38) K283E probably benign Het
Akap6 T C 12: 52,937,233 (GRCm38) probably null Het
Ank1 T C 8: 23,099,662 (GRCm38) L593P probably damaging Het
Apol11b T A 15: 77,635,497 (GRCm38) T128S probably benign Het
C1qtnf7 C A 5: 43,616,085 (GRCm38) T235K probably damaging Het
Camk2a A T 18: 60,977,957 (GRCm38) I73F probably damaging Het
Ccdc121rt3 C T 5: 112,355,008 (GRCm38) V277M possibly damaging Het
Cd109 G T 9: 78,705,062 (GRCm38) V1244F possibly damaging Het
Cep164 A G 9: 45,769,463 (GRCm38) L1240S possibly damaging Het
Cnga1 T A 5: 72,604,575 (GRCm38) D532V probably damaging Het
Cyp4a14 A T 4: 115,496,100 (GRCm38) L5* probably null Het
Cyp4a30b A T 4: 115,459,391 (GRCm38) K405* probably null Het
Dchs1 T C 7: 105,754,095 (GRCm38) D3080G probably benign Het
Ddx1 T C 12: 13,237,799 (GRCm38) D168G probably damaging Het
Dhx57 T G 17: 80,245,806 (GRCm38) K1231Q probably damaging Het
Dnah14 A G 1: 181,770,105 (GRCm38) N3640D probably benign Het
Dock4 T A 12: 40,755,834 (GRCm38) L935Q probably damaging Het
Dus2 A T 8: 106,046,066 (GRCm38) R269S probably benign Het
E230025N22Rik G A 18: 36,689,108 (GRCm38) R201C possibly damaging Het
Erbb3 G A 10: 128,583,185 (GRCm38) T269M probably damaging Het
Fbxo43 T C 15: 36,162,093 (GRCm38) R323G probably damaging Het
Fktn A G 4: 53,735,061 (GRCm38) H233R probably benign Het
Ftsj3 A T 11: 106,252,251 (GRCm38) D412E probably damaging Het
Fzd7 A T 1: 59,484,544 (GRCm38) M529L probably benign Het
Fzr1 T A 10: 81,370,826 (GRCm38) probably null Het
Ganc T G 2: 120,430,605 (GRCm38) V257G possibly damaging Het
Garin1a T A 6: 29,290,424 (GRCm38) L267* probably null Het
Gm4131 T C 14: 62,464,758 (GRCm38) K254E probably damaging Het
Gm7347 G T 5: 26,057,249 (GRCm38) Y91* probably null Het
Gm9857 G A 3: 108,940,165 (GRCm38) probably benign Het
Grpel1 T C 5: 36,465,248 (GRCm38) S19P probably benign Het
Gtf3c4 T C 2: 28,833,711 (GRCm38) K670E possibly damaging Het
H2bc7 G A 13: 23,574,103 (GRCm38) probably benign Het
Hmcn1 G T 1: 150,704,173 (GRCm38) Q1938K possibly damaging Het
Hnrnpk T C 13: 58,399,157 (GRCm38) D71G probably damaging Het
Hspa4l G A 3: 40,767,979 (GRCm38) R311H probably damaging Het
Igkv3-5 T A 6: 70,663,704 (GRCm38) F56L probably benign Het
Igkv6-20 T A 6: 70,335,914 (GRCm38) T92S possibly damaging Het
Krt8 C T 15: 102,000,594 (GRCm38) V200I possibly damaging Het
Lamb2 A T 9: 108,480,388 (GRCm38) T66S possibly damaging Het
Lamp3 A G 16: 19,701,028 (GRCm38) L135S probably benign Het
Lrguk A G 6: 34,129,143 (GRCm38) Y701C probably damaging Het
Mcc G T 18: 44,449,321 (GRCm38) L588M probably damaging Het
Mcidas T A 13: 112,998,586 (GRCm38) L234Q probably damaging Het
Mtmr14 T A 6: 113,280,614 (GRCm38) L208Q probably damaging Het
Myof A G 19: 37,905,299 (GRCm38) F1139L possibly damaging Het
Nlrp14 C A 7: 107,182,496 (GRCm38) T300K probably benign Het
Or2d36 A T 7: 107,147,328 (GRCm38) E4V possibly damaging Het
Or2m13 T A 16: 19,407,944 (GRCm38) H24L probably benign Het
Or5b118 A G 19: 13,471,506 (GRCm38) I179V probably benign Het
Or8b41 A T 9: 38,143,801 (GRCm38) Y217F probably damaging Het
Orc2 A G 1: 58,472,388 (GRCm38) I354T probably damaging Het
Pard3b G T 1: 62,076,409 (GRCm38) S140I probably damaging Het
Pcgf5 A G 19: 36,434,603 (GRCm38) D49G probably benign Het
Pcsk6 T C 7: 65,959,293 (GRCm38) F388S probably damaging Het
Prokr2 A C 2: 132,381,442 (GRCm38) I60S probably damaging Het
Rab33b A G 3: 51,484,479 (GRCm38) T50A possibly damaging Het
Rbms3 T C 9: 116,719,389 (GRCm38) D61G probably damaging Het
Rhcg T A 7: 79,600,514 (GRCm38) K274* probably null Het
Rnf112 C T 11: 61,451,022 (GRCm38) V319M possibly damaging Het
Rnf44 A T 13: 54,682,800 (GRCm38) S265T possibly damaging Het
Sik2 A G 9: 50,895,342 (GRCm38) probably null Het
Slco1a5 T A 6: 142,253,113 (GRCm38) L275F probably benign Het
Smtnl1 T C 2: 84,815,378 (GRCm38) H383R probably damaging Het
Spns3 T G 11: 72,539,078 (GRCm38) T175P probably damaging Het
Togaram1 A G 12: 64,995,538 (GRCm38) T1174A probably benign Het
Tradd C T 8: 105,260,645 (GRCm38) E10K possibly damaging Het
Ttc7b A T 12: 100,373,560 (GRCm38) Y579N probably damaging Het
Uncx G A 5: 139,547,589 (GRCm38) G470R probably damaging Het
Vav3 T A 3: 109,501,461 (GRCm38) M177K probably damaging Het
Wfs1 A T 5: 36,967,750 (GRCm38) I599N probably damaging Het
Zfp454 G A 11: 50,873,622 (GRCm38) H217Y probably damaging Het
Other mutations in Sf3a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Sf3a3 APN 4 124,718,343 (GRCm38) missense possibly damaging 0.93
IGL01623:Sf3a3 APN 4 124,718,343 (GRCm38) missense possibly damaging 0.93
PIT4495001:Sf3a3 UTSW 4 124,728,320 (GRCm38) missense probably damaging 1.00
R0070:Sf3a3 UTSW 4 124,714,955 (GRCm38) missense probably benign 0.04
R1441:Sf3a3 UTSW 4 124,725,142 (GRCm38) missense probably damaging 0.99
R1858:Sf3a3 UTSW 4 124,729,495 (GRCm38) missense probably damaging 1.00
R1928:Sf3a3 UTSW 4 124,722,093 (GRCm38) missense possibly damaging 0.56
R1943:Sf3a3 UTSW 4 124,715,901 (GRCm38) missense possibly damaging 0.95
R2101:Sf3a3 UTSW 4 124,718,343 (GRCm38) missense possibly damaging 0.93
R2984:Sf3a3 UTSW 4 124,718,409 (GRCm38) missense probably damaging 1.00
R3434:Sf3a3 UTSW 4 124,725,077 (GRCm38) missense possibly damaging 0.95
R4366:Sf3a3 UTSW 4 124,725,139 (GRCm38) missense probably benign
R4711:Sf3a3 UTSW 4 124,728,181 (GRCm38) missense probably benign 0.01
R5032:Sf3a3 UTSW 4 124,725,166 (GRCm38) missense probably benign 0.17
R5464:Sf3a3 UTSW 4 124,728,240 (GRCm38) critical splice donor site probably null
R5607:Sf3a3 UTSW 4 124,714,953 (GRCm38) missense probably damaging 1.00
R6166:Sf3a3 UTSW 4 124,723,384 (GRCm38) intron probably benign
R7030:Sf3a3 UTSW 4 124,722,880 (GRCm38) missense probably damaging 1.00
R7038:Sf3a3 UTSW 4 124,728,426 (GRCm38) missense probably benign 0.16
R7157:Sf3a3 UTSW 4 124,722,900 (GRCm38) missense probably damaging 0.98
R7184:Sf3a3 UTSW 4 124,714,979 (GRCm38) missense probably benign 0.10
R7250:Sf3a3 UTSW 4 124,722,915 (GRCm38) missense probably benign 0.03
R9212:Sf3a3 UTSW 4 124,728,128 (GRCm38) missense possibly damaging 0.67
Z1176:Sf3a3 UTSW 4 124,714,901 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AACGCTCGATTTGGACCTTG -3'
(R):5'- AGTATCCTTACCTTCTGATAAACCC -3'

Sequencing Primer
(F):5'- GCCTTCAAATATGGGGGTCAC -3'
(R):5'- CCAAAAGTCATTCATGTCCAGTATTC -3'
Posted On 2017-06-26