Incidental Mutation 'R1441:Sf3a3'
ID 160996
Institutional Source Beutler Lab
Gene Symbol Sf3a3
Ensembl Gene ENSMUSG00000028902
Gene Name splicing factor 3a, subunit 3
Synonyms 4930512K19Rik, 60kDa
MMRRC Submission 039496-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R1441 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 124608569-124626253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124618935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 299 (S299P)
Ref Sequence ENSEMBL: ENSMUSP00000030734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030734]
AlphaFold Q9D554
Predicted Effect probably damaging
Transcript: ENSMUST00000030734
AA Change: S299P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030734
Gene: ENSMUSG00000028902
AA Change: S299P

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: ENSMUST00000151049
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,481,194 (GRCm39) probably null Het
Ankrd16 T C 2: 11,783,557 (GRCm39) L53P probably damaging Het
Arsk A T 13: 76,223,083 (GRCm39) N171K probably benign Het
Brwd1 A C 16: 95,867,351 (GRCm39) C161W probably damaging Het
Card9 T C 2: 26,249,402 (GRCm39) N53S probably benign Het
Ccdc13 A T 9: 121,642,515 (GRCm39) V403E probably benign Het
Ccdc83 T A 7: 89,893,351 (GRCm39) E135D probably damaging Het
Ccser1 C T 6: 62,357,016 (GRCm39) T818I probably benign Het
Cd44 T A 2: 102,676,763 (GRCm39) T301S probably damaging Het
Eepd1 G A 9: 25,394,499 (GRCm39) M254I probably benign Het
Ephb4 C T 5: 137,359,509 (GRCm39) R360C probably damaging Het
Fam149a G T 8: 45,808,684 (GRCm39) Q150K probably damaging Het
G6pc2 G A 2: 69,051,198 (GRCm39) C97Y probably damaging Het
Gcsam T A 16: 45,433,401 (GRCm39) M15K probably benign Het
Impdh2 C A 9: 108,441,975 (GRCm39) T201K probably benign Het
Kdm2b C T 5: 123,070,943 (GRCm39) E379K probably benign Het
Mcm3ap T C 10: 76,307,000 (GRCm39) V371A probably benign Het
Mink1 T A 11: 70,497,940 (GRCm39) N514K possibly damaging Het
Mmp12 C T 9: 7,354,787 (GRCm39) P330L probably damaging Het
Mroh2a A G 1: 88,169,353 (GRCm39) D676G possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Naip5 T C 13: 100,356,225 (GRCm39) H1130R possibly damaging Het
Ninl C A 2: 150,813,044 (GRCm39) G204V probably benign Het
Or12k5 C A 2: 36,895,131 (GRCm39) R165L possibly damaging Het
Or2a54 T C 6: 43,092,880 (GRCm39) V68A probably benign Het
Or4k51 T C 2: 111,585,347 (GRCm39) F251S probably damaging Het
Or5ac20 G A 16: 59,104,228 (GRCm39) L211F probably benign Het
Or5an11 T A 19: 12,245,750 (GRCm39) L52* probably null Het
Or8c15 T C 9: 38,120,777 (GRCm39) C141R probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pip4p2 A T 4: 14,892,477 (GRCm39) I114L possibly damaging Het
Ptpn22 G T 3: 103,781,563 (GRCm39) W114L probably damaging Het
Rasa1 C T 13: 85,400,540 (GRCm39) probably null Het
Rbks C T 5: 31,817,341 (GRCm39) V143I probably benign Het
Rbm19 T C 5: 120,269,241 (GRCm39) F515L probably damaging Het
Ror1 A G 4: 100,298,180 (GRCm39) T518A probably benign Het
Rpusd4 C A 9: 35,184,065 (GRCm39) A240E probably damaging Het
Rufy3 T C 5: 88,780,374 (GRCm39) L374P probably damaging Het
Slc7a12 T G 3: 14,562,414 (GRCm39) S264A possibly damaging Het
Tasor T A 14: 27,186,217 (GRCm39) C805* probably null Het
Tm9sf1 T C 14: 55,873,782 (GRCm39) Y572C probably damaging Het
Tpcn2 G A 7: 144,813,871 (GRCm39) S475L probably benign Het
Trim17 A G 11: 58,856,018 (GRCm39) D25G probably damaging Het
Ttn T A 2: 76,572,121 (GRCm39) K26257N probably damaging Het
Txndc11 C A 16: 10,952,414 (GRCm39) probably benign Het
Utrn A G 10: 12,559,039 (GRCm39) S1405P probably damaging Het
Vmn2r58 G A 7: 41,486,864 (GRCm39) T677I probably damaging Het
Other mutations in Sf3a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Sf3a3 APN 4 124,612,136 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- GAGAGCCACTAAACACTGCCTTCC -3'
(R):5'- acaacaaaaTGCAAGACAAAACAAAACAAGAC -3'

Sequencing Primer
(F):5'- tgcctttaaccccagcac -3'
(R):5'- ttggagatggaggtaaaaggg -3'
Posted On 2014-03-14