Incidental Mutation 'R8500:Sf3a1'
ID 658480
Institutional Source Beutler Lab
Gene Symbol Sf3a1
Ensembl Gene ENSMUSG00000002129
Gene Name splicing factor 3a, subunit 1
Synonyms 1200014H24Rik, 5930416L09Rik
MMRRC Submission 067942-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8500 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 4110354-4132541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4125039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 357 (S357T)
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 benign
Transcript: ENSMUST00000002198
AA Change: S357T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: S357T

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,871,836 (GRCm39) S56N probably benign Het
Atg16l2 T G 7: 100,939,473 (GRCm39) D542A probably damaging Het
Blm A G 7: 80,105,032 (GRCm39) L1412P probably damaging Het
Cdc37 T C 9: 21,052,097 (GRCm39) D314G probably damaging Het
Cela1 T A 15: 100,573,213 (GRCm39) M39L probably benign Het
Col12a1 T A 9: 79,517,133 (GRCm39) D2849V probably damaging Het
Fam53c A G 18: 34,901,854 (GRCm39) E257G probably damaging Het
Fmo9 A T 1: 166,502,039 (GRCm39) N144K probably damaging Het
Gabrd T A 4: 155,470,148 (GRCm39) M354L probably benign Het
Gm5773 A T 3: 93,680,835 (GRCm39) D169V probably benign Het
Gria2 A T 3: 80,599,774 (GRCm39) F703L probably damaging Het
Grm3 A T 5: 9,561,726 (GRCm39) I708N probably benign Het
Hlcs G A 16: 94,063,617 (GRCm39) P481L possibly damaging Het
Ifi206 T C 1: 173,314,311 (GRCm39) Y43C Het
Igf2r A G 17: 12,928,328 (GRCm39) L1005P probably damaging Het
Ighv2-6-8 T C 12: 113,759,834 (GRCm39) N92D possibly damaging Het
Invs A G 4: 48,422,109 (GRCm39) K914E probably damaging Het
Iqsec3 T C 6: 121,389,813 (GRCm39) probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lipo5 C T 19: 33,441,849 (GRCm39) probably null Het
Llgl1 T C 11: 60,595,809 (GRCm39) probably null Het
Lonrf1 T C 8: 36,698,292 (GRCm39) E402G probably benign Het
Lrp1b T A 2: 41,396,791 (GRCm39) Y311F probably benign Het
Lrrc8a T A 2: 30,146,208 (GRCm39) W341R possibly damaging Het
Lrriq1 A G 10: 102,882,016 (GRCm39) I117T Het
Mmp9 T C 2: 164,795,486 (GRCm39) V668A possibly damaging Het
Naip5 A C 13: 100,359,220 (GRCm39) M672R probably damaging Het
Ncam1 A T 9: 49,431,445 (GRCm39) L664Q probably damaging Het
Nol4l T C 2: 153,278,266 (GRCm39) D234G probably damaging Het
Or5t16 T C 2: 86,818,822 (GRCm39) K233E probably damaging Het
Oscp1 T A 4: 125,971,203 (GRCm39) H170Q possibly damaging Het
Pard3 T A 8: 128,186,784 (GRCm39) M1021K probably damaging Het
Pkd1l2 T A 8: 117,774,302 (GRCm39) probably null Het
Plcxd2 T C 16: 45,800,949 (GRCm39) K92E probably damaging Het
Ptpdc1 A T 13: 48,739,759 (GRCm39) C557* probably null Het
Robo2 G A 16: 73,745,228 (GRCm39) T849I probably damaging Het
Rp1 A T 1: 4,416,813 (GRCm39) I1433N possibly damaging Het
Scarb1 A G 5: 125,371,227 (GRCm39) S282P probably damaging Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Sh3glb2 A T 2: 30,249,216 (GRCm39) M1K probably null Het
Slc1a3 T C 15: 8,671,853 (GRCm39) T368A probably damaging Het
Slc66a1 A G 4: 139,027,440 (GRCm39) probably benign Het
Taf11 A T 17: 28,121,594 (GRCm39) I138N probably damaging Het
Tnfaip8l1 C T 17: 56,478,749 (GRCm39) A13V probably damaging Het
Trav6-2 T G 14: 52,905,092 (GRCm39) F38V probably benign Het
Vmn2r73 A G 7: 85,519,638 (GRCm39) V440A probably benign Het
Zfp292 A G 4: 34,826,691 (GRCm39) probably null Het
Zfp429 A T 13: 67,538,828 (GRCm39) C205* probably null Het
Zfp735 C G 11: 73,601,811 (GRCm39) L252V possibly damaging Het
Zfyve26 A T 12: 79,334,454 (GRCm39) L188Q probably damaging Het
Other mutations in Sf3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01899:Sf3a1 APN 11 4,121,063 (GRCm39) missense probably damaging 1.00
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
R9169:Sf3a1 UTSW 11 4,116,681 (GRCm39) missense probably benign 0.28
R9352:Sf3a1 UTSW 11 4,110,494 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGTGAGGAAGCAGCTTGGC -3'
(R):5'- CCATGAGGCCTGTAACATACG -3'

Sequencing Primer
(F):5'- GGACTAAGGCTCCTTGC -3'
(R):5'- TGTAACATACGGGCCACCTC -3'
Posted On 2021-01-18