Incidental Mutation 'IGL03061:Sf3a1'
ID 409446
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) question?
Stock # IGL03061
Quality Score
Status
Chromosome 11
Chromosomal Location 4110354-4132541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4125493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 428 (R428C)
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: R428C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: R428C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132666
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign 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
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 2016-08-02