Incidental Mutation 'IGL02883:Sf3a1'
ID 362876
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 # IGL02883
Quality Score
Status
Chromosome 11
Chromosomal Location 4110354-4132541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4129192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 718 (W718R)
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: W718R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: W718R

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: 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,766,972 (GRCm39) S186R possibly damaging Het
Acap2 A G 16: 30,915,163 (GRCm39) probably benign Het
Cacna1h G T 17: 25,599,506 (GRCm39) R1726S probably damaging Het
Cdca2 T C 14: 67,944,946 (GRCm39) S133G probably damaging Het
Cep295nl A T 11: 118,224,735 (GRCm39) S36R probably benign Het
Crispld1 A G 1: 17,817,013 (GRCm39) N190S possibly damaging Het
Crtam A G 9: 40,905,797 (GRCm39) V44A probably benign Het
Crtc1 C T 8: 70,858,775 (GRCm39) G112S probably benign Het
Cyp17a1 T C 19: 46,657,790 (GRCm39) N254S probably benign Het
Dmrta1 T C 4: 89,577,011 (GRCm39) S156P probably benign Het
Eno2 A C 6: 124,743,172 (GRCm39) V188G probably damaging Het
Fam20a A T 11: 109,565,953 (GRCm39) I427N probably damaging Het
Fat2 T C 11: 55,147,444 (GRCm39) K3933E probably benign Het
Igkv8-30 T C 6: 70,094,601 (GRCm39) M1V probably null Het
Ist1 G A 8: 110,410,300 (GRCm39) probably benign Het
Kank4 T C 4: 98,661,690 (GRCm39) E765G possibly damaging Het
Kat14 T C 2: 144,235,449 (GRCm39) L92S probably damaging Het
Kcnu1 G A 8: 26,339,855 (GRCm39) V58I probably benign Het
Lrba T A 3: 86,261,513 (GRCm39) V1489E probably damaging Het
Lrba T A 3: 86,352,720 (GRCm39) I1956N probably damaging Het
Mdn1 G A 4: 32,763,199 (GRCm39) V5100I probably benign Het
Mkrn2os C A 6: 115,563,670 (GRCm39) G122* probably null Het
Nme3 T C 17: 25,115,880 (GRCm39) Y78H probably benign Het
Pira13 A G 7: 3,825,179 (GRCm39) S488P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppp2r5c T G 12: 110,488,997 (GRCm39) V56G possibly damaging Het
Pramel16 T C 4: 143,676,418 (GRCm39) T229A possibly damaging Het
Prdm10 G A 9: 31,238,644 (GRCm39) V179M probably damaging Het
Rab11fip2 A G 19: 59,895,430 (GRCm39) V344A probably damaging Het
Selp G A 1: 163,957,671 (GRCm39) A267T probably benign Het
Taar9 T C 10: 23,985,378 (GRCm39) N19D probably benign Het
Tas2r113 T G 6: 132,870,382 (GRCm39) S137A probably damaging Het
Traf4 A T 11: 78,052,447 (GRCm39) I66N possibly damaging Het
Ucp3 A T 7: 100,129,849 (GRCm39) T164S probably benign Het
Uggt1 A T 1: 36,216,696 (GRCm39) N96K probably benign Het
Uqcc1 T A 2: 155,753,749 (GRCm39) Q42L possibly damaging Het
Vmn1r128 A G 7: 21,083,440 (GRCm39) K48R probably benign Het
Other mutations in Sf3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01899:Sf3a1 APN 11 4,121,063 (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
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 2015-12-18