Incidental Mutation 'IGL01899:Sf3a1'
ID179473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sf3a1
Ensembl Gene ENSMUSG00000002129
Gene Namesplicing factor 3a, subunit 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01899
Quality Score
Status
Chromosome11
Chromosomal Location4160350-4182541 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4171063 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 218 (I218N)
Ref Sequence ENSEMBL: ENSMUSP00000002198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002198]
PDB Structure
Solution structure of Ubiquitin-like domain in SF3a120 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000002198
AA Change: I218N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129
AA Change: I218N

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicral G A 17: 46,824,674 P537S probably benign Het
Cadm1 A G 9: 47,810,091 T260A probably damaging Het
Ddr2 C A 1: 169,984,422 G744C probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Far2 A G 6: 148,146,029 K69E probably benign Het
Fasn G A 11: 120,820,149 probably benign Het
Ficd A G 5: 113,737,097 T76A probably benign Het
Flot1 A T 17: 35,830,681 I327L probably benign Het
Fscn3 A T 6: 28,436,079 E458V probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Lepr A G 4: 101,779,987 E691G possibly damaging Het
Ly9 T A 1: 171,607,247 Q26L probably damaging Het
Olfr484 T C 7: 108,124,841 T141A probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Plxna2 C T 1: 194,751,488 S615L probably damaging Het
Ppfia2 T C 10: 106,915,751 probably null Het
Ppox A G 1: 171,277,082 V470A probably benign Het
Rptor T A 11: 119,857,453 S4T probably benign Het
Stxbp5l T C 16: 37,200,592 S647G probably benign Het
Sytl1 C T 4: 133,258,856 probably null Het
Tbx6 C T 7: 126,784,532 probably benign Het
Thg1l C A 11: 45,954,191 R78L probably damaging Het
Tlr1 T C 5: 64,927,016 K73E probably damaging Het
Trpm1 T A 7: 64,234,994 F808I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Sf3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02883:Sf3a1 APN 11 4179192 missense probably damaging 1.00
IGL03061:Sf3a1 APN 11 4175493 missense probably damaging 1.00
R1469:Sf3a1 UTSW 11 4175380 splice site probably benign
R1561:Sf3a1 UTSW 11 4179217 missense probably benign
R1905:Sf3a1 UTSW 11 4176678 missense probably benign 0.01
R1993:Sf3a1 UTSW 11 4179177 missense possibly damaging 0.51
R2264:Sf3a1 UTSW 11 4177443 missense probably benign 0.28
R3935:Sf3a1 UTSW 11 4180024 splice site probably null
R3936:Sf3a1 UTSW 11 4180024 splice site probably null
R4065:Sf3a1 UTSW 11 4167824 missense probably damaging 1.00
R4067:Sf3a1 UTSW 11 4167824 missense probably damaging 1.00
R4245:Sf3a1 UTSW 11 4167774 missense probably damaging 1.00
R5167:Sf3a1 UTSW 11 4177456 missense possibly damaging 0.71
R5434:Sf3a1 UTSW 11 4174041 missense probably damaging 1.00
R7471:Sf3a1 UTSW 11 4167724 missense possibly damaging 0.94
R7506:Sf3a1 UTSW 11 4177561 missense probably benign 0.02
R8039:Sf3a1 UTSW 11 4167787 missense probably damaging 1.00
R8074:Sf3a1 UTSW 11 4175435 nonsense probably null
Posted On2014-05-07