Incidental Mutation 'R8705:Sf3b5'
ID 669241
Institutional Source Beutler Lab
Gene Symbol Sf3b5
Ensembl Gene ENSMUSG00000078348
Gene Name splicing factor 3b, subunit 5
Synonyms Sf3b10, 10kDa, 1110005L13Rik
MMRRC Submission 068559-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R8705 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 12884194-12884927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 12884554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 63 (R63L)
Ref Sequence ENSEMBL: ENSMUSP00000100771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105139]
AlphaFold Q923D4
Predicted Effect probably damaging
Transcript: ENSMUST00000105139
AA Change: R63L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100771
Gene: ENSMUSG00000078348
AA Change: R63L

DomainStartEndE-ValueType
Pfam:SF3b10 3 80 3.5e-43 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 G T 13: 4,484,447 (GRCm39) G20W probably damaging Het
Ces1c A G 8: 93,857,518 (GRCm39) L21P probably benign Het
Col11a2 G T 17: 34,268,769 (GRCm39) G394V unknown Het
Cyp2c70 A G 19: 40,168,948 (GRCm39) V113A probably benign Het
Foxp1 C G 6: 98,993,507 (GRCm39) Q132H unknown Het
Fras1 A T 5: 96,839,260 (GRCm39) D1593V probably benign Het
Frzb G A 2: 80,277,241 (GRCm39) probably benign Het
Gas6 T C 8: 13,525,156 (GRCm39) D276G probably damaging Het
Gdf7 C T 12: 8,348,167 (GRCm39) E377K probably damaging Het
Ggnbp2 A G 11: 84,753,132 (GRCm39) F36L possibly damaging Het
Gm40460 A T 7: 141,794,734 (GRCm39) C28S unknown Het
Hnrnpd A G 5: 100,111,588 (GRCm39) probably benign Het
Hsd17b11 G A 5: 104,140,703 (GRCm39) L265F probably benign Het
Hyal6 G A 6: 24,734,673 (GRCm39) R202H probably benign Het
Igkv5-43 A G 6: 69,800,592 (GRCm39) S32P probably benign Het
Kank1 A G 19: 25,388,907 (GRCm39) Y860C probably damaging Het
Krt79 G A 15: 101,846,441 (GRCm39) T169M probably damaging Het
Lama5 C T 2: 179,820,354 (GRCm39) C3296Y probably damaging Het
Ly75 A T 2: 60,148,729 (GRCm39) I1200K probably damaging Het
Myo1b A T 1: 51,902,495 (GRCm39) Y78* probably null Het
Napb A G 2: 148,542,396 (GRCm39) V188A probably benign Het
Neb T C 2: 52,148,795 (GRCm39) Y2584C probably damaging Het
Or52e8 T C 7: 104,624,446 (GRCm39) I253V possibly damaging Het
P4htm G A 9: 108,457,240 (GRCm39) A381V probably damaging Het
Pcdha8 T A 18: 37,126,906 (GRCm39) F463I probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phip T C 9: 82,775,612 (GRCm39) T1030A probably damaging Het
Phrf1 T A 7: 140,838,651 (GRCm39) F615L unknown Het
Prrc2a A G 17: 35,372,542 (GRCm39) S1700P possibly damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Sh3rf1 T C 8: 61,802,591 (GRCm39) L308P probably damaging Het
Slc7a2 A T 8: 41,368,032 (GRCm39) T599S probably damaging Het
Sox5 T C 6: 143,987,012 (GRCm39) N184S possibly damaging Het
Traf3 A G 12: 111,208,938 (GRCm39) E119G possibly damaging Het
Trim24 T C 6: 37,880,588 (GRCm39) probably benign Het
Ubxn11 A T 4: 133,853,551 (GRCm39) I368F probably damaging Het
Vmn2r27 C T 6: 124,207,188 (GRCm39) G151D probably damaging Het
Wfdc16 T A 2: 164,480,395 (GRCm39) R33S possibly damaging Het
Zfp654 A G 16: 64,605,433 (GRCm39) V382A possibly damaging Het
Other mutations in Sf3b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1109:Sf3b5 UTSW 10 12,884,497 (GRCm39) missense probably benign 0.33
R1146:Sf3b5 UTSW 10 12,884,575 (GRCm39) missense possibly damaging 0.61
R1146:Sf3b5 UTSW 10 12,884,575 (GRCm39) missense possibly damaging 0.61
R6913:Sf3b5 UTSW 10 12,884,487 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACGAACTGAGGTTTTGCG -3'
(R):5'- AATCCTCCACAGGTACGCAG -3'

Sequencing Primer
(F):5'- GGCAGCGTCTCTCACTTGAAC -3'
(R):5'- TCCACAGGTACGCAGGTCAG -3'
Posted On 2021-04-30