Incidental Mutation 'R1644:Setd3'
ID 173768
Institutional Source Beutler Lab
Gene Symbol Setd3
Ensembl Gene ENSMUSG00000056770
Gene Name SET domain containing 3
Synonyms D12Ertd771e, 2610102I01Rik, 2610305M23Rik
MMRRC Submission 039680-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1644 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 108072690-108145573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108079603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 300 (L300Q)
Ref Sequence ENSEMBL: ENSMUSP00000066413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071095] [ENSMUST00000109879] [ENSMUST00000132682] [ENSMUST00000147466]
AlphaFold Q91WC0
Predicted Effect possibly damaging
Transcript: ENSMUST00000071095
AA Change: L300Q

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: L300Q

DomainStartEndE-ValueType
Pfam:SET 105 314 2.1e-12 PFAM
Pfam:Rubis-subs-bind 345 475 3.7e-31 PFAM
low complexity region 565 577 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109879
SMART Domains Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770

DomainStartEndE-ValueType
Pfam:SET 105 287 6.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125210
Predicted Effect probably benign
Transcript: ENSMUST00000132682
SMART Domains Protein: ENSMUSP00000123159
Gene: ENSMUSG00000056770

DomainStartEndE-ValueType
PDB:3SMT|A 2 58 3e-30 PDB
SCOP:d1epua_ 50 79 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147466
SMART Domains Protein: ENSMUSP00000121406
Gene: ENSMUSG00000056770

DomainStartEndE-ValueType
PDB:3SMT|A 2 58 3e-30 PDB
SCOP:d1epua_ 50 79 6e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169951
Meta Mutation Damage Score 0.5419 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,484,814 (GRCm39) R8* probably null Het
Acacb A T 5: 114,333,346 (GRCm39) H490L probably damaging Het
Ace C A 11: 105,875,932 (GRCm39) H417N probably damaging Het
Adamtsl3 A G 7: 82,099,298 (GRCm39) N151D possibly damaging Het
Agap1 A G 1: 89,591,452 (GRCm39) N114S probably damaging Het
Arap3 A T 18: 38,117,298 (GRCm39) V926D probably damaging Het
Arhgap12 A T 18: 6,112,340 (GRCm39) I8N probably benign Het
Arhgef17 A T 7: 100,578,711 (GRCm39) F746I probably damaging Het
Atp6v0a1 T C 11: 100,929,612 (GRCm39) S471P possibly damaging Het
Bdp1 A G 13: 100,197,448 (GRCm39) V979A probably benign Het
Ccdc88c C A 12: 100,879,733 (GRCm39) R1789L probably damaging Het
Cckar A T 5: 53,857,215 (GRCm39) N327K probably benign Het
Cfap65 T C 1: 74,956,334 (GRCm39) T1082A probably damaging Het
Clcn7 T A 17: 25,378,672 (GRCm39) I719N probably damaging Het
Col27a1 C G 4: 63,246,868 (GRCm39) probably benign Het
Cspp1 C T 1: 10,196,663 (GRCm39) T179I probably damaging Het
Dnah1 C T 14: 31,024,249 (GRCm39) probably benign Het
Dnah6 A G 6: 73,132,279 (GRCm39) V1141A probably benign Het
Dusp4 A G 8: 35,285,633 (GRCm39) Y298C probably damaging Het
Efhc1 C A 1: 21,037,625 (GRCm39) Y267* probably null Het
Eif2s1 T A 12: 78,913,295 (GRCm39) probably null Het
Epo A G 5: 137,481,417 (GRCm39) V169A possibly damaging Het
Esr1 A T 10: 4,951,380 (GRCm39) Y586F probably benign Het
Fat2 T C 11: 55,178,609 (GRCm39) T1484A possibly damaging Het
Fat2 T C 11: 55,187,007 (GRCm39) T1280A possibly damaging Het
Gm5828 T C 1: 16,839,485 (GRCm39) noncoding transcript Het
Idh3b T C 2: 130,123,430 (GRCm39) I187V possibly damaging Het
Kif13a A C 13: 46,947,398 (GRCm39) V862G probably benign Het
Kndc1 A G 7: 139,510,669 (GRCm39) D1327G probably damaging Het
Mfsd9 T A 1: 40,812,958 (GRCm39) R452S probably benign Het
Myh15 C T 16: 48,952,566 (GRCm39) R879C probably benign Het
Naip2 T C 13: 100,319,437 (GRCm39) R260G possibly damaging Het
Npat T G 9: 53,481,472 (GRCm39) L1060R probably damaging Het
Or2aj4 T A 16: 19,385,156 (GRCm39) H159L probably benign Het
Or4c126 A T 2: 89,824,297 (GRCm39) T187S possibly damaging Het
Or4c15 A T 2: 88,759,731 (GRCm39) D309E probably benign Het
Or52n2b A C 7: 104,566,015 (GRCm39) F163V probably benign Het
Or6f2 T C 7: 139,756,561 (GRCm39) V176A probably benign Het
Pld5 T C 1: 175,803,192 (GRCm39) T296A possibly damaging Het
Polq C T 16: 36,880,626 (GRCm39) A651V probably damaging Het
Polr3a G A 14: 24,520,692 (GRCm39) P607S probably damaging Het
Ranbp9 G A 13: 43,566,015 (GRCm39) R424C probably damaging Het
Rsl1 G A 13: 67,325,229 (GRCm39) probably benign Het
Sema4c A G 1: 36,589,885 (GRCm39) S490P probably damaging Het
Slc15a3 T C 19: 10,834,595 (GRCm39) I492T possibly damaging Het
Stag1 T C 9: 100,762,953 (GRCm39) probably benign Het
Tgm4 A G 9: 122,880,481 (GRCm39) Y294C probably damaging Het
Tm9sf1 A G 14: 55,878,757 (GRCm39) S212P probably benign Het
Tmcc1 A G 6: 116,110,826 (GRCm39) S156P probably damaging Het
Vmn1r184 A C 7: 25,966,670 (GRCm39) M139L probably benign Het
Vmn1r209 A C 13: 22,990,652 (GRCm39) F13V possibly damaging Het
Xkr5 T C 8: 18,984,141 (GRCm39) E467G probably benign Het
Zdbf2 C T 1: 63,348,131 (GRCm39) S2170L possibly damaging Het
Zfp277 G T 12: 40,379,609 (GRCm39) probably null Het
Zfp62 T C 11: 49,106,596 (GRCm39) I229T probably damaging Het
Zfp810 A G 9: 22,190,324 (GRCm39) S195P possibly damaging Het
Zfp94 G A 7: 24,010,927 (GRCm39) probably benign Het
Other mutations in Setd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Setd3 APN 12 108,126,496 (GRCm39) missense probably damaging 1.00
IGL01365:Setd3 APN 12 108,124,165 (GRCm39) missense probably damaging 1.00
IGL02031:Setd3 APN 12 108,129,289 (GRCm39) missense probably damaging 1.00
IGL02826:Setd3 APN 12 108,078,383 (GRCm39) unclassified probably benign
IGL02878:Setd3 APN 12 108,074,814 (GRCm39) critical splice donor site probably null
IGL03039:Setd3 APN 12 108,129,229 (GRCm39) splice site probably null
R0332:Setd3 UTSW 12 108,073,838 (GRCm39) missense probably benign
R1776:Setd3 UTSW 12 108,131,420 (GRCm39) missense probably damaging 1.00
R2018:Setd3 UTSW 12 108,084,513 (GRCm39) missense probably damaging 1.00
R2025:Setd3 UTSW 12 108,126,526 (GRCm39) missense probably damaging 1.00
R2041:Setd3 UTSW 12 108,079,651 (GRCm39) missense possibly damaging 0.84
R2058:Setd3 UTSW 12 108,073,600 (GRCm39) missense probably benign 0.03
R2206:Setd3 UTSW 12 108,073,544 (GRCm39) missense probably benign 0.11
R2207:Setd3 UTSW 12 108,073,544 (GRCm39) missense probably benign 0.11
R3973:Setd3 UTSW 12 108,131,417 (GRCm39) missense possibly damaging 0.93
R3976:Setd3 UTSW 12 108,131,417 (GRCm39) missense possibly damaging 0.93
R3978:Setd3 UTSW 12 108,124,201 (GRCm39) missense possibly damaging 0.63
R4684:Setd3 UTSW 12 108,074,949 (GRCm39) missense probably benign 0.05
R4965:Setd3 UTSW 12 108,079,630 (GRCm39) missense probably benign 0.29
R5691:Setd3 UTSW 12 108,126,544 (GRCm39) missense probably benign 0.19
R5990:Setd3 UTSW 12 108,126,594 (GRCm39) missense probably benign
R6198:Setd3 UTSW 12 108,131,427 (GRCm39) missense possibly damaging 0.66
R6241:Setd3 UTSW 12 108,124,114 (GRCm39) missense probably benign 0.24
R6428:Setd3 UTSW 12 108,079,597 (GRCm39) missense probably damaging 0.99
R7652:Setd3 UTSW 12 108,078,548 (GRCm39) missense probably damaging 1.00
R7913:Setd3 UTSW 12 108,073,924 (GRCm39) missense probably benign 0.37
R8221:Setd3 UTSW 12 108,073,612 (GRCm39) missense possibly damaging 0.91
R9585:Setd3 UTSW 12 108,074,814 (GRCm39) critical splice donor site probably null
X0052:Setd3 UTSW 12 108,073,924 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- AGGATTTAGCTACCTAAGCCCCACC -3'
(R):5'- TGGAAATGCCTGGCACCCTTAC -3'

Sequencing Primer
(F):5'- CCACAGTATCACATATAGTGGTTCAG -3'
(R):5'- GGCACCCTTACCGGCTC -3'
Posted On 2014-04-24