Incidental Mutation 'R6198:Setd3'
ID 503056
Institutional Source Beutler Lab
Gene Symbol Setd3
Ensembl Gene ENSMUSG00000056770
Gene Name SET domain containing 3
Synonyms D12Ertd771e, 2610102I01Rik, 2610305M23Rik
MMRRC Submission 044338-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6198 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 108072690-108145573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108131427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 7 (K7E)
Ref Sequence ENSEMBL: ENSMUSP00000122520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071095] [ENSMUST00000109879] [ENSMUST00000125916] [ENSMUST00000132682] [ENSMUST00000147466]
AlphaFold Q91WC0
Predicted Effect probably benign
Transcript: ENSMUST00000071095
SMART Domains Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770

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 possibly damaging
Transcript: ENSMUST00000125916
AA Change: K7E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770
AA Change: K7E

DomainStartEndE-ValueType
PDB:3SMT|A 9 155 1e-100 PDB
Blast:SET 101 155 5e-32 BLAST
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: ENSMUST00000169951
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acsbg3 A G 17: 57,189,679 (GRCm39) S265G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Bcas3 A T 11: 85,400,261 (GRCm39) D410V probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Elf2 A T 3: 51,184,670 (GRCm39) L5Q probably damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Ifi203 A T 1: 173,751,648 (GRCm39) M391K probably damaging Het
Itih2 A G 2: 10,103,352 (GRCm39) Y712H probably benign Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nckap5l T C 15: 99,323,869 (GRCm39) K878R probably damaging Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Tmem63b C T 17: 45,972,442 (GRCm39) V722I probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y 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
R1644:Setd3 UTSW 12 108,079,603 (GRCm39) missense possibly damaging 0.88
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
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'- TAAACCCCTGCAGAGGAGTG -3'
(R):5'- CGTGCACTTTGTCTGCTGAG -3'

Sequencing Primer
(F):5'- GAGTGAAAGGCATGCCACCC -3'
(R):5'- CTGAGACTGCTGTGCATGC -3'
Posted On 2018-02-27