Incidental Mutation 'IGL02031:Setd3'
ID184353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setd3
Ensembl Gene ENSMUSG00000056770
Gene NameSET domain containing 3
Synonyms2610305M23Rik, 2610102I01Rik, D12Ertd771e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02031
Quality Score
Status
Chromosome12
Chromosomal Location108106431-108179314 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108163030 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 54 (W54R)
Ref Sequence ENSEMBL: ENSMUSP00000122520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071095] [ENSMUST00000109879] [ENSMUST00000125916] [ENSMUST00000132682] [ENSMUST00000147466]
Predicted Effect probably damaging
Transcript: ENSMUST00000071095
AA Change: W47R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: W47R

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 damaging
Transcript: ENSMUST00000109879
AA Change: W47R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
AA Change: W47R

DomainStartEndE-ValueType
Pfam:SET 105 287 6.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125916
AA Change: W54R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770
AA Change: W54R

DomainStartEndE-ValueType
PDB:3SMT|A 9 155 1e-100 PDB
Blast:SET 101 155 5e-32 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000132682
AA Change: W47R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123159
Gene: ENSMUSG00000056770
AA Change: W47R

DomainStartEndE-ValueType
PDB:3SMT|A 2 58 3e-30 PDB
SCOP:d1epua_ 50 79 6e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000147466
AA Change: W47R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121406
Gene: ENSMUSG00000056770
AA Change: W47R

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,179,769 F230S probably damaging Het
4931408C20Rik A G 1: 26,685,023 Y359H probably damaging Het
Aipl1 T C 11: 72,030,202 probably benign Het
Akap11 T C 14: 78,513,813 D378G possibly damaging Het
Ankrd33b A T 15: 31,325,183 F129L probably damaging Het
Apob A G 12: 8,015,222 K4064E probably benign Het
Arhgef10l T C 4: 140,575,345 D506G probably damaging Het
Arid4b A C 13: 14,153,412 probably benign Het
Ccdc88c A T 12: 100,933,311 Y1263N probably damaging Het
Ckap5 T C 2: 91,612,772 L1697P possibly damaging Het
Cpxm1 C T 2: 130,393,681 V464M probably damaging Het
Dhrs7c A G 11: 67,815,889 E291G probably benign Het
Dst C A 1: 34,189,917 P1872H possibly damaging Het
G6pc2 G A 2: 69,222,991 A130T probably benign Het
Gm4847 A G 1: 166,635,009 V304A probably damaging Het
Gm8267 T C 14: 44,717,917 D155G possibly damaging Het
Kank1 G A 19: 25,410,702 V580I probably benign Het
Kcnh4 A G 11: 100,745,823 S757P probably damaging Het
Krt34 C A 11: 100,039,023 A216S possibly damaging Het
Mfhas1 A T 8: 35,589,372 I334F probably damaging Het
Mrgprb8 A G 7: 48,389,339 M253V probably benign Het
Olfr503 A T 7: 108,544,930 H133L probably benign Het
Pp2d1 T A 17: 53,508,440 T419S probably damaging Het
Pprc1 T A 19: 46,072,343 probably benign Het
Reln A G 5: 21,979,016 S1662P probably damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Serinc2 C T 4: 130,264,444 W15* probably null Het
Serpina3k A G 12: 104,345,266 T368A probably benign Het
Slc9c1 G A 16: 45,599,470 S1001N probably benign Het
Snapc3 A G 4: 83,417,976 D75G probably benign Het
Stard9 T C 2: 120,702,339 S333P probably benign Het
Utrn T C 10: 12,735,204 D469G probably damaging Het
Other mutations in Setd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Setd3 APN 12 108160237 missense probably damaging 1.00
IGL01365:Setd3 APN 12 108157906 missense probably damaging 1.00
IGL02826:Setd3 APN 12 108112124 unclassified probably benign
IGL02878:Setd3 APN 12 108108555 critical splice donor site probably null
IGL03039:Setd3 APN 12 108162970 splice site probably null
R0332:Setd3 UTSW 12 108107579 missense probably benign
R1644:Setd3 UTSW 12 108113344 missense possibly damaging 0.88
R1776:Setd3 UTSW 12 108165161 missense probably damaging 1.00
R2018:Setd3 UTSW 12 108118254 missense probably damaging 1.00
R2025:Setd3 UTSW 12 108160267 missense probably damaging 1.00
R2041:Setd3 UTSW 12 108113392 missense possibly damaging 0.84
R2058:Setd3 UTSW 12 108107341 missense probably benign 0.03
R2206:Setd3 UTSW 12 108107285 missense probably benign 0.11
R2207:Setd3 UTSW 12 108107285 missense probably benign 0.11
R3973:Setd3 UTSW 12 108165158 missense possibly damaging 0.93
R3976:Setd3 UTSW 12 108165158 missense possibly damaging 0.93
R3978:Setd3 UTSW 12 108157942 missense possibly damaging 0.63
R4684:Setd3 UTSW 12 108108690 missense probably benign 0.05
R4965:Setd3 UTSW 12 108113371 missense probably benign 0.29
R5691:Setd3 UTSW 12 108160285 missense probably benign 0.19
R5990:Setd3 UTSW 12 108160335 missense probably benign
R6198:Setd3 UTSW 12 108165168 missense possibly damaging 0.66
R6241:Setd3 UTSW 12 108157855 missense probably benign 0.24
R6428:Setd3 UTSW 12 108113338 missense probably damaging 0.99
X0052:Setd3 UTSW 12 108107665 missense probably benign 0.37
Posted On2014-05-07