Incidental Mutation 'IGL01365:Setd3'
ID75915
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 #IGL01365
Quality Score
Status
Chromosome12
Chromosomal Location108106431-108179314 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108157906 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 175 (Y175N)
Ref Sequence ENSEMBL: ENSMUSP00000105505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071095] [ENSMUST00000109879] [ENSMUST00000125916] [ENSMUST00000132682] [ENSMUST00000147466]
Predicted Effect probably damaging
Transcript: ENSMUST00000071095
AA Change: Y175N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: Y175N

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: Y175N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
AA Change: Y175N

DomainStartEndE-ValueType
Pfam:SET 105 287 6.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125916
SMART Domains Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 G T 8: 83,723,889 probably null Het
Agtr1a A G 13: 30,381,828 Y292C probably damaging Het
Btbd11 T C 10: 85,633,816 V867A possibly damaging Het
CK137956 A G 4: 127,951,342 S203P probably benign Het
Cnbd1 C T 4: 18,860,576 G390D probably damaging Het
Cttnbp2nl T C 3: 105,005,030 T513A probably damaging Het
Dppa2 A G 16: 48,313,913 K67R possibly damaging Het
Kif3a A G 11: 53,593,523 K486E possibly damaging Het
Lmnb2 G T 10: 80,904,984 Q151K probably benign Het
Lmtk3 T A 7: 45,790,907 L223Q probably damaging Het
Lrrk1 A G 7: 66,287,701 I901T probably damaging Het
Macf1 T C 4: 123,391,169 Y3624C probably damaging Het
Mios T A 6: 8,216,089 Y428* probably null Het
Myb A G 10: 21,152,502 I154T probably benign Het
Olfr294 T C 7: 86,615,997 Y216C probably damaging Het
Parp9 C T 16: 35,947,954 T168I possibly damaging Het
Pramel7 T C 2: 87,491,413 probably benign Het
Ptar1 T A 19: 23,705,801 W140R probably damaging Het
Sec14l2 G T 11: 4,098,317 D400E probably benign Het
Slc5a8 C T 10: 88,892,097 probably benign Het
Slc8a3 A G 12: 81,315,376 V223A probably damaging Het
Srsf1 G T 11: 88,049,181 R173L possibly damaging Het
Svep1 T A 4: 58,100,878 probably null Het
Tead2 T A 7: 45,217,251 D11E probably damaging Het
Trappc12 T A 12: 28,747,402 I44F probably damaging Het
Ttll9 T C 2: 153,000,134 Y303H possibly damaging Het
Vmn1r28 T A 6: 58,265,191 N6K possibly damaging Het
Other mutations in Setd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Setd3 APN 12 108160237 missense probably damaging 1.00
IGL02031:Setd3 APN 12 108163030 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 On2013-10-07