Incidental Mutation 'IGL02257:Setd6'
ID 286638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setd6
Ensembl Gene ENSMUSG00000031671
Gene Name SET domain containing 6
Synonyms 0610039J04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02257
Quality Score
Status
Chromosome 8
Chromosomal Location 96442509-96445638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96443320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 188 (Y188H)
Ref Sequence ENSEMBL: ENSMUSP00000034096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034096] [ENSMUST00000041318] [ENSMUST00000068452] [ENSMUST00000073139] [ENSMUST00000080666] [ENSMUST00000098473] [ENSMUST00000148727] [ENSMUST00000141900] [ENSMUST00000211887] [ENSMUST00000162578] [ENSMUST00000213006] [ENSMUST00000166358]
AlphaFold Q9CWY3
Predicted Effect probably damaging
Transcript: ENSMUST00000034096
AA Change: Y188H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034096
Gene: ENSMUSG00000031671
AA Change: Y188H

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
SET 62 293 1.84e0 SMART
Pfam:Rubis-subs-bind 330 465 1.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041318
SMART Domains Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ndr 60 342 3.1e-126 PFAM
low complexity region 360 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068452
SMART Domains Protein: ENSMUSP00000063565
Gene: ENSMUSG00000036550

DomainStartEndE-ValueType
low complexity region 181 189 N/A INTRINSIC
low complexity region 687 698 N/A INTRINSIC
low complexity region 779 796 N/A INTRINSIC
PDB:4J8S|A 798 999 1e-137 PDB
low complexity region 1011 1028 N/A INTRINSIC
low complexity region 1031 1055 N/A INTRINSIC
PDB:4CT4|C 1056 1295 1e-148 PDB
low complexity region 1296 1308 N/A INTRINSIC
low complexity region 1328 1345 N/A INTRINSIC
Pfam:DUF3819 1381 1530 2.5e-56 PFAM
low complexity region 1634 1648 N/A INTRINSIC
Pfam:Not1 1991 2305 2.4e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073139
SMART Domains Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564

DomainStartEndE-ValueType
Pfam:Ndr 8 290 2e-126 PFAM
Pfam:Abhydrolase_6 43 278 1.2e-16 PFAM
low complexity region 308 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080666
SMART Domains Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564

DomainStartEndE-ValueType
Pfam:Ndr 8 290 9.9e-127 PFAM
Pfam:Abhydrolase_6 43 278 1.1e-16 PFAM
low complexity region 295 310 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098473
SMART Domains Protein: ENSMUSP00000096073
Gene: ENSMUSG00000036550

DomainStartEndE-ValueType
low complexity region 181 189 N/A INTRINSIC
Pfam:CNOT1_HEAT 500 656 2.4e-57 PFAM
low complexity region 687 698 N/A INTRINSIC
low complexity region 779 796 N/A INTRINSIC
Pfam:CNOT1_TTP_bind 812 1004 1.4e-87 PFAM
low complexity region 1016 1033 N/A INTRINSIC
low complexity region 1036 1060 N/A INTRINSIC
Pfam:CNOT1_CAF1_bind 1087 1313 5.7e-99 PFAM
low complexity region 1333 1350 N/A INTRINSIC
Pfam:DUF3819 1387 1534 2.3e-57 PFAM
low complexity region 1639 1653 N/A INTRINSIC
Pfam:Not1 1998 2357 5.7e-157 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148727
AA Change: Y25H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000141900
AA Change: Y28H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161314
Predicted Effect probably benign
Transcript: ENSMUST00000211887
Predicted Effect probably benign
Transcript: ENSMUST00000162578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154052
Predicted Effect probably benign
Transcript: ENSMUST00000213006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154593
Predicted Effect probably benign
Transcript: ENSMUST00000166358
SMART Domains Protein: ENSMUSP00000131203
Gene: ENSMUSG00000036564

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat C T 11: 116,486,535 (GRCm39) Q25* probably null Het
Adam8 A T 7: 139,567,561 (GRCm39) V394D possibly damaging Het
Ahnak2 A G 12: 112,748,905 (GRCm39) F314S possibly damaging Het
Arsg T C 11: 109,412,473 (GRCm39) probably benign Het
Atp13a2 T G 4: 140,733,400 (GRCm39) V958G probably benign Het
Ces5a T C 8: 94,252,226 (GRCm39) D218G probably benign Het
Cntnap4 T A 8: 113,343,126 (GRCm39) L63Q probably damaging Het
Cped1 A G 6: 22,145,606 (GRCm39) T655A possibly damaging Het
Ddc A T 11: 11,823,171 (GRCm39) L133* probably null Het
Fat4 C T 3: 39,055,288 (GRCm39) A4169V probably benign Het
Gnpat T C 8: 125,613,587 (GRCm39) probably benign Het
Gpd2 A G 2: 57,254,536 (GRCm39) D678G probably benign Het
Hk1 T C 10: 62,107,422 (GRCm39) D851G probably benign Het
Hsd11b2 G A 8: 106,249,854 (GRCm39) V322I probably benign Het
Hsd17b3 G A 13: 64,207,276 (GRCm39) T255M probably benign Het
Hsp90b1 T C 10: 86,534,453 (GRCm39) S284G probably damaging Het
Med1 T A 11: 98,071,096 (GRCm39) I69L probably damaging Het
Mmut C T 17: 41,249,625 (GRCm39) T200I possibly damaging Het
Morn3 T G 5: 123,175,788 (GRCm39) D200A probably damaging Het
Mtss1 A G 15: 58,828,394 (GRCm39) V173A probably damaging Het
Myl6b T C 10: 128,333,210 (GRCm39) probably benign Het
Nin A G 12: 70,149,465 (GRCm39) V48A possibly damaging Het
Odr4 A T 1: 150,262,155 (GRCm39) I95N probably damaging Het
Or10w1 G A 19: 13,632,629 (GRCm39) V279I probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Phlpp2 T A 8: 110,646,731 (GRCm39) V529E possibly damaging Het
Pnlip G A 19: 58,662,306 (GRCm39) V151I probably benign Het
Pus7 A C 5: 23,967,459 (GRCm39) H247Q probably damaging Het
Siglecg T C 7: 43,061,328 (GRCm39) S444P probably benign Het
Sox9 C A 11: 112,675,811 (GRCm39) H333Q possibly damaging Het
Specc1 T A 11: 62,009,243 (GRCm39) I333N probably damaging Het
Tmprss11e G A 5: 86,872,039 (GRCm39) T59I probably damaging Het
Vmn2r93 A C 17: 18,545,770 (GRCm39) probably benign Het
Vrk2 A T 11: 26,484,266 (GRCm39) V163D probably damaging Het
Other mutations in Setd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02984:Setd6 UTSW 8 96,442,903 (GRCm39) splice site probably null
R0021:Setd6 UTSW 8 96,443,293 (GRCm39) missense probably damaging 1.00
R0140:Setd6 UTSW 8 96,442,737 (GRCm39) missense probably damaging 1.00
R1487:Setd6 UTSW 8 96,444,556 (GRCm39) missense probably damaging 1.00
R2073:Setd6 UTSW 8 96,443,416 (GRCm39) missense probably damaging 1.00
R4672:Setd6 UTSW 8 96,444,640 (GRCm39) missense probably null 0.11
R4817:Setd6 UTSW 8 96,443,683 (GRCm39) unclassified probably benign
R5960:Setd6 UTSW 8 96,442,827 (GRCm39) missense probably damaging 1.00
R7775:Setd6 UTSW 8 96,442,866 (GRCm39) missense probably benign 0.05
R7778:Setd6 UTSW 8 96,442,866 (GRCm39) missense probably benign 0.05
R7824:Setd6 UTSW 8 96,442,866 (GRCm39) missense probably benign 0.05
R8049:Setd6 UTSW 8 96,443,316 (GRCm39) missense probably benign
Posted On 2015-04-16