Incidental Mutation 'IGL02217:Setd4'
ID 284955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setd4
Ensembl Gene ENSMUSG00000022948
Gene Name SET domain containing 4
Synonyms ORF21
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02217
Quality Score
Status
Chromosome 16
Chromosomal Location 93380345-93400951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93390183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 82 (L82P)
Ref Sequence ENSEMBL: ENSMUSP00000023669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023669] [ENSMUST00000113951]
AlphaFold P58467
Predicted Effect probably damaging
Transcript: ENSMUST00000023669
AA Change: L82P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023669
Gene: ENSMUSG00000022948
AA Change: L82P

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:SET 58 272 3.2e-11 PFAM
Pfam:Rubis-subs-bind 306 424 5.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113951
AA Change: L82P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109584
Gene: ENSMUSG00000022948
AA Change: L82P

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:SET 58 272 9.1e-14 PFAM
Pfam:Rubis-subs-bind 308 424 1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156298
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cul3 A T 1: 80,261,484 (GRCm39) M247K probably damaging Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hace1 A T 10: 45,466,471 (GRCm39) probably null Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nme4 A G 17: 26,312,834 (GRCm39) M108T probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or2bd2 T A 7: 6,443,244 (GRCm39) I115N probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Proser1 A G 3: 53,378,912 (GRCm39) K115E probably damaging Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rbbp8nl A G 2: 179,919,981 (GRCm39) probably benign Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T probably benign Het
Other mutations in Setd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Setd4 APN 16 93,388,127 (GRCm39) missense probably damaging 1.00
R0370:Setd4 UTSW 16 93,388,006 (GRCm39) missense probably damaging 0.99
R0573:Setd4 UTSW 16 93,386,834 (GRCm39) missense probably benign
R1103:Setd4 UTSW 16 93,382,082 (GRCm39) missense probably benign 0.01
R1631:Setd4 UTSW 16 93,390,136 (GRCm39) nonsense probably null
R1826:Setd4 UTSW 16 93,388,187 (GRCm39) nonsense probably null
R2356:Setd4 UTSW 16 93,387,871 (GRCm39) missense probably damaging 1.00
R2360:Setd4 UTSW 16 93,383,122 (GRCm39) splice site probably benign
R4362:Setd4 UTSW 16 93,380,574 (GRCm39) splice site probably null
R4630:Setd4 UTSW 16 93,388,114 (GRCm39) missense probably benign 0.00
R4823:Setd4 UTSW 16 93,386,838 (GRCm39) missense probably benign 0.00
R5004:Setd4 UTSW 16 93,388,133 (GRCm39) missense probably benign 0.02
R5257:Setd4 UTSW 16 93,393,221 (GRCm39) missense probably damaging 0.98
R6667:Setd4 UTSW 16 93,386,918 (GRCm39) missense probably benign 0.16
R6798:Setd4 UTSW 16 93,386,841 (GRCm39) missense probably damaging 1.00
R7296:Setd4 UTSW 16 93,380,830 (GRCm39) splice site probably null
R7313:Setd4 UTSW 16 93,388,132 (GRCm39) missense probably benign 0.09
R7314:Setd4 UTSW 16 93,384,711 (GRCm39) missense probably benign 0.13
R8786:Setd4 UTSW 16 93,390,162 (GRCm39) missense probably benign 0.01
R8866:Setd4 UTSW 16 93,386,961 (GRCm39) missense probably damaging 0.97
R9153:Setd4 UTSW 16 93,384,722 (GRCm39) missense possibly damaging 0.96
R9363:Setd4 UTSW 16 93,388,009 (GRCm39) missense probably benign 0.08
R9627:Setd4 UTSW 16 93,380,562 (GRCm39) missense possibly damaging 0.87
Posted On 2015-04-16