Incidental Mutation 'IGL02117:Setd7'
ID 280421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setd7
Ensembl Gene ENSMUSG00000037111
Gene Name SET domain containing (lysine methyltransferase) 7
Synonyms Set7/9, Set7, 1600028F23Rik, KMT7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 3
Chromosomal Location 51422740-51468300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51428826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 335 (Y335N)
Ref Sequence ENSEMBL: ENSMUSP00000043492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037141]
AlphaFold Q8VHL1
Predicted Effect probably damaging
Transcript: ENSMUST00000037141
AA Change: Y335N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: Y335N

DomainStartEndE-ValueType
Pfam:MORN 13 35 9e-3 PFAM
Pfam:MORN 36 58 1.7e-6 PFAM
Pfam:MORN 60 81 1.6e-6 PFAM
Pfam:MORN 106 128 2.2e-6 PFAM
SET 214 342 2.35e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a knock-out allele exhibit partial prenatal lethality and failure of mouse embryonic fibroblasts and spleen cells to arrest after doxorubicin treatment. Homozygotes for a different knock-out allele show resistance to bleomycin- or adenovirus-TGFbeta-induced pulmonary fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Setd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Setd7 APN 3 51,457,729 (GRCm39) missense probably benign 0.00
IGL00940:Setd7 APN 3 51,440,459 (GRCm39) missense probably damaging 1.00
IGL00943:Setd7 APN 3 51,440,459 (GRCm39) missense probably damaging 1.00
IGL00944:Setd7 APN 3 51,440,459 (GRCm39) missense probably damaging 1.00
IGL01466:Setd7 APN 3 51,428,730 (GRCm39) makesense probably null
IGL01810:Setd7 APN 3 51,440,388 (GRCm39) splice site probably benign
IGL01884:Setd7 APN 3 51,450,132 (GRCm39) missense possibly damaging 0.71
IGL02806:Setd7 APN 3 51,457,688 (GRCm39) missense probably damaging 0.97
IGL03258:Setd7 APN 3 51,467,936 (GRCm39) splice site probably null
IGL03404:Setd7 APN 3 51,440,407 (GRCm39) nonsense probably null
R0366:Setd7 UTSW 3 51,457,741 (GRCm39) missense probably benign 0.07
R1328:Setd7 UTSW 3 51,450,240 (GRCm39) missense possibly damaging 0.95
R1819:Setd7 UTSW 3 51,450,060 (GRCm39) missense probably benign 0.38
R1872:Setd7 UTSW 3 51,450,252 (GRCm39) missense probably benign 0.29
R2406:Setd7 UTSW 3 51,450,097 (GRCm39) missense probably damaging 0.99
R2513:Setd7 UTSW 3 51,440,436 (GRCm39) missense probably damaging 1.00
R4231:Setd7 UTSW 3 51,450,151 (GRCm39) missense probably benign 0.24
R4627:Setd7 UTSW 3 51,450,086 (GRCm39) missense probably damaging 0.99
R4687:Setd7 UTSW 3 51,457,776 (GRCm39) missense probably damaging 1.00
R4770:Setd7 UTSW 3 51,428,843 (GRCm39) missense probably damaging 1.00
R5212:Setd7 UTSW 3 51,450,238 (GRCm39) missense probably damaging 1.00
R5472:Setd7 UTSW 3 51,428,886 (GRCm39) missense probably benign 0.00
R6127:Setd7 UTSW 3 51,437,502 (GRCm39) missense probably damaging 1.00
R6647:Setd7 UTSW 3 51,450,183 (GRCm39) missense probably benign 0.00
R6966:Setd7 UTSW 3 51,437,605 (GRCm39) missense probably damaging 1.00
R7744:Setd7 UTSW 3 51,434,261 (GRCm39) splice site probably null
R7828:Setd7 UTSW 3 51,444,078 (GRCm39) critical splice acceptor site probably null
R7896:Setd7 UTSW 3 51,444,077 (GRCm39) critical splice acceptor site probably null
R8203:Setd7 UTSW 3 51,437,519 (GRCm39) nonsense probably null
R8283:Setd7 UTSW 3 51,428,796 (GRCm39) missense probably benign 0.11
R9489:Setd7 UTSW 3 51,450,139 (GRCm39) nonsense probably null
R9683:Setd7 UTSW 3 51,450,111 (GRCm39) missense possibly damaging 0.92
X0022:Setd7 UTSW 3 51,450,073 (GRCm39) missense probably benign 0.10
Posted On 2015-04-16