Incidental Mutation 'IGL01466:Setd7'
ID88110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setd7
Ensembl Gene ENSMUSG00000037111
Gene NameSET domain containing (lysine methyltransferase) 7
SynonymsKMT7, Set7, 1600028F23Rik, Set7/9
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01466
Quality Score
Status
Chromosome3
Chromosomal Location51515319-51560879 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to T at 51521309 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 367 (*367R)
Ref Sequence ENSEMBL: ENSMUSP00000043492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037141]
Predicted Effect probably null
Transcript: ENSMUST00000037141
AA Change: *367R
SMART Domains Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: *367R

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,573,994 N293D probably benign Het
Ankrd49 A G 9: 14,781,349 L173P probably damaging Het
Ccdc152 A G 15: 3,293,847 probably benign Het
Cdh3 G T 8: 106,536,595 R92L possibly damaging Het
Dnajc10 A T 2: 80,321,287 R137S probably benign Het
Dusp27 T G 1: 166,100,504 D513A probably damaging Het
Htra2 A G 6: 83,054,323 L35P probably damaging Het
Il23r A T 6: 67,426,642 M425K probably benign Het
Nfkb2 G T 19: 46,308,016 R241L probably damaging Het
Nup205 A G 6: 35,199,959 D630G probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Peli2 T C 14: 48,256,457 Y379H probably damaging Het
Plekhg6 G T 6: 125,372,624 probably benign Het
Samd14 G T 11: 95,023,255 probably benign Het
Slc26a8 A G 17: 28,654,948 V355A probably benign Het
Slc46a2 T A 4: 59,911,926 K429* probably null Het
Tspan32 T C 7: 143,014,954 probably benign Het
Unc80 T C 1: 66,622,486 V1690A probably benign Het
Ush2a C A 1: 188,911,622 Q4394K probably benign Het
Zfp277 C A 12: 40,378,826 G174V probably benign Het
Other mutations in Setd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Setd7 APN 3 51550308 missense probably benign 0.00
IGL00940:Setd7 APN 3 51533038 missense probably damaging 1.00
IGL00943:Setd7 APN 3 51533038 missense probably damaging 1.00
IGL00944:Setd7 APN 3 51533038 missense probably damaging 1.00
IGL01810:Setd7 APN 3 51532967 splice site probably benign
IGL01884:Setd7 APN 3 51542711 missense possibly damaging 0.71
IGL02117:Setd7 APN 3 51521405 missense probably damaging 1.00
IGL02806:Setd7 APN 3 51550267 missense probably damaging 0.97
IGL03258:Setd7 APN 3 51560515 splice site probably null
IGL03404:Setd7 APN 3 51532986 nonsense probably null
R0366:Setd7 UTSW 3 51550320 missense probably benign 0.07
R1328:Setd7 UTSW 3 51542819 missense possibly damaging 0.95
R1819:Setd7 UTSW 3 51542639 missense probably benign 0.38
R1872:Setd7 UTSW 3 51542831 missense probably benign 0.29
R2406:Setd7 UTSW 3 51542676 missense probably damaging 0.99
R2513:Setd7 UTSW 3 51533015 missense probably damaging 1.00
R4231:Setd7 UTSW 3 51542730 missense probably benign 0.24
R4627:Setd7 UTSW 3 51542665 missense probably damaging 0.99
R4687:Setd7 UTSW 3 51550355 missense probably damaging 1.00
R4770:Setd7 UTSW 3 51521422 missense probably damaging 1.00
R5212:Setd7 UTSW 3 51542817 missense probably damaging 1.00
R5472:Setd7 UTSW 3 51521465 missense probably benign 0.00
R6127:Setd7 UTSW 3 51530081 missense probably damaging 1.00
R6647:Setd7 UTSW 3 51542762 missense probably benign 0.00
R6966:Setd7 UTSW 3 51530184 missense probably damaging 1.00
X0022:Setd7 UTSW 3 51542652 missense probably benign 0.10
Posted On2013-11-18