Incidental Mutation 'IGL03258:Setd7'
ID414742
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 #IGL03258
Quality Score
Status
Chromosome3
Chromosomal Location51515319-51560879 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) T to C at 51560515 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037141]
Predicted Effect probably null
Transcript: ENSMUST00000037141
SMART Domains Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192083
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,137,561 probably benign Het
Adam1b A G 5: 121,501,384 S533P possibly damaging Het
Akr1c6 G T 13: 4,436,409 G72C probably damaging Het
Carf C T 1: 60,109,229 T28I possibly damaging Het
Cog1 G A 11: 113,655,093 W398* probably null Het
Dmpk A G 7: 19,092,206 probably null Het
Dmxl1 T C 18: 49,920,893 V2534A probably damaging Het
Fam78b A T 1: 167,078,754 T161S probably damaging Het
Fgd6 A T 10: 94,133,353 T1161S probably benign Het
Gpr158 A T 2: 21,825,274 D710V probably damaging Het
H2-Q4 A G 17: 35,380,119 I122V probably benign Het
Ifi211 A T 1: 173,905,532 C188S probably benign Het
Lamc3 A C 2: 31,887,683 S114R probably damaging Het
Lrrc57 C T 2: 120,605,222 A239T probably damaging Het
Mdga1 A G 17: 29,839,913 Y707H probably damaging Het
Ms4a6b T G 19: 11,521,708 L62R probably damaging Het
Mtmr4 A T 11: 87,612,003 H961L possibly damaging Het
Myrip A G 9: 120,441,352 N556S probably benign Het
Osgep T C 14: 50,917,889 T71A possibly damaging Het
Plin4 T C 17: 56,104,371 T887A probably benign Het
Pwwp2a T A 11: 43,704,565 F186I probably benign Het
Serpina1b G T 12: 103,730,396 S251R probably benign Het
Slc24a5 G T 2: 125,080,705 probably null Het
Slc25a17 A G 15: 81,329,042 probably benign Het
Slc5a4a T C 10: 76,150,552 V98A possibly damaging Het
Susd1 A T 4: 59,379,655 I324N possibly damaging Het
Tcaf3 A G 6: 42,589,839 L772P probably damaging 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
IGL01466:Setd7 APN 3 51521309 makesense probably null
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
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
R7744:Setd7 UTSW 3 51526840 splice site probably null
R7828:Setd7 UTSW 3 51536657 critical splice acceptor site probably null
R7896:Setd7 UTSW 3 51536656 critical splice acceptor site probably null
R7979:Setd7 UTSW 3 51536656 critical splice acceptor site probably null
X0022:Setd7 UTSW 3 51542652 missense probably benign 0.10
Posted On2016-08-02