Incidental Mutation 'IGL01810:Setd7'
ID 155828
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 # IGL01810
Quality Score
Status
Chromosome 3
Chromosomal Location 51422740-51468300 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 51440388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037141]
AlphaFold Q8VHL1
Predicted Effect probably benign
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: ENSMUST00000161755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195080
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,308,185 (GRCm39) Y10* probably null Het
Aass C A 6: 23,107,633 (GRCm39) Q383H probably damaging Het
Bag1 T C 4: 40,936,657 (GRCm39) D333G probably damaging Het
Cap2 A G 13: 46,793,425 (GRCm39) probably benign Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Cr2 A G 1: 194,841,903 (GRCm39) V726A possibly damaging Het
Csmd2 A G 4: 128,374,638 (GRCm39) probably benign Het
Dennd4c A G 4: 86,717,788 (GRCm39) D595G possibly damaging Het
Ercc2 G T 7: 19,127,374 (GRCm39) R340L probably damaging Het
Espl1 A G 15: 102,206,640 (GRCm39) T35A probably benign Het
Fndc3a A G 14: 72,803,581 (GRCm39) Y525H probably benign Het
Gm4922 T C 10: 18,659,795 (GRCm39) Q309R probably benign Het
Gm5263 T C 1: 146,296,292 (GRCm39) noncoding transcript Het
Gm6563 A C 19: 23,653,751 (GRCm39) R180S probably damaging Het
Gpr182 C A 10: 127,586,733 (GRCm39) V73F probably damaging Het
Gramd1b C T 9: 40,227,069 (GRCm39) R179H probably damaging Het
Hk1 C T 10: 62,188,884 (GRCm39) A10T probably benign Het
Hmgn3 C A 9: 82,992,437 (GRCm39) probably benign Het
Il1b C T 2: 129,211,649 (GRCm39) E24K probably damaging Het
Itgb6 G T 2: 60,458,329 (GRCm39) Q475K probably benign Het
Lrrc74b A G 16: 17,363,422 (GRCm39) S368P probably benign Het
Mfsd2b T C 12: 4,916,469 (GRCm39) T234A possibly damaging Het
Muc6 A T 7: 141,237,327 (GRCm39) Y270N probably damaging Het
Naip6 A G 13: 100,424,603 (GRCm39) probably benign Het
Or4b13 A T 2: 90,082,476 (GRCm39) Y285* probably null Het
Pear1 G A 3: 87,659,608 (GRCm39) T742I probably damaging Het
Peli2 G A 14: 48,493,491 (GRCm39) V238I probably benign Het
Pira2 A G 7: 3,847,611 (GRCm39) L26P probably damaging Het
Pot1b A G 17: 55,969,521 (GRCm39) V549A possibly damaging Het
Prdm16 T C 4: 154,432,384 (GRCm39) Y295C probably benign Het
Ptprd A T 4: 76,058,744 (GRCm39) probably benign Het
Rap1gap A T 4: 137,443,466 (GRCm39) M145L probably benign Het
Ssx2ip T C 3: 146,133,765 (GRCm39) I258T probably benign Het
Stard9 T C 2: 120,529,565 (GRCm39) Y1941H possibly damaging Het
Stxbp3 T C 3: 108,707,468 (GRCm39) E420G probably benign Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Tpx2 G T 2: 152,726,155 (GRCm39) Q373H probably damaging Het
Ttn C T 2: 76,557,352 (GRCm39) R29914Q probably damaging Het
Ubr3 T C 2: 69,833,809 (GRCm39) probably null Het
Usp18 G A 6: 121,230,730 (GRCm39) G53D probably damaging Het
Vps13c A T 9: 67,863,062 (GRCm39) H3026L probably benign Het
Zan T C 5: 137,461,888 (GRCm39) E1097G unknown 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
IGL01884:Setd7 APN 3 51,450,132 (GRCm39) missense possibly damaging 0.71
IGL02117:Setd7 APN 3 51,428,826 (GRCm39) missense probably damaging 1.00
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 2014-02-04