Incidental Mutation 'R1819:Setd7'
ID 204680
Institutional Source Beutler Lab
Gene Symbol Setd7
Ensembl Gene ENSMUSG00000037111
Gene Name SET domain containing (lysine methyltransferase) 7
Synonyms Set7/9, Set7, 1600028F23Rik, KMT7
MMRRC Submission 039847-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1819 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 51422740-51468300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51450060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 122 (H122P)
Ref Sequence ENSEMBL: ENSMUSP00000043492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037141]
AlphaFold Q8VHL1
Predicted Effect probably benign
Transcript: ENSMUST00000037141
AA Change: H122P

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: H122P

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 100% (91/91)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,871,882 (GRCm39) probably null Het
Abhd17a T C 10: 80,422,470 (GRCm39) T71A probably benign Het
Acad11 G A 9: 103,991,738 (GRCm39) probably null Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afdn A G 17: 14,071,110 (GRCm39) T783A probably damaging Het
Akap13 T A 7: 75,258,453 (GRCm39) M359K probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atl1 T C 12: 70,010,074 (GRCm39) S547P probably benign Het
Bace1 A T 9: 45,768,460 (GRCm39) T252S possibly damaging Het
BC034090 A G 1: 155,101,575 (GRCm39) S230P possibly damaging Het
Bnc2 A G 4: 84,210,111 (GRCm39) F778L possibly damaging Het
Capn2 T A 1: 182,300,162 (GRCm39) K609N probably benign Het
Capn8 T A 1: 182,426,391 (GRCm39) I242N probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc180 A G 4: 45,926,195 (GRCm39) E1135G possibly damaging Het
Ccdc181 C T 1: 164,110,047 (GRCm39) Q385* probably null Het
Cdh10 G T 15: 18,992,051 (GRCm39) G437* probably null Het
Ceacam1 T A 7: 25,163,285 (GRCm39) Q316L possibly damaging Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cers4 T A 8: 4,571,232 (GRCm39) M267K probably benign Het
Csmd3 T C 15: 47,617,131 (GRCm39) D1930G possibly damaging Het
Cyp2j11 A T 4: 96,185,976 (GRCm39) V403D probably damaging Het
Cyp4v3 G A 8: 45,768,673 (GRCm39) R296C possibly damaging Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dus2 T A 8: 106,778,480 (GRCm39) W377R probably damaging Het
E330034G19Rik A G 14: 24,348,081 (GRCm39) D111G probably damaging Het
Erich4 C T 7: 25,314,715 (GRCm39) R66Q possibly damaging Het
Fcgbp G T 7: 27,784,708 (GRCm39) R256L probably benign Het
Fdxr A T 11: 115,166,930 (GRCm39) F53Y probably damaging Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Foxo3 A T 10: 42,073,607 (GRCm39) D84E probably benign Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Gli3 C T 13: 15,900,377 (GRCm39) Q1255* probably null Het
Gm4847 T A 1: 166,465,788 (GRCm39) H267L probably damaging Het
Gpr171 T C 3: 59,005,341 (GRCm39) I145V probably benign Het
Gpr68 T A 12: 100,844,662 (GRCm39) H294L possibly damaging Het
Gys2 T C 6: 142,406,912 (GRCm39) E148G probably damaging Het
Heatr5b T C 17: 79,098,940 (GRCm39) D1320G probably damaging Het
Ifnlr1 G T 4: 135,413,834 (GRCm39) probably benign Het
Ift88 G A 14: 57,692,976 (GRCm39) E392K probably damaging Het
Igsf9b T A 9: 27,222,889 (GRCm39) S97T probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kcnj11 C T 7: 45,748,580 (GRCm39) G248S probably benign Het
Kif28 T C 1: 179,533,319 (GRCm39) K541E possibly damaging Het
Lilrb4a A G 10: 51,372,124 (GRCm39) Y205C probably damaging Het
Lima1 T A 15: 99,717,817 (GRCm39) H63L probably benign Het
Lonrf3 A G X: 35,622,361 (GRCm39) I687V probably damaging Het
Lrba A G 3: 86,449,941 (GRCm39) T2099A possibly damaging Het
Morn5 C T 2: 35,942,987 (GRCm39) T29M probably damaging Het
Neurl1b G A 17: 26,657,674 (GRCm39) R22H probably benign Het
Nr2e3 T C 9: 59,850,720 (GRCm39) I380V probably damaging Het
Oas1c G A 5: 120,946,800 (GRCm39) A10V possibly damaging Het
Or1e35 T C 11: 73,797,505 (GRCm39) E271G probably benign Het
Or52e8 C T 7: 104,624,605 (GRCm39) V196I probably benign Het
P3h3 T C 6: 124,831,895 (GRCm39) T297A probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Plec C T 15: 76,064,106 (GRCm39) R2056Q probably damaging Het
Plxna2 T A 1: 194,472,494 (GRCm39) N1079K probably benign Het
Prr12 G C 7: 44,698,121 (GRCm39) probably benign Het
Psip1 A G 4: 83,376,400 (GRCm39) S480P probably benign Het
Ptpre A G 7: 135,270,722 (GRCm39) probably benign Het
Pvalb A C 15: 78,086,784 (GRCm39) V44G probably damaging Het
Rab3c T G 13: 110,220,669 (GRCm39) Q164P possibly damaging Het
Rubcn T C 16: 32,647,284 (GRCm39) K703R possibly damaging Het
Slc26a8 A T 17: 28,903,808 (GRCm39) F19I probably benign Het
Slc6a14 A G X: 21,607,286 (GRCm39) D625G probably benign Het
Snx6 C T 12: 54,830,259 (GRCm39) V67I possibly damaging Het
Syngr3 A G 17: 24,906,696 (GRCm39) F40L possibly damaging Het
Syt8 G A 7: 141,991,971 (GRCm39) G21R possibly damaging Het
Tagln A G 9: 45,842,138 (GRCm39) F152L probably benign Het
Tcf12 G A 9: 72,016,999 (GRCm39) T36M probably damaging Het
Tdrd6 C T 17: 43,937,442 (GRCm39) S1202N probably benign Het
Tekt2 T C 4: 126,217,529 (GRCm39) K179E probably damaging Het
Tekt4 G T 17: 25,692,785 (GRCm39) probably null Het
Tmprss5 G T 9: 49,018,464 (GRCm39) R98L probably benign Het
Tns1 G T 1: 73,955,635 (GRCm39) probably benign Het
Tpcn1 A C 5: 120,674,292 (GRCm39) probably null Het
Ttc6 T C 12: 57,741,286 (GRCm39) probably null Het
Ttf1 A G 2: 28,964,796 (GRCm39) N706S possibly damaging Het
Washc4 C T 10: 83,386,748 (GRCm39) T124I probably benign Het
Wdr17 A T 8: 55,143,159 (GRCm39) S140T probably benign Het
Wdr19 A T 5: 65,370,234 (GRCm39) I123F possibly damaging Het
Zer1 C T 2: 30,000,230 (GRCm39) A317T probably benign Het
Zfp474 A G 18: 52,771,872 (GRCm39) D175G probably damaging Het
Zfp598 T C 17: 24,900,104 (GRCm39) probably benign Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCTAGTGAACAACAGCAGGTAG -3'
(R):5'- CACCCGTTCATCAGACTGTC -3'

Sequencing Primer
(F):5'- CAGGTAGCTGGCCTCAGAAAC -3'
(R):5'- ATATTACGTGGACGATGCCC -3'
Posted On 2014-06-23