Incidental Mutation 'R2513:Setd7'
ID 253560
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 040419-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2513 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 51422740-51468300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51440436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 202 (S202P)
Ref Sequence ENSEMBL: ENSMUSP00000043492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037141]
AlphaFold Q8VHL1
Predicted Effect probably damaging
Transcript: ENSMUST00000037141
AA Change: S202P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: S202P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,809 (GRCm39) T719A possibly damaging Het
Abcc1 A G 16: 14,290,873 (GRCm39) probably null Het
Aftph C T 11: 20,658,676 (GRCm39) probably null Het
Als2 C A 1: 59,254,276 (GRCm39) K360N probably benign Het
Atg2a T A 19: 6,308,076 (GRCm39) probably null Het
Axl T C 7: 25,486,941 (GRCm39) D22G probably benign Het
Baiap2 G A 11: 119,890,052 (GRCm39) A438T probably benign Het
Bean1 G C 8: 104,908,643 (GRCm39) A7P probably benign Het
Birc6 C G 17: 74,954,724 (GRCm39) P3431R probably damaging Het
Camk1d A G 2: 5,719,047 (GRCm39) M1T probably null Het
Carmil3 T C 14: 55,741,295 (GRCm39) Y1027H probably damaging Het
Ccdc6 G A 10: 70,023,658 (GRCm39) probably benign Het
Cemip C A 7: 83,591,233 (GRCm39) V1280L probably benign Het
Cfap58 C A 19: 47,950,981 (GRCm39) N447K probably benign Het
Chd3 A G 11: 69,251,471 (GRCm39) L520P probably damaging Het
Col1a2 T A 6: 4,531,223 (GRCm39) probably null Het
Cpne7 A C 8: 123,844,406 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,723 (GRCm39) V84A probably damaging Het
Dap3 A G 3: 88,835,565 (GRCm39) V263A probably benign Het
Dhx57 T A 17: 80,549,378 (GRCm39) probably null Het
Dlg5 C A 14: 24,214,593 (GRCm39) K663N probably damaging Het
Dsg3 C A 18: 20,656,719 (GRCm39) F196L possibly damaging Het
Eif2ak4 C A 2: 118,257,064 (GRCm39) D402E probably damaging Het
Fance T C 17: 28,537,068 (GRCm39) V24A probably benign Het
Fasn A T 11: 120,705,574 (GRCm39) L1149Q probably damaging Het
Fcgbpl1 C G 7: 27,831,060 (GRCm39) S91C probably damaging Het
Flg T A 3: 93,187,093 (GRCm39) S182T possibly damaging Het
Gm128 T A 3: 95,147,293 (GRCm39) S334C possibly damaging Het
Gm3727 A C 14: 7,264,561 (GRCm38) H31Q probably damaging Het
Gm4841 T G 18: 60,403,977 (GRCm39) T39P probably damaging Het
Golgb1 G T 16: 36,735,513 (GRCm39) V1587L possibly damaging Het
Golm1 G A 13: 59,790,072 (GRCm39) P243S probably benign Het
Gstcd C A 3: 132,788,081 (GRCm39) A206S possibly damaging Het
Gstcd C A 3: 132,788,082 (GRCm39) K205N possibly damaging Het
Gtf3c1 A G 7: 125,280,345 (GRCm39) V355A probably benign Het
Hhatl T C 9: 121,618,236 (GRCm39) D173G probably benign Het
Kcnu1 T A 8: 26,395,994 (GRCm39) C660S probably benign Het
Kctd8 T C 5: 69,267,988 (GRCm39) D374G probably benign Het
Kif21a T C 15: 90,878,594 (GRCm39) I229V possibly damaging Het
L3mbtl1 A T 2: 162,809,505 (GRCm39) I702F probably benign Het
Lce1d T C 3: 92,593,066 (GRCm39) probably benign Het
Lrig1 C T 6: 94,594,347 (GRCm39) probably null Het
Lrp12 A T 15: 39,739,507 (GRCm39) D563E probably damaging Het
Lrp2 C T 2: 69,336,718 (GRCm39) probably null Het
Map3k5 G A 10: 19,970,201 (GRCm39) V703I possibly damaging Het
Mecr A G 4: 131,581,076 (GRCm39) R110G probably benign Het
Mtrr T A 13: 68,715,092 (GRCm39) K445* probably null Het
Nanos1 T A 19: 60,744,990 (GRCm39) L96Q probably benign Het
Or13a24 T G 7: 140,154,069 (GRCm39) M1R probably null Het
Or51t4 T A 7: 102,598,700 (GRCm39) F333I probably benign Het
Or6c214 T A 10: 129,591,021 (GRCm39) L99F probably damaging Het
Otog T C 7: 45,955,014 (GRCm39) probably null Het
Pcdhb3 G T 18: 37,434,294 (GRCm39) V87F probably benign Het
Pcdhb3 T A 18: 37,434,292 (GRCm39) L86* probably null Het
Pcdhb3 A T 18: 37,434,293 (GRCm39) L86F probably damaging Het
Pdgfd A G 9: 6,359,894 (GRCm39) K322E probably damaging Het
Picalm T C 7: 89,846,217 (GRCm39) S648P probably damaging Het
Pigr T C 1: 130,774,357 (GRCm39) S446P possibly damaging Het
Pik3cb A C 9: 98,943,895 (GRCm39) L636W probably damaging Het
Pla2g2f A T 4: 138,481,473 (GRCm39) L92Q probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prkar2b C T 12: 32,025,928 (GRCm39) V191I possibly damaging Het
Prune1 C A 3: 95,165,430 (GRCm39) A281S probably benign Het
Ptges3l A T 11: 101,314,868 (GRCm39) C42S possibly damaging Het
Reg3b A T 6: 78,348,802 (GRCm39) I33L probably benign Het
Rel A G 11: 23,695,823 (GRCm39) I188T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor1 G T 8: 106,344,254 (GRCm39) V463L probably benign Het
Rrm1 T A 7: 102,109,896 (GRCm39) D510E probably damaging Het
Shank3 T A 15: 89,432,889 (GRCm39) D1211E probably benign Het
Slc30a1 A T 1: 191,639,674 (GRCm39) T186S possibly damaging Het
Slc4a4 G A 5: 89,304,257 (GRCm39) V523I probably benign Het
Slc9a2 T A 1: 40,781,768 (GRCm39) probably null Het
Smg6 A G 11: 74,820,502 (GRCm39) T258A probably damaging Het
Sptlc1 C T 13: 53,491,676 (GRCm39) D408N possibly damaging Het
Tasor2 G T 13: 3,632,150 (GRCm39) L784I possibly damaging Het
Tbl3 T C 17: 24,923,524 (GRCm39) probably null Het
Tdo2 T C 3: 81,876,812 (GRCm39) D139G possibly damaging Het
Ticam1 T A 17: 56,578,612 (GRCm39) H161L possibly damaging Het
Tnfaip3 T A 10: 18,881,407 (GRCm39) D293V probably benign Het
Trim72 G A 7: 127,603,878 (GRCm39) V75M possibly damaging Het
Trip11 T A 12: 101,803,986 (GRCm39) N1632I possibly damaging Het
Tspan18 A T 2: 93,050,440 (GRCm39) M61K possibly damaging Het
Tuba8 A T 6: 121,202,932 (GRCm39) E415V probably damaging Het
Ung A G 5: 114,275,253 (GRCm39) H214R probably benign Het
Uqcrc1 T C 9: 108,765,836 (GRCm39) L17P probably damaging Het
Usp24 A G 4: 106,236,602 (GRCm39) probably null Het
Vps39 A C 2: 120,169,268 (GRCm39) Y245D probably damaging Het
Whrn T A 4: 63,353,649 (GRCm39) T373S probably benign Het
Zc2hc1a C T 3: 7,581,596 (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
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
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'- ACTGGTCTTCCTCAGGATACCC -3'
(R):5'- ATGGGCAGAGGTCGACTTAG -3'

Sequencing Primer
(F):5'- CCTTACTTGGAAGATGTGCCAAG -3'
(R):5'- CAGAGGTCGACTTAGCTATTCTAG -3'
Posted On 2014-12-04