Incidental Mutation 'R4231:Setd7'
ID 320829
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 041050-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4231 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 51422740-51468300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51450151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 92 (N92D)
Ref Sequence ENSEMBL: ENSMUSP00000043492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037141]
AlphaFold Q8VHL1
Predicted Effect probably benign
Transcript: ENSMUST00000037141
AA Change: N92D

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: N92D

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 0.0785 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 99% (75/76)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 A T 12: 53,187,821 (GRCm39) D1745V probably damaging Het
Aldh5a1 C T 13: 25,095,636 (GRCm39) G494R probably damaging Het
Ankar T C 1: 72,697,701 (GRCm39) D1034G probably benign Het
Aox3 T A 1: 58,154,044 (GRCm39) N23K probably benign Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Bltp1 C T 3: 36,974,385 (GRCm39) T663I probably benign Het
Cacnb2 A G 2: 14,986,251 (GRCm39) K343E probably damaging Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cd93 A T 2: 148,284,880 (GRCm39) H155Q probably benign Het
Cox6b2 T C 7: 4,755,834 (GRCm39) M1V probably null Het
Crat T C 2: 30,303,023 (GRCm39) E88G possibly damaging Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dip2a G A 10: 76,155,304 (GRCm39) P94S probably damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Filip1l T C 16: 57,327,131 (GRCm39) S54P probably benign Het
Gm12887 A T 4: 121,479,299 (GRCm39) M1K probably null Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Insyn2b A T 11: 34,353,143 (GRCm39) E395V probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Irak2 A G 6: 113,667,817 (GRCm39) E466G probably damaging Het
Irgm2 C T 11: 58,110,304 (GRCm39) probably benign Het
Jak3 T A 8: 72,138,189 (GRCm39) V880D probably damaging Het
Jmy G T 13: 93,635,433 (GRCm39) P128T probably benign Het
Kif20a A G 18: 34,765,091 (GRCm39) N775S probably benign Het
Kremen1 G A 11: 5,193,881 (GRCm39) Q50* probably null Het
Lrrc71 A G 3: 87,648,298 (GRCm39) I438T probably benign Het
Map3k1 T C 13: 111,905,028 (GRCm39) T374A probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mta1 T C 12: 113,099,447 (GRCm39) M603T possibly damaging Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Nalcn T A 14: 123,837,325 (GRCm39) Q13L probably benign Het
Nbas A G 12: 13,443,344 (GRCm39) N1133S probably damaging Het
Nsun2 A G 13: 69,767,660 (GRCm39) N205D probably damaging Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or4f17-ps1 C T 2: 111,358,546 (GRCm39) R314C probably damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A G 1: 97,811,849 (GRCm39) probably null Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Plxna2 C T 1: 194,326,762 (GRCm39) T232I probably damaging Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Ptprq A T 10: 107,522,144 (GRCm39) Y602* probably null Het
Rfx4 A T 10: 84,650,558 (GRCm39) M84L probably benign Het
Rfx7 A T 9: 72,526,672 (GRCm39) E1287D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf216 A T 5: 143,078,845 (GRCm39) S35T probably damaging Het
Rps6kc1 A G 1: 190,541,097 (GRCm39) V402A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sart3 A G 5: 113,909,479 (GRCm39) M73T probably benign Het
Scn10a G T 9: 119,460,610 (GRCm39) T1088K probably damaging Het
Senp2 T C 16: 21,830,304 (GRCm39) probably null Het
Sipa1 A T 19: 5,704,117 (GRCm39) L735Q probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slitrk6 A T 14: 110,988,820 (GRCm39) S296T probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tex15 T C 8: 34,062,165 (GRCm39) S806P probably damaging Het
Tgm3 A T 2: 129,886,509 (GRCm39) K577* probably null Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Xpo6 T C 7: 125,773,354 (GRCm39) T24A possibly damaging Het
Zfhx2 A G 14: 55,310,991 (GRCm39) C568R possibly damaging Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* 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
R2513:Setd7 UTSW 3 51,440,436 (GRCm39) missense probably damaging 1.00
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'- TGTGAGGAGTCAGAACGCTG -3'
(R):5'- ACCTGCCGAATGTTTGCTGG -3'

Sequencing Primer
(F):5'- GAGTCAGAACGCTGTCTTAAAAC -3'
(R):5'- CAGAGGGGAGGTATGCATAGC -3'
Posted On 2015-06-12