Incidental Mutation 'R7411:Set'
ID 575052
Institutional Source Beutler Lab
Gene Symbol Set
Ensembl Gene ENSMUSG00000054766
Gene Name SET nuclear oncogene
Synonyms 2610030F17Rik, StF-IT-1, 5730420M11Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.744) question?
Stock # R7411 (G1)
Quality Score 174.009
Status Not validated
Chromosome 2
Chromosomal Location 30057378-30072577 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30066885 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000070002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067996] [ENSMUST00000102866] [ENSMUST00000134364] [ENSMUST00000149578]
AlphaFold Q9EQU5
Predicted Effect probably benign
Transcript: ENSMUST00000067996
AA Change: E22G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000070002
Gene: ENSMUSG00000054766
AA Change: E22G

Pfam:NAP 29 224 6.4e-62 PFAM
low complexity region 226 277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102866
SMART Domains Protein: ENSMUSP00000099930
Gene: ENSMUSG00000054766

low complexity region 11 23 N/A INTRINSIC
Pfam:NAP 42 234 5.3e-39 PFAM
low complexity region 238 289 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134364
SMART Domains Protein: ENSMUSP00000114557
Gene: ENSMUSG00000054766

low complexity region 11 23 N/A INTRINSIC
Pfam:NAP 41 215 3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149578
SMART Domains Protein: ENSMUSP00000119824
Gene: ENSMUSG00000054766

low complexity region 11 23 N/A INTRINSIC
Pfam:NAP 41 151 1.8e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,717,241 T276I possibly damaging Het
9130011E15Rik A C 19: 45,965,435 V170G probably benign Het
Abca17 A G 17: 24,328,569 I277T possibly damaging Het
Abcb11 C T 2: 69,303,936 probably null Het
Abcc12 C A 8: 86,560,850 R122L possibly damaging Het
Abcc8 A G 7: 46,165,917 probably null Het
Adam28 C T 14: 68,626,947 R469K probably damaging Het
Adamts18 T C 8: 113,777,730 Y243C probably damaging Het
Agbl3 T C 6: 34,814,819 S619P probably damaging Het
Alpk3 A T 7: 81,092,852 T806S probably benign Het
Atoh1 T A 6: 64,729,930 I203N probably damaging Het
Cables1 A G 18: 11,840,515 E237G probably benign Het
Cacna1d A G 14: 30,352,990 M1T probably null Het
Ccdc91 C T 6: 147,592,198 Q363* probably null Het
Ceacam5 T A 7: 17,750,753 D473E probably damaging Het
Cfap54 T A 10: 92,868,755 D2821V unknown Het
Clca3a2 A G 3: 144,802,099 S737P probably damaging Het
Clec4n T A 6: 123,232,186 M70K probably benign Het
Dstyk G A 1: 132,417,666 G21S probably benign Het
Enpp5 A G 17: 44,081,475 D265G probably damaging Het
Gabrb1 T C 5: 72,122,195 probably null Het
Gm11639 T G 11: 104,999,723 N4210K probably benign Het
Gm28710 A T 5: 16,824,765 T500S possibly damaging Het
Gm5861 T A 5: 11,183,149 probably null Het
Gm9513 T C 9: 36,475,684 V16A possibly damaging Het
Guk1 A G 11: 59,185,985 F91L Het
Ints1 C T 5: 139,764,260 E961K possibly damaging Het
Irx2 T A 13: 72,629,063 M1K probably null Het
Jrk C T 15: 74,707,199 R79H possibly damaging Het
Kcnu1 G T 8: 25,892,088 V489L probably damaging Het
Kctd7 C T 5: 130,152,424 T209M probably benign Het
Kdm5a T A 6: 120,426,815 V1127E probably damaging Het
Klk6 A G 7: 43,826,943 H69R probably damaging Het
Lck T C 4: 129,551,970 K340R probably benign Het
Lrrc75a A G 11: 62,605,908 L276P probably damaging Het
Med25 A G 7: 44,878,243 W730R probably damaging Het
Muc4 T C 16: 32,751,322 V400A probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Myt1 C A 2: 181,815,106 H906Q probably damaging Het
Ncl A T 1: 86,350,842 F673I probably damaging Het
Nfe2l1 G T 11: 96,822,183 T216N probably benign Het
Nos2 G A 11: 78,944,855 probably null Het
Nphp4 T A 4: 152,554,717 I935N probably benign Het
Ntn1 G A 11: 68,386,089 A11V probably benign Het
Olfr1257 T C 2: 89,881,261 V145A probably damaging Het
Olfr1395 A T 11: 49,148,994 M246L probably benign Het
Pcdha12 A G 18: 37,021,608 Y460C probably damaging Het
Pcdha4 G T 18: 36,953,058 R98L probably benign Het
Pitpnc1 A G 11: 107,212,572 S234P probably damaging Het
Pmfbp1 A T 8: 109,513,871 Y195F probably damaging Het
Prl6a1 T C 13: 27,318,142 I164T probably damaging Het
Ptpn18 G A 1: 34,472,192 probably null Het
Rhbdl2 G A 4: 123,829,642 A280T possibly damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 probably benign Het
Sema3a T G 5: 13,516,263 Y171* probably null Het
Sirpb1b A T 3: 15,542,997 D229E probably benign Het
Slc12a2 A T 18: 57,941,013 I1096F probably benign Het
Slc30a5 T C 13: 100,818,180 I159V probably benign Het
Slc6a20b A G 9: 123,604,948 I275T probably benign Het
Stradb A C 1: 58,988,518 D69A possibly damaging Het
Supt16 A T 14: 52,178,051 V409E probably damaging Het
Tcea2 A G 2: 181,686,664 N195S probably damaging Het
Thumpd3 T C 6: 113,056,111 V270A possibly damaging Het
Urgcp T A 11: 5,718,116 H117L probably benign Het
Vps13c T A 9: 67,972,001 M3408K probably damaging Het
Wdfy4 A C 14: 33,106,131 M1078R Het
Wdr63 A G 3: 146,097,145 V97A probably damaging Het
Ypel5 G A 17: 72,846,444 probably null Het
Other mutations in Set
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02169:Set APN 2 30069524 missense possibly damaging 0.47
R1507:Set UTSW 2 30069094 missense probably damaging 0.99
R1694:Set UTSW 2 30069424 missense probably damaging 0.98
R2038:Set UTSW 2 30070200 missense probably benign 0.06
R2058:Set UTSW 2 30069036 missense possibly damaging 0.94
R4229:Set UTSW 2 30069519 missense probably damaging 1.00
R5347:Set UTSW 2 30069410 missense possibly damaging 0.76
R6147:Set UTSW 2 30066824 missense probably benign 0.44
R7792:Set UTSW 2 30070311 missense probably benign 0.38
R8135:Set UTSW 2 30069427 missense probably benign 0.14
R8154:Set UTSW 2 30069088 missense probably benign 0.14
Z1177:Set UTSW 2 30070936 missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-07