Incidental Mutation 'R7411:Set'
ID 575052
Institutional Source Beutler Lab
Gene Symbol Set
Ensembl Gene ENSMUSG00000054766
Gene Name SET nuclear oncogene
Synonyms 5730420M11Rik, 2610030F17Rik, StF-IT-1
MMRRC Submission 045492-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R7411 (G1)
Quality Score 174.009
Status Not validated
Chromosome 2
Chromosomal Location 29952074-29962589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29956897 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 3,767,241 (GRCm39) T276I possibly damaging Het
Abca17 A G 17: 24,547,543 (GRCm39) I277T possibly damaging Het
Abcb11 C T 2: 69,134,280 (GRCm39) probably null Het
Abcc12 C A 8: 87,287,479 (GRCm39) R122L possibly damaging Het
Abcc8 A G 7: 45,815,341 (GRCm39) probably null Het
Adam28 C T 14: 68,864,396 (GRCm39) R469K probably damaging Het
Adamts18 T C 8: 114,504,362 (GRCm39) Y243C probably damaging Het
Agbl3 T C 6: 34,791,754 (GRCm39) S619P probably damaging Het
Alpk3 A T 7: 80,742,600 (GRCm39) T806S probably benign Het
Armh3 A C 19: 45,953,874 (GRCm39) V170G probably benign Het
Atoh1 T A 6: 64,706,914 (GRCm39) I203N probably damaging Het
Cables1 A G 18: 11,973,572 (GRCm39) E237G probably benign Het
Cacna1d A G 14: 30,074,947 (GRCm39) M1T probably null Het
Ccdc91 C T 6: 147,493,696 (GRCm39) Q363* probably null Het
Cdhr17 A T 5: 17,029,763 (GRCm39) T500S possibly damaging Het
Ceacam5 T A 7: 17,484,678 (GRCm39) D473E probably damaging Het
Cfap54 T A 10: 92,704,617 (GRCm39) D2821V unknown Het
Clca3a2 A G 3: 144,507,860 (GRCm39) S737P probably damaging Het
Clec4n T A 6: 123,209,145 (GRCm39) M70K probably benign Het
Dnai3 A G 3: 145,802,900 (GRCm39) V97A probably damaging Het
Dstyk G A 1: 132,345,404 (GRCm39) G21S probably benign Het
Efcab3 T G 11: 104,890,549 (GRCm39) N4210K probably benign Het
Enpp5 A G 17: 44,392,366 (GRCm39) D265G probably damaging Het
Gabrb1 T C 5: 72,279,538 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Guk1 A G 11: 59,076,811 (GRCm39) F91L Het
Ints1 C T 5: 139,750,015 (GRCm39) E961K possibly damaging Het
Irx2 T A 13: 72,777,182 (GRCm39) M1K probably null Het
Jrk C T 15: 74,579,048 (GRCm39) R79H possibly damaging Het
Kcnu1 G T 8: 26,382,116 (GRCm39) V489L probably damaging Het
Kctd7 C T 5: 130,181,265 (GRCm39) T209M probably benign Het
Kdm5a T A 6: 120,403,776 (GRCm39) V1127E probably damaging Het
Klk6 A G 7: 43,476,367 (GRCm39) H69R probably damaging Het
Lck T C 4: 129,445,763 (GRCm39) K340R probably benign Het
Lrrc75a A G 11: 62,496,734 (GRCm39) L276P probably damaging Het
Med25 A G 7: 44,527,667 (GRCm39) W730R probably damaging Het
Muc4 T C 16: 32,570,140 (GRCm39) V400A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Myt1 C A 2: 181,456,899 (GRCm39) H906Q probably damaging Het
Ncl A T 1: 86,278,564 (GRCm39) F673I probably damaging Het
Nfe2l1 G T 11: 96,713,009 (GRCm39) T216N probably benign Het
Nos2 G A 11: 78,835,681 (GRCm39) probably null Het
Nphp4 T A 4: 152,639,174 (GRCm39) I935N probably benign Het
Ntn1 G A 11: 68,276,915 (GRCm39) A11V probably benign Het
Or2t26 A T 11: 49,039,821 (GRCm39) M246L probably benign Het
Or4c10b T C 2: 89,711,605 (GRCm39) V145A probably damaging Het
Pate11 T C 9: 36,386,980 (GRCm39) V16A possibly damaging Het
Pcdha12 A G 18: 37,154,661 (GRCm39) Y460C probably damaging Het
Pcdha4 G T 18: 37,086,111 (GRCm39) R98L probably benign Het
Pitpnc1 A G 11: 107,103,398 (GRCm39) S234P probably damaging Het
Pmfbp1 A T 8: 110,240,503 (GRCm39) Y195F probably damaging Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Ptpn18 G A 1: 34,511,273 (GRCm39) probably null Het
Rhbdl2 G A 4: 123,723,435 (GRCm39) A280T possibly damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Sema3a T G 5: 13,566,230 (GRCm39) Y171* probably null Het
Sirpb1b A T 3: 15,608,057 (GRCm39) D229E probably benign Het
Slc12a2 A T 18: 58,074,085 (GRCm39) I1096F probably benign Het
Slc30a5 T C 13: 100,954,688 (GRCm39) I159V probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slc6a20b A G 9: 123,434,013 (GRCm39) I275T probably benign Het
Speer1e T A 5: 11,233,116 (GRCm39) probably null Het
Stradb A C 1: 59,027,677 (GRCm39) D69A possibly damaging Het
Supt16 A T 14: 52,415,508 (GRCm39) V409E probably damaging Het
Tcea2 A G 2: 181,328,457 (GRCm39) N195S probably damaging Het
Thumpd3 T C 6: 113,033,072 (GRCm39) V270A possibly damaging Het
Urgcp T A 11: 5,668,116 (GRCm39) H117L probably benign Het
Vps13c T A 9: 67,879,283 (GRCm39) M3408K probably damaging Het
Wdfy4 A C 14: 32,828,088 (GRCm39) M1078R Het
Ypel5 G A 17: 73,153,439 (GRCm39) probably null Het
Other mutations in Set
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02169:Set APN 2 29,959,536 (GRCm39) missense possibly damaging 0.47
R1507:Set UTSW 2 29,959,106 (GRCm39) missense probably damaging 0.99
R1694:Set UTSW 2 29,959,436 (GRCm39) missense probably damaging 0.98
R2038:Set UTSW 2 29,960,212 (GRCm39) missense probably benign 0.06
R2058:Set UTSW 2 29,959,048 (GRCm39) missense possibly damaging 0.94
R4229:Set UTSW 2 29,959,531 (GRCm39) missense probably damaging 1.00
R5347:Set UTSW 2 29,959,422 (GRCm39) missense possibly damaging 0.76
R6147:Set UTSW 2 29,956,836 (GRCm39) missense probably benign 0.44
R7792:Set UTSW 2 29,960,323 (GRCm39) missense probably benign 0.38
R8135:Set UTSW 2 29,959,439 (GRCm39) missense probably benign 0.14
R8154:Set UTSW 2 29,959,100 (GRCm39) missense probably benign 0.14
Z1177:Set UTSW 2 29,960,948 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GACCATGCGTCGCTGAGC -3'
(R):5'- CGGAGCACAATAAAGAGAGGCTTC -3'

Sequencing Primer
(F):5'- CTCAGGGCAATCCAGAAGCG -3'
(R):5'- AGAGGCTTCTCGGGAGG -3'
Posted On 2019-10-07