Incidental Mutation 'R2038:Set'
ID 225265
Institutional Source Beutler Lab
Gene Symbol Set
Ensembl Gene ENSMUSG00000054766
Gene Name SET nuclear oncogene
Synonyms 5730420M11Rik, 2610030F17Rik, StF-IT-1
MMRRC Submission 040045-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R2038 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 29952074-29962589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29960212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 182 (S182P)
Ref Sequence ENSEMBL: ENSMUSP00000099930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067996] [ENSMUST00000102866] [ENSMUST00000134364] [ENSMUST00000149578]
AlphaFold Q9EQU5
Predicted Effect probably benign
Transcript: ENSMUST00000067996
AA Change: S170P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000070002
Gene: ENSMUSG00000054766
AA Change: S170P

DomainStartEndE-ValueType
Pfam:NAP 29 224 6.4e-62 PFAM
low complexity region 226 277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102866
AA Change: S182P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099930
Gene: ENSMUSG00000054766
AA Change: S182P

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 noncoding transcript
Transcript: ENSMUST00000125824
Predicted Effect probably benign
Transcript: ENSMUST00000134364
AA Change: S182P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114557
Gene: ENSMUSG00000054766
AA Change: S182P

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
Pfam:NAP 41 215 3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147590
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,389,762 (GRCm39) Y54C probably damaging Het
Adgrf4 A T 17: 42,978,754 (GRCm39) H196Q probably damaging Het
Astn1 T G 1: 158,484,690 (GRCm39) S918A probably benign Het
Cd79a A T 7: 24,598,782 (GRCm39) K110N probably benign Het
Cdc34b C T 11: 94,633,114 (GRCm39) Q105* probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Clpx G A 9: 65,224,775 (GRCm39) G168R probably damaging Het
Col8a2 T C 4: 126,205,108 (GRCm39) probably benign Het
Ddx27 G A 2: 166,875,675 (GRCm39) E669K probably damaging Het
Dnah8 A T 17: 30,977,255 (GRCm39) I2898F probably damaging Het
Dus2 T C 8: 106,775,294 (GRCm39) Y274H probably damaging Het
Dync2h1 A G 9: 6,967,226 (GRCm39) S4073P probably damaging Het
Dynlrb2 G A 8: 117,241,549 (GRCm39) R31Q possibly damaging Het
Esyt1 C T 10: 128,347,820 (GRCm39) V957I probably benign Het
Fhdc1 A T 3: 84,351,868 (GRCm39) L1119Q probably benign Het
H2-T10 T C 17: 36,430,317 (GRCm39) K212E probably benign Het
H60b A T 10: 22,162,114 (GRCm39) N113I probably benign Het
Hace1 A C 10: 45,576,721 (GRCm39) K798Q probably benign Het
Hdac7 C T 15: 97,696,151 (GRCm39) R631H probably damaging Het
Kat7 T A 11: 95,190,928 (GRCm39) I153F probably benign Het
Lman1 T C 18: 66,131,681 (GRCm39) T101A probably benign Het
Mapk8 A T 14: 33,110,893 (GRCm39) C245* probably null Het
Mfhas1 T A 8: 36,058,431 (GRCm39) W969R probably damaging Het
Mlxipl A T 5: 135,135,853 (GRCm39) D26V probably damaging Het
Msh5 A G 17: 35,265,016 (GRCm39) V53A probably benign Het
Msl2 C A 9: 100,979,183 (GRCm39) A519D probably damaging Het
Nbeal1 A G 1: 60,245,503 (GRCm39) S176G probably benign Het
Ninl T A 2: 150,817,763 (GRCm39) K134* probably null Het
Or10d1 A G 9: 39,484,283 (GRCm39) S91P probably damaging Het
Or1e25 T A 11: 73,494,239 (GRCm39) Y278N probably damaging Het
Or4a68 C A 2: 89,269,689 (GRCm39) M311I probably benign Het
Pabpn1 T G 14: 55,134,609 (GRCm39) I250S probably damaging Het
Ppp4r4 G A 12: 103,542,539 (GRCm39) probably null Het
Rad51ap2 T C 12: 11,507,025 (GRCm39) S316P possibly damaging Het
Scn7a C A 2: 66,567,780 (GRCm39) W271C probably damaging Het
Sez6l T C 5: 112,620,618 (GRCm39) T321A possibly damaging Het
Sfpq A T 4: 126,915,295 (GRCm39) H29L unknown Het
Slc33a1 A G 3: 63,855,577 (GRCm39) L356P probably damaging Het
Sptbn1 C G 11: 30,109,293 (GRCm39) probably null Het
Srrd C T 5: 112,486,316 (GRCm39) G179D probably benign Het
Taf4b T C 18: 14,940,456 (GRCm39) S312P probably damaging Het
Tgfbrap1 A T 1: 43,093,794 (GRCm39) L566* probably null Het
Tln2 T A 9: 67,304,935 (GRCm39) M1L probably benign Het
Ttc27 T C 17: 75,163,497 (GRCm39) F702L probably benign Het
Vmn2r54 C T 7: 12,363,637 (GRCm39) G419R possibly damaging Het
Vps13b A G 15: 35,884,887 (GRCm39) S3187G probably damaging Het
Vps13d C A 4: 144,907,685 (GRCm39) probably null Het
Vps35l T C 7: 118,411,097 (GRCm39) F677L probably damaging Het
Zfp568 A T 7: 29,688,507 (GRCm39) E23V 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
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
R7411:Set UTSW 2 29,956,897 (GRCm39) missense probably benign 0.00
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'- TCAGACAGTTGATAGGTGTATCC -3'
(R):5'- AGGCAATGTTCTTTTAGGGACTC -3'

Sequencing Primer
(F):5'- AGGTGTATCCTATGAAAGCAATTTAC -3'
(R):5'- GGGACTCATTCATTCTATTGGACAC -3'
Posted On 2014-08-25