Incidental Mutation 'R1339:Rel'
ID 156964
Institutional Source Beutler Lab
Gene Symbol Rel
Ensembl Gene ENSMUSG00000020275
Gene Name reticuloendotheliosis oncogene
Synonyms c-Rel
MMRRC Submission 039404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1339 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 23686847-23720969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23695763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 208 (C208Y)
Ref Sequence ENSEMBL: ENSMUSP00000099928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102864]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000102864
AA Change: C208Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: C208Y

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 10 178 8.1e-78 PFAM
IPT 185 280 7.64e-24 SMART
low complexity region 512 530 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous inactivation of this gene causes defects in lymphocyte proliferation, humoral immunity and cytokine production, and may lead to impaired Th1 responses and resistance to autoimmune disease. Mice lacking only the COOH-terminal region show severehemopoietic defects and lymphoid hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Adamts20 A T 15: 94,220,777 (GRCm39) N1385K probably benign Het
Cplane2 A G 4: 140,945,859 (GRCm39) E134G probably damaging Het
Cyp4a32 A G 4: 115,468,760 (GRCm39) Y382C probably damaging Het
Dtnbp1 G A 13: 45,076,696 (GRCm39) S237L probably damaging Het
Foxi1 T C 11: 34,155,866 (GRCm39) T255A probably benign Het
Ifi208 A C 1: 173,510,804 (GRCm39) T320P probably damaging Het
Inhbc C A 10: 127,193,510 (GRCm39) V169L probably benign Het
Irf7 G A 7: 140,843,617 (GRCm39) R320C probably damaging Het
Marchf6 T C 15: 31,486,548 (GRCm39) T336A probably benign Het
Masp1 C A 16: 23,271,217 (GRCm39) C677F probably damaging Het
Mei1 A G 15: 81,966,196 (GRCm39) R323G possibly damaging Het
Or2a7 G C 6: 43,151,544 (GRCm39) G208A probably benign Het
Or6k8-ps1 G T 1: 173,979,777 (GRCm39) G232C probably damaging Het
Pira13 A G 7: 3,825,155 (GRCm39) Y496H probably damaging Het
Shc2 T G 10: 79,462,250 (GRCm39) T298P probably benign Het
Syne1 G A 10: 5,317,571 (GRCm39) L508F probably damaging Het
Ubn1 A G 16: 4,873,199 (GRCm39) K74E probably damaging Het
Other mutations in Rel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Rel APN 11 23,707,043 (GRCm39) missense probably benign 0.31
IGL00819:Rel APN 11 23,693,029 (GRCm39) missense probably benign 0.13
IGL00906:Rel APN 11 23,694,266 (GRCm39) missense probably benign 0.00
IGL01358:Rel APN 11 23,711,155 (GRCm39) missense probably benign 0.06
IGL01820:Rel APN 11 23,703,218 (GRCm39) missense probably benign 0.22
IGL01889:Rel APN 11 23,707,035 (GRCm39) missense probably damaging 0.96
IGL03270:Rel APN 11 23,692,584 (GRCm39) missense probably benign 0.16
Amun-ra UTSW 11 23,707,026 (GRCm39) nonsense probably null
Fleur UTSW 11 0 () unclassified
giza UTSW 11 23,707,010 (GRCm39) missense probably damaging 1.00
Horus UTSW 11 23,703,215 (GRCm39) critical splice donor site probably null
osirus UTSW 11 23,692,713 (GRCm39) missense probably benign 0.00
Seth UTSW 11 23,698,855 (GRCm39) missense probably damaging 1.00
R0766:Rel UTSW 11 23,707,010 (GRCm39) missense probably damaging 1.00
R0924:Rel UTSW 11 23,692,439 (GRCm39) missense probably benign 0.02
R0930:Rel UTSW 11 23,692,439 (GRCm39) missense probably benign 0.02
R1312:Rel UTSW 11 23,707,010 (GRCm39) missense probably damaging 1.00
R1584:Rel UTSW 11 23,695,546 (GRCm39) missense probably damaging 1.00
R1980:Rel UTSW 11 23,692,761 (GRCm39) missense probably benign
R1981:Rel UTSW 11 23,692,761 (GRCm39) missense probably benign
R1982:Rel UTSW 11 23,692,761 (GRCm39) missense probably benign
R2513:Rel UTSW 11 23,695,823 (GRCm39) missense probably damaging 1.00
R2870:Rel UTSW 11 23,711,129 (GRCm39) missense probably benign
R2870:Rel UTSW 11 23,711,129 (GRCm39) missense probably benign
R2871:Rel UTSW 11 23,711,129 (GRCm39) missense probably benign
R2871:Rel UTSW 11 23,711,129 (GRCm39) missense probably benign
R2872:Rel UTSW 11 23,711,129 (GRCm39) missense probably benign
R2872:Rel UTSW 11 23,711,129 (GRCm39) missense probably benign
R3617:Rel UTSW 11 23,695,780 (GRCm39) missense probably damaging 1.00
R3976:Rel UTSW 11 23,692,939 (GRCm39) missense probably benign 0.07
R4010:Rel UTSW 11 23,711,138 (GRCm39) missense probably benign
R4067:Rel UTSW 11 23,703,215 (GRCm39) critical splice donor site probably null
R5345:Rel UTSW 11 23,692,462 (GRCm39) missense probably benign 0.00
R5866:Rel UTSW 11 23,692,724 (GRCm39) nonsense probably null
R6032:Rel UTSW 11 23,692,684 (GRCm39) missense probably benign 0.02
R6032:Rel UTSW 11 23,692,684 (GRCm39) missense probably benign 0.02
R6562:Rel UTSW 11 23,707,026 (GRCm39) nonsense probably null
R6886:Rel UTSW 11 23,694,304 (GRCm39) missense probably benign 0.03
R7516:Rel UTSW 11 23,692,785 (GRCm39) missense probably benign 0.00
R7522:Rel UTSW 11 23,720,676 (GRCm39) splice site probably null
R7663:Rel UTSW 11 23,692,713 (GRCm39) missense probably benign 0.00
R7873:Rel UTSW 11 23,692,957 (GRCm39) missense probably benign 0.00
R7960:Rel UTSW 11 23,694,493 (GRCm39) missense probably damaging 0.98
R8679:Rel UTSW 11 23,692,430 (GRCm39) missense probably benign
R8819:Rel UTSW 11 23,695,626 (GRCm39) missense probably damaging 1.00
R9001:Rel UTSW 11 23,698,855 (GRCm39) missense probably damaging 1.00
R9215:Rel UTSW 11 23,698,870 (GRCm39) missense probably benign 0.00
Z1176:Rel UTSW 11 23,695,472 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- acacaTTACTCCCAACTTGCCATACC -3'
(R):5'- TCCTGAAATTCTTCCCCTTGTACTtgtact -3'

Sequencing Primer
(F):5'- TGTCACAGGCTCCAGTATAGC -3'
(R):5'- TAAGGATCTGCCGTGTGAAC -3'
Posted On 2014-02-11