Incidental Mutation 'IGL03270:Rel'
ID 415228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rel
Ensembl Gene ENSMUSG00000020275
Gene Name reticuloendotheliosis oncogene
Synonyms c-Rel
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03270
Quality Score
Status
Chromosome 11
Chromosomal Location 23686847-23720969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23692584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 483 (N483S)
Ref Sequence ENSEMBL: ENSMUSP00000099928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102864]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000102864
AA Change: N483S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: N483S

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
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,440,071 (GRCm39) probably null Het
Fcmr A T 1: 130,803,779 (GRCm39) R194S possibly damaging Het
Fmo2 A G 1: 162,709,595 (GRCm39) F264S probably damaging Het
Gfra2 A G 14: 71,163,344 (GRCm39) D209G possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c A G 18: 60,378,548 (GRCm39) K28E probably benign Het
Kifap3 T A 1: 163,676,302 (GRCm39) M419K probably benign Het
Lgr6 A C 1: 134,925,442 (GRCm39) I133S probably damaging Het
Med13l A C 5: 118,869,495 (GRCm39) N811T probably damaging Het
Or4c118 A G 2: 88,975,089 (GRCm39) F93L probably damaging Het
Or6k2 T A 1: 173,987,119 (GRCm39) M260K probably benign Het
Pappa2 T A 1: 158,592,637 (GRCm39) D1580V possibly damaging Het
Ppp4r2 T G 6: 100,840,086 (GRCm39) N72K probably damaging Het
Prr27 T C 5: 87,983,537 (GRCm39) probably benign Het
Rad51d A G 11: 82,772,420 (GRCm39) probably benign Het
Scn9a A G 2: 66,314,358 (GRCm39) F1776L probably damaging Het
Slco5a1 G A 1: 12,942,252 (GRCm39) T798I probably benign Het
Ttn T C 2: 76,606,811 (GRCm39) D18033G probably damaging Het
Vmn1r46 T A 6: 89,953,756 (GRCm39) S202T probably damaging Het
Vmn2r110 T G 17: 20,803,778 (GRCm39) M266L probably benign Het
Vmn2r26 A T 6: 124,027,778 (GRCm39) D506V probably benign Het
Zbtb1 T C 12: 76,432,289 (GRCm39) S92P possibly 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
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
R1339:Rel UTSW 11 23,695,763 (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
Posted On 2016-08-02