Incidental Mutation 'IGL01889:Rel'
ID 179205
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 # IGL01889
Quality Score
Status
Chromosome 11
Chromosomal Location 23686847-23720969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23707035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 56 (Y56H)
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: Y56H

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: Y56H

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,804,981 (GRCm39) probably benign Het
Brap G A 5: 121,798,881 (GRCm39) V18I probably benign Het
Csmd1 C T 8: 16,048,857 (GRCm39) V2282M probably damaging Het
Flnb A G 14: 7,935,967 (GRCm38) E2269G possibly damaging Het
Gaa A G 11: 119,169,123 (GRCm39) I557V probably benign Het
Gapt T A 13: 110,490,501 (GRCm39) Q54L probably benign Het
Gsdmc A T 15: 63,651,852 (GRCm39) I253N possibly damaging Het
Kcnj3 T A 2: 55,327,216 (GRCm39) S2T possibly damaging Het
Mindy2 T C 9: 70,538,444 (GRCm39) probably benign Het
Ncor1 A G 11: 62,225,427 (GRCm39) V1048A possibly damaging Het
Nlrp4d A T 7: 10,112,261 (GRCm39) V636D unknown Het
Nphs1 G T 7: 30,159,936 (GRCm39) R82S probably damaging Het
Or10a3m T A 7: 108,313,089 (GRCm39) F164L probably benign Het
Or4x6 A G 2: 89,949,309 (GRCm39) V211A possibly damaging Het
Or6z3 G A 7: 6,463,502 (GRCm39) probably benign Het
Papln T A 12: 83,833,609 (GRCm39) L1175Q probably benign Het
Rab22a T C 2: 173,530,031 (GRCm39) probably benign Het
Sdc4 A G 2: 164,273,127 (GRCm39) L61P probably damaging Het
Slc1a4 A G 11: 20,264,089 (GRCm39) probably benign Het
Ubr4 T A 4: 139,189,783 (GRCm39) C3989* probably null Het
Zfyve16 A G 13: 92,659,077 (GRCm39) V278A 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
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
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 2014-05-07