Incidental Mutation 'R6886:Rel'
ID 536965
Institutional Source Beutler Lab
Gene Symbol Rel
Ensembl Gene ENSMUSG00000020275
Gene Name reticuloendotheliosis oncogene
Synonyms c-Rel
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6886 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 23686847-23720969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23694304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 309 (H309R)
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: H309R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: H309R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rab4b A C 7: 26,872,381 (GRCm39) L145R probably damaging Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A 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
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
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'- TTAGTTCCAACACAACCTGCAG -3'
(R):5'- AGAATCCCATGACTTACCGC -3'

Sequencing Primer
(F):5'- AGCCTAGCTGCACTCAAT -3'
(R):5'- TCTTTCTTAATCAGATGCATATGGC -3'
Posted On 2018-10-18