Incidental Mutation 'R7516:Rel'
ID 582476
Institutional Source Beutler Lab
Gene Symbol Rel
Ensembl Gene ENSMUSG00000020275
Gene Name reticuloendotheliosis oncogene
Synonyms c-Rel
MMRRC Submission 045589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 23686847-23720969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23692785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 416 (I416T)
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: I416T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: I416T

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T A 14: 68,868,125 (GRCm39) I407F probably damaging Het
Agbl1 A G 7: 76,075,669 (GRCm39) Y437C probably damaging Het
Alkbh5 T C 11: 60,429,979 (GRCm39) V244A probably damaging Het
Arap1 T C 7: 101,058,538 (GRCm39) F1390L probably benign Het
Asph T C 4: 9,630,940 (GRCm39) D136G possibly damaging Het
Atp8a2 A T 14: 60,094,516 (GRCm39) Y841N probably damaging Het
Cald1 A T 6: 34,686,492 (GRCm39) probably benign Het
Capn11 A G 17: 45,949,766 (GRCm39) I400T possibly damaging Het
Cdh18 T A 15: 23,259,684 (GRCm39) probably null Het
Ces2h T A 8: 105,743,458 (GRCm39) L204Q probably damaging Het
Chrna3 G A 9: 54,922,653 (GRCm39) A385V probably benign Het
Clca4a A T 3: 144,672,009 (GRCm39) L311Q probably damaging Het
Clip1 A G 5: 123,721,448 (GRCm39) V1149A probably benign Het
Clip3 T A 7: 29,998,268 (GRCm39) V238D possibly damaging Het
Col12a1 A G 9: 79,520,192 (GRCm39) probably null Het
Coro2a A G 4: 46,562,992 (GRCm39) V54A probably benign Het
Crem T C 18: 3,299,141 (GRCm39) probably null Het
Dennd5b T C 6: 148,969,878 (GRCm39) I192V probably benign Het
Dst A G 1: 34,209,560 (GRCm39) N1209S probably benign Het
Ero1a T A 14: 45,525,480 (GRCm39) M385L probably benign Het
Fam13a A T 6: 58,932,248 (GRCm39) V375D probably damaging Het
Fgfbp3 T A 19: 36,896,324 (GRCm39) Y98F possibly damaging Het
Frem3 T C 8: 81,338,712 (GRCm39) V335A probably damaging Het
Gm19410 T A 8: 36,263,433 (GRCm39) D951E probably benign Het
Gpatch1 T C 7: 35,007,625 (GRCm39) D145G probably benign Het
H60c G T 10: 3,209,746 (GRCm39) C180* probably null Het
Hmcn1 T C 1: 150,498,718 (GRCm39) T4054A probably benign Het
Hrg A G 16: 22,780,048 (GRCm39) Y442C unknown Het
Hspg2 C T 4: 137,269,931 (GRCm39) R2327C possibly damaging Het
Klhl31 G T 9: 77,558,429 (GRCm39) A382S probably damaging Het
Knl1 T C 2: 118,901,179 (GRCm39) V960A probably damaging Het
Lztr1 C T 16: 17,327,525 (GRCm39) A76V possibly damaging Het
Me3 G T 7: 89,497,183 (GRCm39) E395* probably null Het
Morc2b G A 17: 33,356,435 (GRCm39) H446Y probably benign Het
Mroh7 A T 4: 106,548,316 (GRCm39) M1054K probably benign Het
Ms4a6b T C 19: 11,506,907 (GRCm39) V232A probably benign Het
Nmt2 C A 2: 3,313,767 (GRCm39) D224E probably damaging Het
Nox4 C A 7: 86,970,905 (GRCm39) R261S probably benign Het
Obscn T A 11: 59,015,416 (GRCm39) K1019* probably null Het
Or4a15 T A 2: 89,193,719 (GRCm39) N18I probably benign Het
Or4g7 T A 2: 111,309,282 (GRCm39) V51D probably benign Het
Or5p67 G A 7: 107,922,223 (GRCm39) S220F probably damaging Het
Or8k24 C T 2: 86,216,328 (GRCm39) V145I probably benign Het
Pcdha11 A T 18: 37,144,671 (GRCm39) N254I probably damaging Het
Pck2 T A 14: 55,779,913 (GRCm39) I54N probably benign Het
Pkd1l3 T A 8: 110,361,861 (GRCm39) W978R probably damaging Het
Plxna4 T C 6: 32,214,703 (GRCm39) T593A probably benign Het
Podn G A 4: 107,879,321 (GRCm39) R266W probably damaging Het
Ptpn22 A G 3: 103,792,854 (GRCm39) D335G probably benign Het
Pxn A G 5: 115,644,922 (GRCm39) D3G unknown Het
Rapgefl1 T G 11: 98,736,960 (GRCm39) V320G probably benign Het
Sema5b A G 16: 35,471,540 (GRCm39) N378D probably benign Het
Sh3bp4 C A 1: 89,073,368 (GRCm39) L739M probably damaging Het
Skint2 A T 4: 112,483,168 (GRCm39) D191V probably damaging Het
Slc3a1 T C 17: 85,371,190 (GRCm39) Y581H probably damaging Het
Smcr8 G T 11: 60,670,814 (GRCm39) C654F probably benign Het
Spta1 A C 1: 174,025,349 (GRCm39) Q738P probably damaging Het
Sptlc3 C A 2: 139,431,438 (GRCm39) A320D probably benign Het
Thnsl2 T A 6: 71,108,990 (GRCm39) K274* probably null Het
Tmed2 T A 5: 124,685,055 (GRCm39) I68K possibly damaging Het
Tmtc4 G A 14: 123,180,735 (GRCm39) A326V possibly damaging Het
Tnks2 T A 19: 36,849,064 (GRCm39) S179T possibly damaging Het
Trim34b G T 7: 103,978,918 (GRCm39) C55F probably damaging Het
Trpm4 T A 7: 44,954,444 (GRCm39) E1129V probably damaging Het
Tvp23b T C 11: 62,782,867 (GRCm39) S188P possibly damaging Het
Usp1 A G 4: 98,822,356 (GRCm39) T557A probably damaging Het
Vmn2r66 C T 7: 84,661,176 (GRCm39) C18Y possibly damaging Het
Vmn2r85 T A 10: 130,254,852 (GRCm39) T611S probably damaging Het
Vps13c T C 9: 67,862,289 (GRCm39) S2969P possibly damaging Het
Wdr74 T A 19: 8,713,554 (GRCm39) C62* probably null Het
Wfikkn1 A T 17: 26,097,020 (GRCm39) C435S probably damaging Het
Zbtb45 A T 7: 12,740,269 (GRCm39) F449I 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
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
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'- ATTGATGCTCACAAGTCTTGGG -3'
(R):5'- ACTATTCTTCATGCGGGTCC -3'

Sequencing Primer
(F):5'- ATCAGTGCTGGGTGCCATC -3'
(R):5'- GTCCATCTCGAGTGGATTGCC -3'
Posted On 2019-10-17