Incidental Mutation 'R7648:Relb'
ID 590638
Institutional Source Beutler Lab
Gene Symbol Relb
Ensembl Gene ENSMUSG00000002983
Gene Name avian reticuloendotheliosis viral (v-rel) oncogene related B
Synonyms shep
MMRRC Submission 045726-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R7648 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19340142-19363352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19353767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 37 (E37G)
Ref Sequence ENSEMBL: ENSMUSP00000092355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000141586] [ENSMUST00000153309] [ENSMUST00000208087]
AlphaFold Q04863
PDB Structure NF-kB RelB forms an intertwined homodimer [X-RAY DIFFRACTION]
NF-kB RelB forms an intertwined homodimer, Y300S mutant [X-RAY DIFFRACTION]
X-RAY STRUCTURE OF A NF-KB P50-RELB-DNA COMPLEX [X-RAY DIFFRACTION]
X-ray structure of a NF-kB p52/RelB/DNA complex [X-RAY DIFFRACTION]
Crystal structure of a mutant RelB dimerization domain [X-RAY DIFFRACTION]
Crystal structure of a mutant of RelB dimerization domain(M5) [X-RAY DIFFRACTION]
Crystal structure of a mutant of RelB dimerization domain(M6) [X-RAY DIFFRACTION]
Crystal structure of the dimerization domains p50 and RelB [X-RAY DIFFRACTION]
Crystal structure of the dimerization domains p52 and RelB [X-RAY DIFFRACTION]
Crystal structure of RelB double mutants: Y300F/I335V [X-RAY DIFFRACTION]
>> 1 additional structures at PDB <<
Predicted Effect possibly damaging
Transcript: ENSMUST00000049912
AA Change: E34G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: E34G

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 73 82 N/A INTRINSIC
Pfam:RHD 102 270 1.3e-65 PFAM
IPT 277 373 1.26e-24 SMART
low complexity region 449 464 N/A INTRINSIC
low complexity region 478 506 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000094762
AA Change: E37G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: E37G

DomainStartEndE-ValueType
Pfam:RelB_leu_zip 1 84 1.2e-43 PFAM
Pfam:RHD_DNA_bind 105 273 3.7e-66 PFAM
IPT 280 376 1.26e-24 SMART
Pfam:RelB_transactiv 381 558 3.2e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098754
AA Change: E37G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: E37G

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 76 85 N/A INTRINSIC
Pfam:RHD 105 273 3.7e-66 PFAM
IPT 280 376 1.26e-24 SMART
low complexity region 452 467 N/A INTRINSIC
low complexity region 481 509 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141586
Predicted Effect probably benign
Transcript: ENSMUST00000153309
Predicted Effect possibly damaging
Transcript: ENSMUST00000208087
AA Change: E37G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Mutant homozygotes die prematurely with phenotypes including inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, epidermal hyperplasia, or hepatitiswith mononuclear infiltration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,261,886 (GRCm39) V46A possibly damaging Het
Asb13 C A 13: 3,699,332 (GRCm39) N177K probably damaging Het
Asprv1 A G 6: 86,605,852 (GRCm39) T233A probably damaging Het
Atad2b T A 12: 5,077,182 (GRCm39) probably null Het
Atxn2 G T 5: 121,934,440 (GRCm39) V880F probably damaging Het
Car14 T C 3: 95,805,507 (GRCm39) N322S probably benign Het
Cdc42bpb T C 12: 111,343,587 (GRCm39) E40G probably damaging Het
Ceacam16 G T 7: 19,586,203 (GRCm39) A103E unknown Het
Cnnm2 A G 19: 46,866,339 (GRCm39) D829G probably damaging Het
Cpt1b C T 15: 89,305,570 (GRCm39) A382T probably damaging Het
Crygc A G 1: 65,112,484 (GRCm39) F30S probably damaging Het
Cstf2t A G 19: 31,060,992 (GRCm39) Q176R possibly damaging Het
Ctif A T 18: 75,770,213 (GRCm39) H57Q probably benign Het
Cyp2c40 A G 19: 39,792,289 (GRCm39) *195Q probably null Het
Cyp2j8 T A 4: 96,387,840 (GRCm39) D207V probably damaging Het
Ddx49 A G 8: 70,750,605 (GRCm39) V123A possibly damaging Het
E4f1 A T 17: 24,664,422 (GRCm39) I456K probably benign Het
Eif4b T C 15: 101,997,435 (GRCm39) S317P unknown Het
Enam A T 5: 88,652,016 (GRCm39) Q1175L possibly damaging Het
Eppk1 T C 15: 75,994,871 (GRCm39) Y670C probably benign Het
Fam163b G T 2: 27,002,752 (GRCm39) Q82K probably benign Het
Fam193a A T 5: 34,588,526 (GRCm39) K358N probably damaging Het
Gls C A 1: 52,235,939 (GRCm39) R392L probably damaging Het
Gramd1c A G 16: 43,810,232 (GRCm39) V247A probably damaging Het
Gucy1a1 C T 3: 82,016,014 (GRCm39) E325K possibly damaging Het
Hectd4 T C 5: 121,392,434 (GRCm39) C233R possibly damaging Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Kif28 A G 1: 179,536,989 (GRCm39) V498A possibly damaging Het
Klhdc7a T C 4: 139,693,250 (GRCm39) S566G possibly damaging Het
Mlph G A 1: 90,861,248 (GRCm39) probably null Het
Mndal T A 1: 173,684,961 (GRCm39) Y536F probably benign Het
Mrgpra2a A T 7: 47,076,411 (GRCm39) C282* probably null Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Msh3 A T 13: 92,410,536 (GRCm39) I684N probably damaging Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Nfxl1 T C 5: 72,680,879 (GRCm39) K747R probably benign Het
Nup98 T G 7: 101,773,404 (GRCm39) H1641P possibly damaging Het
Or8b35 A C 9: 37,903,856 (GRCm39) T18P probably damaging Het
Pcm1 A G 8: 41,728,736 (GRCm39) N570D probably damaging Het
Plekhh1 T A 12: 79,101,905 (GRCm39) V325E probably benign Het
Rabl3 A T 16: 37,384,120 (GRCm39) I176F probably damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Tars2 G A 3: 95,658,294 (GRCm39) T177I probably benign Het
Tenm2 T A 11: 35,997,563 (GRCm39) N842I probably damaging Het
Tmem175 A G 5: 108,792,432 (GRCm39) E236G possibly damaging Het
Trank1 A G 9: 111,220,753 (GRCm39) T2497A probably benign Het
Trf A G 9: 103,105,168 (GRCm39) V48A probably benign Het
Ttc28 A G 5: 111,331,258 (GRCm39) K493E possibly damaging Het
Unc50 T C 1: 37,470,402 (GRCm39) S9P probably benign Het
Uso1 T A 5: 92,341,861 (GRCm39) probably null Het
Usp49 A T 17: 47,985,753 (GRCm39) N487I possibly damaging Het
Xab2 T C 8: 3,660,638 (GRCm39) D768G probably benign Het
Xcr1 T C 9: 123,685,657 (GRCm39) E35G possibly damaging Het
Other mutations in Relb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Relb APN 7 19,356,849 (GRCm39) critical splice donor site probably null
IGL00661:Relb APN 7 19,350,336 (GRCm39) missense possibly damaging 0.92
IGL01338:Relb APN 7 19,350,298 (GRCm39) missense probably benign 0.03
IGL01340:Relb APN 7 19,350,298 (GRCm39) missense probably benign 0.03
IGL01341:Relb APN 7 19,350,298 (GRCm39) missense probably benign 0.03
IGL01576:Relb APN 7 19,346,526 (GRCm39) missense probably benign 0.07
IGL01672:Relb APN 7 19,345,619 (GRCm39) missense probably benign 0.44
IGL01953:Relb APN 7 19,349,482 (GRCm39) critical splice donor site probably null
IGL02792:Relb APN 7 19,347,789 (GRCm39) missense probably damaging 1.00
IGL03117:Relb APN 7 19,346,582 (GRCm39) missense probably damaging 1.00
R0940:Relb UTSW 7 19,345,767 (GRCm39) missense probably damaging 1.00
R2164:Relb UTSW 7 19,347,686 (GRCm39) splice site probably null
R3878:Relb UTSW 7 19,351,769 (GRCm39) missense probably damaging 1.00
R4747:Relb UTSW 7 19,361,847 (GRCm39) critical splice donor site probably null
R4795:Relb UTSW 7 19,353,764 (GRCm39) missense probably damaging 1.00
R4996:Relb UTSW 7 19,349,528 (GRCm39) missense probably benign 0.01
R5330:Relb UTSW 7 19,340,630 (GRCm39) missense possibly damaging 0.69
R7252:Relb UTSW 7 19,346,538 (GRCm39) nonsense probably null
R8818:Relb UTSW 7 19,353,762 (GRCm39) missense probably damaging 1.00
R8836:Relb UTSW 7 19,345,799 (GRCm39) missense possibly damaging 0.80
R9148:Relb UTSW 7 19,350,276 (GRCm39) missense probably damaging 1.00
X0023:Relb UTSW 7 19,346,592 (GRCm39) missense probably benign 0.22
X0066:Relb UTSW 7 19,353,675 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTGTGATGACCAGGTAC -3'
(R):5'- TAAGGGTCCGGTACAGGGTATG -3'

Sequencing Primer
(F):5'- TGATGACCAGGTACGGCCG -3'
(R):5'- GCTTATATCCCAGCAGGTGAG -3'
Posted On 2019-10-24