Incidental Mutation 'IGL03130:Rela'
ID410275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rela
Ensembl Gene ENSMUSG00000024927
Gene Namev-rel reticuloendotheliosis viral oncogene homolog A (avian)
Synonymsp65, p65 NF kappaB
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03130
Quality Score
Status
Chromosome19
Chromosomal Location5637483-5648130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5639881 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 120 (C120R)
Ref Sequence ENSEMBL: ENSMUSP00000025867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025867]
PDB Structure
STRUCTURE OF NF-KB P50 HOMODIMER BOUND TO A KB SITE [X-RAY DIFFRACTION]
IKAPPABALPHA/NF-KAPPAB COMPLEX [X-RAY DIFFRACTION]
X-ray crystal structure of the IkBb/NF-kB p65 homodimer complex [X-RAY DIFFRACTION]
Crystal structure of a NF-kB heterodimer bound to an IFNb-kB [X-RAY DIFFRACTION]
Crystal structure of a NF-kB heterodimer bound to the Ig/HIV-kB siti [X-RAY DIFFRACTION]
The kB DNA sequence from the HLV-LTR functions as an allosteric regulator of HIV transcription [X-RAY DIFFRACTION]
NF-kappaB p65 subunit dimerization domain homodimer [X-RAY DIFFRACTION]
NF-kappaB p65 subunit dimerization domain homodimer N202R mutation [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF AN IKBBETA/NF-KB P65 HOMODIMER COMPLEX [X-RAY DIFFRACTION]
A NOVEL DNA RECOGNITION MODE BY NF-KB P65 HOMODIMER [X-RAY DIFFRACTION]
>> 4 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000025867
AA Change: C120R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025867
Gene: ENSMUSG00000024927
AA Change: C120R

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 21 186 3.6e-72 PFAM
IPT 193 289 2.81e-22 SMART
low complexity region 377 389 N/A INTRINSIC
low complexity region 399 417 N/A INTRINSIC
PDB:2LWW|B 425 490 1e-37 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice are embryonic lethal due to hepatic apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,474,589 E941G possibly damaging Het
AI314180 A T 4: 58,800,288 C1806S probably benign Het
Akap11 A T 14: 78,510,368 Y1526* probably null Het
Brd1 T C 15: 88,688,374 I1165V probably benign Het
Btbd11 G T 10: 85,388,483 probably null Het
Cdan1 T C 2: 120,727,912 D473G possibly damaging Het
Clstn3 G A 6: 124,459,263 L176F probably damaging Het
Ctif T C 18: 75,521,618 N279S probably benign Het
Dpy19l3 A G 7: 35,752,672 S16P probably benign Het
Fam151b T C 13: 92,450,193 Y244C probably benign Het
Gbf1 T C 19: 46,267,348 M750T possibly damaging Het
Gm11564 T A 11: 99,815,053 T184S unknown Het
Gnptab A G 10: 88,436,371 K958E possibly damaging Het
Hibch T C 1: 52,885,151 S162P possibly damaging Het
Itpr1 T C 6: 108,523,401 S2651P probably benign Het
Lyrm1 A G 7: 119,914,180 D56G probably damaging Het
Manba T C 3: 135,551,159 Y528H probably damaging Het
Npas2 A C 1: 39,313,028 E186D probably damaging Het
Olfr1314 A T 2: 112,091,821 D293E probably benign Het
Olfr371 A T 8: 85,230,629 I45F possibly damaging Het
Olfr867 C A 9: 20,055,372 L30F probably benign Het
Oraov1 A G 7: 144,916,460 E42G probably damaging Het
Pcdhb6 T A 18: 37,335,587 Y520* probably null Het
Plekhm1 C T 11: 103,377,381 R588H probably benign Het
Psg23 A T 7: 18,610,416 H371Q probably benign Het
Ptpn12 T C 5: 21,002,612 probably benign Het
Rps6kc1 T A 1: 190,799,811 I665F probably damaging Het
Spg21 A G 9: 65,473,708 Q99R probably benign Het
St14 A G 9: 31,097,071 probably null Het
Sult1c2 A T 17: 53,830,071 N274K probably benign Het
Syk T C 13: 52,622,732 V256A probably benign Het
Tcte1 A G 17: 45,533,296 D66G probably damaging Het
Tgm4 C T 9: 123,056,515 T374M probably damaging Het
Tns4 T C 11: 99,068,269 H668R probably damaging Het
Tsn C T 1: 118,305,269 A102T possibly damaging Het
Uvssa T A 5: 33,391,845 S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 Y31F possibly damaging Het
Vmn2r114 A T 17: 23,296,996 probably benign Het
Vmn2r27 T C 6: 124,192,317 D618G possibly damaging Het
Vmn2r91 T A 17: 18,110,111 probably benign Het
Vti1a T C 19: 55,391,847 Y143H probably damaging Het
Zfand4 T A 6: 116,273,659 Y17N probably damaging Het
Zfp729a T C 13: 67,619,642 probably null Het
Zfp827 A G 8: 79,060,957 T251A probably damaging Het
Other mutations in Rela
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Rela APN 19 5645564 missense probably benign 0.00
IGL02060:Rela APN 19 5638600 missense probably damaging 1.00
IGL02550:Rela APN 19 5641506 missense possibly damaging 0.58
H8786:Rela UTSW 19 5647018 missense probably benign 0.00
R1597:Rela UTSW 19 5645331 missense probably damaging 0.99
R4455:Rela UTSW 19 5647262 missense probably damaging 1.00
R5322:Rela UTSW 19 5645380 missense possibly damaging 0.48
R5994:Rela UTSW 19 5647064 missense possibly damaging 0.59
R6006:Rela UTSW 19 5639939 missense probably damaging 1.00
R6301:Rela UTSW 19 5645410 splice site probably null
R6318:Rela UTSW 19 5646964 missense probably benign 0.01
R6556:Rela UTSW 19 5647338 missense probably damaging 1.00
R6646:Rela UTSW 19 5647104 missense probably damaging 0.98
R7697:Rela UTSW 19 5641602 missense probably damaging 1.00
Z1176:Rela UTSW 19 5641649 missense probably benign 0.04
Posted On2016-08-02