Incidental Mutation 'IGL02550:Rela'
ID298044
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 #IGL02550
Quality Score
Status
Chromosome19
Chromosomal Location5637483-5648130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 5641506 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 236 (R236L)
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 possibly damaging
Transcript: ENSMUST00000025867
AA Change: R236L

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025867
Gene: ENSMUSG00000024927
AA Change: R236L

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik T G 15: 74,880,755 H24P probably damaging Het
Acadl A G 1: 66,845,166 probably null Het
Acer3 G A 7: 98,223,978 T171I probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Anxa2 A G 9: 69,467,306 S22G probably benign Het
Arrb2 T C 11: 70,436,870 I120T probably damaging Het
Atp11a G T 8: 12,816,997 K141N possibly damaging Het
Casd1 T C 6: 4,642,009 V762A probably benign Het
Ccdc61 A T 7: 18,893,302 S48T probably benign Het
Cntn2 T C 1: 132,529,063 M82V probably null Het
Cobll1 A G 2: 65,107,863 S359P probably damaging Het
Ctnnbl1 C A 2: 157,884,135 D465E probably benign Het
Def6 A T 17: 28,228,261 E622V probably benign Het
Dmgdh T C 13: 93,717,575 Y678H probably damaging Het
Dock9 A T 14: 121,698,312 M1K probably null Het
Esyt1 T C 10: 128,522,093 K216E probably damaging Het
Fhod3 A G 18: 25,022,960 D545G probably benign Het
Galnt12 A T 4: 47,104,126 D128V possibly damaging Het
Gm1110 C T 9: 26,881,834 V549I probably benign Het
Gm1966 A T 7: 106,601,639 noncoding transcript Het
Gm7361 A G 5: 26,261,122 I161V possibly damaging Het
Gsn T C 2: 35,282,607 probably benign Het
Il16 T A 7: 83,674,496 Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 D67G probably benign Het
Insrr T C 3: 87,804,498 L515P probably damaging Het
Jhy A G 9: 40,917,170 F480S probably benign Het
Klc4 C A 17: 46,636,910 probably null Het
Klhl12 G T 1: 134,467,705 C135F possibly damaging Het
Mboat7 G T 7: 3,683,906 probably null Het
Myo1f A G 17: 33,580,150 probably benign Het
Myo1f G A 17: 33,588,142 D522N probably damaging Het
Nbea C A 3: 56,019,414 M789I probably damaging Het
Ncapd2 T C 6: 125,177,447 D602G probably benign Het
Ncaph2 A T 15: 89,369,861 K344* probably null Het
Nek2 A G 1: 191,822,259 Y70C probably damaging Het
Olfr1277 T A 2: 111,270,004 D121V probably damaging Het
Olfr1281 T C 2: 111,328,500 L27P probably damaging Het
Olfr31 T C 14: 14,328,423 L104P possibly damaging Het
Olfr857 C A 9: 19,713,047 F73L possibly damaging Het
Olfr955 T A 9: 39,470,546 Y60F probably benign Het
Olfr992 G A 2: 85,399,822 A237V probably damaging Het
Plcb3 T A 19: 6,960,176 K625* probably null Het
Plrg1 T C 3: 83,061,123 probably null Het
Ptpn12 A G 5: 20,998,139 V547A probably benign Het
Ralgapb A G 2: 158,448,411 D748G probably damaging Het
Rcbtb2 A G 14: 73,162,019 E41G probably damaging Het
Rps6kc1 A G 1: 190,871,862 S188P probably damaging Het
Sipa1l1 A T 12: 82,440,949 K1666* probably null Het
Slco1a1 C T 6: 141,943,465 M40I probably benign Het
Smarca4 C A 9: 21,686,122 P1391Q probably benign Het
Stra6 A G 9: 58,150,083 N392S possibly damaging Het
Syt4 A G 18: 31,444,193 I36T probably damaging Het
Tgfbr2 A T 9: 116,110,129 M235K probably benign Het
Tmem87a T A 2: 120,374,485 probably null Het
Tmf1 T C 6: 97,158,561 D918G probably benign Het
Tnfaip2 A G 12: 111,446,101 Y312C probably damaging Het
Usp47 C T 7: 112,104,354 R1178C probably damaging Het
Vmn2r95 T A 17: 18,451,732 I577N probably damaging Het
Vps13b T C 15: 35,572,096 V953A probably benign Het
Wasl A G 6: 24,633,884 F127S probably damaging Het
Wdr1 C T 5: 38,540,863 V192I probably damaging Het
Wnt9a C T 11: 59,330,918 T214I probably damaging Het
Xpo5 A G 17: 46,229,329 D693G probably benign Het
Zan A G 5: 137,387,039 L5044P unknown Het
Zhx3 T C 2: 160,781,296 N317S 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
IGL03130:Rela APN 19 5639881 missense probably damaging 1.00
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 On2015-04-16