Incidental Mutation 'IGL02550:Rela'
ID 298044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rela
Ensembl Gene ENSMUSG00000024927
Gene Name v-rel reticuloendotheliosis viral oncogene homolog A (avian)
Synonyms p65, p65 NF kappaB
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02550
Quality Score
Status
Chromosome 19
Chromosomal Location 5687511-5698158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5691534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 236 (R236L)
Ref Sequence ENSEMBL: ENSMUSP00000025867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025867]
AlphaFold Q04207
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
Acadl A G 1: 66,884,325 (GRCm39) probably null Het
Acer3 G A 7: 97,873,185 (GRCm39) T171I probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Anxa2 A G 9: 69,374,588 (GRCm39) S22G probably benign Het
Arrb2 T C 11: 70,327,696 (GRCm39) I120T probably damaging Het
Atp11a G T 8: 12,866,997 (GRCm39) K141N possibly damaging Het
Casd1 T C 6: 4,642,009 (GRCm39) V762A probably benign Het
Ccdc61 A T 7: 18,627,227 (GRCm39) S48T probably benign Het
Cntn2 T C 1: 132,456,801 (GRCm39) M82V probably null Het
Cobll1 A G 2: 64,938,207 (GRCm39) S359P probably damaging Het
Ctnnbl1 C A 2: 157,726,055 (GRCm39) D465E probably benign Het
Def6 A T 17: 28,447,235 (GRCm39) E622V probably benign Het
Dmgdh T C 13: 93,854,083 (GRCm39) Y678H probably damaging Het
Dock9 A T 14: 121,935,724 (GRCm39) M1K probably null Het
Esyt1 T C 10: 128,357,962 (GRCm39) K216E probably damaging Het
Fhod3 A G 18: 25,156,017 (GRCm39) D545G probably benign Het
Galnt12 A T 4: 47,104,126 (GRCm39) D128V possibly damaging Het
Gm1110 C T 9: 26,793,130 (GRCm39) V549I probably benign Het
Gm7361 A G 5: 26,466,120 (GRCm39) I161V possibly damaging Het
Gsn T C 2: 35,172,619 (GRCm39) probably benign Het
Gvin3 A T 7: 106,200,846 (GRCm39) noncoding transcript Het
Il16 T A 7: 83,323,704 (GRCm39) Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 (GRCm38) D67G probably benign Het
Insrr T C 3: 87,711,805 (GRCm39) L515P probably damaging Het
Jhy A G 9: 40,828,466 (GRCm39) F480S probably benign Het
Klc4 C A 17: 46,947,836 (GRCm39) probably null Het
Klhl12 G T 1: 134,395,443 (GRCm39) C135F possibly damaging Het
Ly6m T G 15: 74,752,604 (GRCm39) H24P probably damaging Het
Mboat7 G T 7: 3,686,905 (GRCm39) probably null Het
Myo1f G A 17: 33,807,116 (GRCm39) D522N probably damaging Het
Myo1f A G 17: 33,799,124 (GRCm39) probably benign Het
Nbea C A 3: 55,926,835 (GRCm39) M789I probably damaging Het
Ncapd2 T C 6: 125,154,410 (GRCm39) D602G probably benign Het
Ncaph2 A T 15: 89,254,064 (GRCm39) K344* probably null Het
Nek2 A G 1: 191,554,371 (GRCm39) Y70C probably damaging Het
Or2t1 T C 14: 14,328,423 (GRCm38) L104P possibly damaging Het
Or4k35 T A 2: 111,100,349 (GRCm39) D121V probably damaging Het
Or4k37 T C 2: 111,158,845 (GRCm39) L27P probably damaging Het
Or5ak22 G A 2: 85,230,166 (GRCm39) A237V probably damaging Het
Or7e166 C A 9: 19,624,343 (GRCm39) F73L possibly damaging Het
Or8g35 T A 9: 39,381,842 (GRCm39) Y60F probably benign Het
Plcb3 T A 19: 6,937,544 (GRCm39) K625* probably null Het
Plrg1 T C 3: 82,968,430 (GRCm39) probably null Het
Ptpn12 A G 5: 21,203,137 (GRCm39) V547A probably benign Het
Ralgapb A G 2: 158,290,331 (GRCm39) D748G probably damaging Het
Rcbtb2 A G 14: 73,399,459 (GRCm39) E41G probably damaging Het
Rps6kc1 A G 1: 190,604,059 (GRCm39) S188P probably damaging Het
Sipa1l1 A T 12: 82,487,723 (GRCm39) K1666* probably null Het
Slco1a1 C T 6: 141,889,191 (GRCm39) M40I probably benign Het
Smarca4 C A 9: 21,597,418 (GRCm39) P1391Q probably benign Het
Stra6 A G 9: 58,057,366 (GRCm39) N392S possibly damaging Het
Syt4 A G 18: 31,577,246 (GRCm39) I36T probably damaging Het
Tgfbr2 A T 9: 115,939,197 (GRCm39) M235K probably benign Het
Tmem87a T A 2: 120,204,966 (GRCm39) probably null Het
Tmf1 T C 6: 97,135,522 (GRCm39) D918G probably benign Het
Tnfaip2 A G 12: 111,412,535 (GRCm39) Y312C probably damaging Het
Usp47 C T 7: 111,703,561 (GRCm39) R1178C probably damaging Het
Vmn2r95 T A 17: 18,671,994 (GRCm39) I577N probably damaging Het
Vps13b T C 15: 35,572,242 (GRCm39) V953A probably benign Het
Wasl A G 6: 24,633,883 (GRCm39) F127S probably damaging Het
Wdr1 C T 5: 38,698,206 (GRCm39) V192I probably damaging Het
Wnt9a C T 11: 59,221,744 (GRCm39) T214I probably damaging Het
Xpo5 A G 17: 46,540,255 (GRCm39) D693G probably benign Het
Zan A G 5: 137,385,301 (GRCm39) L5044P unknown Het
Zhx3 T C 2: 160,623,216 (GRCm39) N317S probably damaging Het
Other mutations in Rela
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Rela APN 19 5,695,592 (GRCm39) missense probably benign 0.00
IGL02060:Rela APN 19 5,688,628 (GRCm39) missense probably damaging 1.00
IGL03130:Rela APN 19 5,689,909 (GRCm39) missense probably damaging 1.00
H8786:Rela UTSW 19 5,697,046 (GRCm39) missense probably benign 0.00
R1597:Rela UTSW 19 5,695,359 (GRCm39) missense probably damaging 0.99
R4455:Rela UTSW 19 5,697,290 (GRCm39) missense probably damaging 1.00
R5322:Rela UTSW 19 5,695,408 (GRCm39) missense possibly damaging 0.48
R5994:Rela UTSW 19 5,697,092 (GRCm39) missense possibly damaging 0.59
R6006:Rela UTSW 19 5,689,967 (GRCm39) missense probably damaging 1.00
R6301:Rela UTSW 19 5,695,438 (GRCm39) splice site probably null
R6318:Rela UTSW 19 5,696,992 (GRCm39) missense probably benign 0.01
R6556:Rela UTSW 19 5,697,366 (GRCm39) missense probably damaging 1.00
R6646:Rela UTSW 19 5,697,132 (GRCm39) missense probably damaging 0.98
R7697:Rela UTSW 19 5,691,630 (GRCm39) missense probably damaging 1.00
R9454:Rela UTSW 19 5,695,368 (GRCm39) missense probably damaging 1.00
Z1176:Rela UTSW 19 5,691,677 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16