Incidental Mutation 'IGL02060:Rela'
ID185375
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 #IGL02060
Quality Score
Status
Chromosome19
Chromosomal Location5637483-5648130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 5638600 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 28 (K28N)
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: K28N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025867
Gene: ENSMUSG00000024927
AA Change: K28N

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,055,715 I178F probably damaging Het
Aff1 T C 5: 103,783,849 V111A possibly damaging Het
Aox1 T G 1: 58,097,955 I1168R possibly damaging Het
Atf6 T C 1: 170,819,420 R295G probably damaging Het
Blm C A 7: 80,514,580 probably benign Het
Cse1l A T 2: 166,930,653 L413F probably damaging Het
Dip2c T C 13: 9,622,630 V1024A probably damaging Het
Fam13c A T 10: 70,553,141 E498V probably damaging Het
Fat4 A G 3: 39,010,271 E4792G probably damaging Het
Gm5065 A G 7: 5,359,564 T65A probably damaging Het
Gm5724 T A 6: 141,754,408 M133L probably benign Het
Gramd1a A T 7: 31,130,571 L151* probably null Het
Igbp1b G T 6: 138,657,984 A154E probably damaging Het
Itga9 A G 9: 118,661,432 K277R probably damaging Het
Klra10 T C 6: 130,272,725 Y199C probably damaging Het
Mospd3 T C 5: 137,600,004 Y85C probably damaging Het
Nol6 C T 4: 41,117,700 A887T probably damaging Het
Olfr1006 C T 2: 85,674,834 V106I probably benign Het
Olfr1197 A T 2: 88,729,563 F12Y probably damaging Het
Olfr1427 A G 19: 12,099,460 Y60H probably damaging Het
Olfr480 G T 7: 108,066,671 F42L probably benign Het
Pcdhb17 A G 18: 37,486,416 T420A probably damaging Het
Pgghg T C 7: 140,946,633 V646A probably benign Het
Prkg2 A G 5: 99,024,515 S114P probably benign Het
Rhbdf2 G T 11: 116,600,626 A598E probably damaging Het
Ryr2 C T 13: 11,747,564 D1454N probably damaging Het
Sdk1 C T 5: 141,953,012 L397F possibly damaging Het
Sh3pxd2a C T 19: 47,373,378 probably benign Het
Slc9a2 T A 1: 40,756,293 V518E probably damaging Het
Snapc1 A G 12: 73,968,036 Y105C probably damaging Het
Sult2a8 A G 7: 14,425,401 S98P probably damaging Het
Tmem30c T A 16: 57,290,898 M4L probably benign Het
Trim71 T C 9: 114,513,253 I654V possibly damaging Het
Uroc1 A G 6: 90,338,255 S133G probably benign Het
Vmn2r100 A G 17: 19,521,254 N76S possibly damaging Het
Zcchc14 T C 8: 121,603,895 S910G probably damaging Het
Other mutations in Rela
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Rela APN 19 5645564 missense probably benign 0.00
IGL02550:Rela APN 19 5641506 missense possibly damaging 0.58
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 On2014-05-07