Incidental Mutation 'IGL02060:Rela'
ID 185375
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 # IGL02060
Quality Score
Status
Chromosome 19
Chromosomal Location 5687511-5698158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5688628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 28 (K28N)
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 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: 90,852,603 (GRCm39) I178F probably damaging Het
Aff1 T C 5: 103,931,715 (GRCm39) V111A possibly damaging Het
Aox1 T G 1: 58,137,114 (GRCm39) I1168R possibly damaging Het
Atf6 T C 1: 170,646,989 (GRCm39) R295G probably damaging Het
Blm C A 7: 80,164,328 (GRCm39) probably benign Het
Cse1l A T 2: 166,772,573 (GRCm39) L413F probably damaging Het
Dip2c T C 13: 9,672,666 (GRCm39) V1024A probably damaging Het
Fam13c A T 10: 70,388,971 (GRCm39) E498V probably damaging Het
Fat4 A G 3: 39,064,420 (GRCm39) E4792G probably damaging Het
Gramd1a A T 7: 30,829,996 (GRCm39) L151* probably null Het
Igbp1b G T 6: 138,634,982 (GRCm39) A154E probably damaging Het
Itga9 A G 9: 118,490,500 (GRCm39) K277R probably damaging Het
Klra10 T C 6: 130,249,688 (GRCm39) Y199C probably damaging Het
Lgalsl2 A G 7: 5,362,563 (GRCm39) T65A probably damaging Het
Mospd3 T C 5: 137,598,266 (GRCm39) Y85C probably damaging Het
Nol6 C T 4: 41,117,700 (GRCm39) A887T probably damaging Het
Or4a27 A T 2: 88,559,907 (GRCm39) F12Y probably damaging Het
Or4z4 A G 19: 12,076,824 (GRCm39) Y60H probably damaging Het
Or5p57 G T 7: 107,665,878 (GRCm39) F42L probably benign Het
Or9g4 C T 2: 85,505,178 (GRCm39) V106I probably benign Het
Pcdhb17 A G 18: 37,619,469 (GRCm39) T420A probably damaging Het
Pgghg T C 7: 140,526,546 (GRCm39) V646A probably benign Het
Prkg2 A G 5: 99,172,374 (GRCm39) S114P probably benign Het
Rhbdf2 G T 11: 116,491,452 (GRCm39) A598E probably damaging Het
Ryr2 C T 13: 11,762,450 (GRCm39) D1454N probably damaging Het
Sdk1 C T 5: 141,938,767 (GRCm39) L397F possibly damaging Het
Sh3pxd2a C T 19: 47,361,817 (GRCm39) probably benign Het
Slc9a2 T A 1: 40,795,453 (GRCm39) V518E probably damaging Het
Slco1a7 T A 6: 141,700,134 (GRCm39) M133L probably benign Het
Snapc1 A G 12: 74,014,810 (GRCm39) Y105C probably damaging Het
Sult2a8 A G 7: 14,159,326 (GRCm39) S98P probably damaging Het
Tmem30c T A 16: 57,111,261 (GRCm39) M4L probably benign Het
Trim71 T C 9: 114,342,321 (GRCm39) I654V possibly damaging Het
Uroc1 A G 6: 90,315,237 (GRCm39) S133G probably benign Het
Vmn2r100 A G 17: 19,741,516 (GRCm39) N76S possibly damaging Het
Zcchc14 T C 8: 122,330,634 (GRCm39) S910G probably damaging Het
Other mutations in Rela
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Rela APN 19 5,695,592 (GRCm39) missense probably benign 0.00
IGL02550:Rela APN 19 5,691,534 (GRCm39) missense possibly damaging 0.58
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 2014-05-07