Incidental Mutation 'R6318:Rela'
ID 510323
Institutional Source Beutler Lab
Gene Symbol Rela
Ensembl Gene ENSMUSG00000024927
Gene Name v-rel reticuloendotheliosis viral oncogene homolog A (avian)
Synonyms p65, p65 NF kappaB
MMRRC Submission 044473-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6318 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5687511-5698158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5696992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 400 (P400T)
Ref Sequence ENSEMBL: ENSMUSP00000025867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025867] [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000164304] [ENSMUST00000169854]
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 benign
Transcript: ENSMUST00000025867
AA Change: P400T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025867
Gene: ENSMUSG00000024927
AA Change: P400T

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
Predicted Effect probably benign
Transcript: ENSMUST00000071857
SMART Domains Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 529 7.2e-64 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080824
SMART Domains Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164304
SMART Domains Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169854
SMART Domains Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 99% (74/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,270,474 (GRCm39) T13A possibly damaging Het
Abcg4 T C 9: 44,186,645 (GRCm39) T500A probably benign Het
Adcy4 T A 14: 56,006,681 (GRCm39) I1051F probably damaging Het
Adgrg6 A T 10: 14,343,241 (GRCm39) N235K probably benign Het
Aldh3a2 A C 11: 61,153,245 (GRCm39) Y160* probably null Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Armt1 T C 10: 4,400,859 (GRCm39) M202T probably benign Het
Brd2 C A 17: 34,331,872 (GRCm39) V349F probably damaging Het
Btnl10 A T 11: 58,817,691 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,253,591 (GRCm39) V216A possibly damaging Het
Ccdc85c A T 12: 108,240,968 (GRCm39) L142Q unknown Het
Cdc27 A T 11: 104,419,520 (GRCm39) S172T probably damaging Het
Ceacam14 T C 7: 17,548,237 (GRCm39) I109T probably damaging Het
Ces5a C T 8: 94,261,211 (GRCm39) G72E probably damaging Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Clec14a G A 12: 58,315,001 (GRCm39) P207L probably damaging Het
Clec16a G A 16: 10,448,652 (GRCm39) R599H probably damaging Het
Csmd1 A T 8: 15,953,212 (GRCm39) I3423N probably damaging Het
Cyp4a29 C A 4: 115,107,396 (GRCm39) N243K probably benign Het
Ddx59 T C 1: 136,344,610 (GRCm39) F94L probably damaging Het
Dusp3 A C 11: 101,877,697 (GRCm39) V19G probably benign Het
Fat3 T C 9: 15,828,280 (GRCm39) probably benign Het
Fgfr4 T A 13: 55,313,921 (GRCm39) V545E probably damaging Het
Fxn G T 19: 24,257,790 (GRCm39) A47D probably damaging Het
Gdpgp1 A T 7: 79,888,898 (GRCm39) I310F possibly damaging Het
Gm7210 A T 7: 11,328,040 (GRCm39) noncoding transcript Het
Grm7 G T 6: 111,335,836 (GRCm39) C749F probably damaging Het
Hps4 T G 5: 112,494,495 (GRCm39) V26G probably damaging Het
Igf1r A G 7: 67,814,981 (GRCm39) D294G probably benign Het
Immp1l T C 2: 105,761,172 (GRCm39) F27S probably benign Het
Kcnk3 T A 5: 30,779,930 (GRCm39) C327S probably damaging Het
Kif13a T A 13: 46,968,683 (GRCm39) probably null Het
Krtap5-4 T C 7: 141,857,827 (GRCm39) S166P unknown Het
Lyst G A 13: 13,917,896 (GRCm39) D3319N possibly damaging Het
Malrd1 T G 2: 16,047,078 (GRCm39) S1735A unknown Het
Myh4 A G 11: 67,134,268 (GRCm39) T308A probably benign Het
Myh8 A T 11: 67,190,167 (GRCm39) Q1269L probably benign Het
Myo15b G A 11: 115,781,657 (GRCm39) V1367I probably damaging Het
Nae1 T C 8: 105,250,269 (GRCm39) D208G probably benign Het
Nelfe T A 17: 35,073,432 (GRCm39) V296D probably damaging Het
Nkapd1 T C 9: 50,518,761 (GRCm39) R284G probably benign Het
Npepps A T 11: 97,109,374 (GRCm39) V734E probably damaging Het
Ogdh A G 11: 6,299,390 (GRCm39) N752S probably damaging Het
Or11i1 T C 3: 106,729,503 (GRCm39) D124G probably damaging Het
Or3a1b A T 11: 74,012,547 (GRCm39) Q144L possibly damaging Het
Or5t9 A G 2: 86,659,998 (GRCm39) I301V possibly damaging Het
Or8b1 T C 9: 38,399,673 (GRCm39) M116T probably benign Het
Otof C A 5: 30,571,888 (GRCm39) G171V probably damaging Het
Phtf2 A T 5: 21,006,939 (GRCm39) V208D probably damaging Het
Pkn1 T A 8: 84,410,220 (GRCm39) T340S probably damaging Het
Plcd4 C T 1: 74,602,753 (GRCm39) L668F possibly damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss50 A T 9: 110,690,367 (GRCm39) D170V probably damaging Het
Ptprg T C 14: 12,237,118 (GRCm38) V604A probably damaging Het
Rab33b T C 3: 51,400,826 (GRCm39) V100A probably damaging Het
Rbm26 T A 14: 105,368,971 (GRCm39) D736V probably damaging Het
Rpusd4 T C 9: 35,179,334 (GRCm39) L50P probably damaging Het
Scn10a A C 9: 119,456,181 (GRCm39) Y1214D probably damaging Het
Sema3c A G 5: 17,877,430 (GRCm39) E179G probably damaging Het
Skint5 T A 4: 113,374,330 (GRCm39) D1253V unknown Het
Sp4 G T 12: 118,201,913 (GRCm39) P771H probably damaging Het
Sphkap T A 1: 83,256,099 (GRCm39) Y263F probably damaging Het
Ssbp1 G A 6: 40,453,687 (GRCm39) V78I probably benign Het
St3gal6 A G 16: 58,306,769 (GRCm39) I87T probably benign Het
Tango6 T A 8: 107,545,129 (GRCm39) D997E probably benign Het
Tpr C T 1: 150,321,639 (GRCm39) P2265S possibly damaging Het
Ttc7b A T 12: 100,291,936 (GRCm39) F212Y probably damaging Het
Ubc A G 5: 125,465,324 (GRCm39) M1T probably null Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Yes1 T C 5: 32,809,030 (GRCm39) I132T possibly damaging Het
Ythdc2 A G 18: 44,993,444 (GRCm39) T830A probably benign Het
Zbtb41 T A 1: 139,358,044 (GRCm39) F451I possibly damaging Het
Zfp995 C T 17: 22,099,493 (GRCm39) C247Y probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCGTGTATGTCTCTCACTG -3'
(R):5'- ATGCCAGGTCTGTGAACACTC -3'

Sequencing Primer
(F):5'- GTGTATGTCTCTCACTGCCTCTGAG -3'
(R):5'- GTCTGTGAACACTCCTGGGTC -3'
Posted On 2018-04-02