Incidental Mutation 'H8786:Rela'
ID 44486
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # H8786 (G3) of strain 617
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5687511-5698158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5697046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 418 (S418T)
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: S418T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025867
Gene: ENSMUSG00000024927
AA Change: S418T

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: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,498,905 (GRCm39) Y363H probably benign Het
4933402N03Rik T A 7: 130,740,906 (GRCm39) R103S probably damaging Het
Aars1 A G 8: 111,772,187 (GRCm39) D459G probably benign Het
Adam25 A T 8: 41,207,261 (GRCm39) M176L probably benign Het
Adcy5 A G 16: 35,087,551 (GRCm39) I471V probably damaging Het
Ano8 A T 8: 71,931,388 (GRCm39) probably benign Het
Arhgef28 T A 13: 98,083,461 (GRCm39) Q1136L probably damaging Het
Atp13a3 A T 16: 30,178,543 (GRCm39) C164* probably null Het
Avl9 G A 6: 56,734,295 (GRCm39) A625T probably damaging Het
Avpr1a A T 10: 122,285,373 (GRCm39) M222L probably benign Het
B4galnt4 A T 7: 140,651,235 (GRCm39) M939L probably damaging Het
B4galt6 A G 18: 20,822,001 (GRCm39) F331S probably benign Het
C2cd2 G T 16: 97,680,840 (GRCm39) Q325K possibly damaging Het
Caml T G 13: 55,776,409 (GRCm39) L216R probably damaging Het
Cd200r4 A G 16: 44,653,736 (GRCm39) T132A possibly damaging Het
Ces1h A C 8: 94,089,550 (GRCm39) V283G probably damaging Het
Clptm1 A T 7: 19,369,629 (GRCm39) V427D possibly damaging Het
Drd1 T A 13: 54,207,122 (GRCm39) N357I possibly damaging Het
Foxq1 C G 13: 31,743,441 (GRCm39) S181W probably damaging Het
Gfra2 C T 14: 71,215,818 (GRCm39) T169M possibly damaging Het
Gm42542 T C 6: 68,872,634 (GRCm39) probably null Het
Hoxa13 CGG CGNGG 6: 52,260,636 (GRCm38) probably null Het
Hsd11b1 C A 1: 192,922,560 (GRCm39) A166S probably benign Het
Kcnab3 T A 11: 69,219,093 (GRCm39) F101L probably damaging Het
Klf6 C A 13: 5,911,790 (GRCm39) H51Q probably damaging Het
Krtap4-8 G A 11: 99,670,898 (GRCm39) P191L unknown Het
Lrrk2 T A 15: 91,557,561 (GRCm39) N26K probably benign Het
Mrgprd T C 7: 144,876,004 (GRCm39) S292P probably benign Het
Ms4a8a A G 19: 11,053,725 (GRCm39) I127T possibly damaging Het
Myo7a T G 7: 97,744,985 (GRCm39) N280T possibly damaging Het
Nipal4 A G 11: 46,041,304 (GRCm39) F297S probably damaging Het
Npas1 A G 7: 16,195,275 (GRCm39) I351T possibly damaging Het
Or12k7 A G 2: 36,958,341 (GRCm39) E8G probably benign Het
Or4a72 C A 2: 89,405,623 (GRCm39) G149V probably damaging Het
Or9e1 A T 11: 58,732,146 (GRCm39) I69F probably benign Het
Parp11 A G 6: 127,448,598 (GRCm39) T72A probably damaging Het
Pik3c3 T C 18: 30,427,396 (GRCm39) V300A probably damaging Het
Pik3cb T C 9: 98,928,612 (GRCm39) E881G possibly damaging Het
Polr2h T A 16: 20,539,281 (GRCm39) L57* probably null Het
Rptn A G 3: 93,305,180 (GRCm39) T838A possibly damaging Het
Sez6l2 T A 7: 126,560,955 (GRCm39) N413K possibly damaging Het
Slc6a2 A G 8: 93,721,268 (GRCm39) I466V probably benign Het
Slco4c1 A T 1: 96,768,876 (GRCm39) C329S probably damaging Het
Sppl2c A G 11: 104,077,691 (GRCm39) M164V probably benign Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
Sqor A C 2: 122,634,288 (GRCm39) I142L probably benign Het
Suco T C 1: 161,680,420 (GRCm39) E317G probably damaging Het
Tlk2 T A 11: 105,145,805 (GRCm39) I337N possibly damaging Het
Tln1 A T 4: 43,544,589 (GRCm39) N1113K probably damaging Het
Tmc2 A G 2: 130,068,182 (GRCm39) Y234C probably damaging Het
Tmem167 A C 13: 90,246,585 (GRCm39) K36N probably damaging Het
Trim72 T C 7: 127,603,963 (GRCm39) L103P probably damaging Het
Tut4 T C 4: 108,408,012 (GRCm39) probably null Het
Urb1 T A 16: 90,566,357 (GRCm39) M1477L probably benign Het
Vwa2 T A 19: 56,898,164 (GRCm39) M721K possibly damaging Het
Zfp143 T G 7: 109,693,575 (GRCm39) D636E 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
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
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
Predicted Primers PCR Primer
(F):5'- CATCAGGGCAGATCTCAAACCAGG -3'
(R):5'- TCCATGTCCGCAATGGAGGAGAAG -3'

Sequencing Primer
(F):5'- atggtcccttcctcagccat -3'
(R):5'- TTCAGGAGCTGCTGAAACTC -3'
Posted On 2013-06-11