Incidental Mutation 'R6646:Rela'
ID |
527993 |
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 |
044767-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6646 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5687511-5698158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 5697132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 446
(D446E)
|
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 damaging
Transcript: ENSMUST00000025867
AA Change: D446E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025867 Gene: ENSMUSG00000024927 AA Change: D446E
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.1452 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (41/41) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
Dennd6b |
G |
T |
15: 89,070,387 (GRCm39) |
F427L |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
Loxl4 |
T |
C |
19: 42,587,220 (GRCm39) |
D625G |
probably damaging |
Het |
Lrrn2 |
C |
T |
1: 132,866,794 (GRCm39) |
P620S |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,610,612 (GRCm39) |
I156V |
probably benign |
Het |
Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
Synm |
A |
T |
7: 67,384,875 (GRCm39) |
I487K |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,838,247 (GRCm39) |
L52Q |
probably damaging |
Het |
Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
probably null |
Het |
|
Other mutations in Rela |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
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'- CTGTTACCATCAGGGCAGATCTC -3'
(R):5'- AGGCGAGTTATAGCTTCAGGG -3'
Sequencing Primer
(F):5'- TCAGGGCAGATCTCAAACCAGG -3'
(R):5'- ATAGCTTCAGGGTACTCCATCAG -3'
|
Posted On |
2018-07-24 |