Incidental Mutation 'R3617:Rel'
| ID |
268486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rel
|
| Ensembl Gene |
ENSMUSG00000020275 |
| Gene Name |
reticuloendotheliosis oncogene |
| Synonyms |
c-Rel |
| MMRRC Submission |
040674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23686847-23720969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23695780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 202
(D202E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102864]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102864
AA Change: D202E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099928
Gene: ENSMUSG00000020275
AA Change: D202E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RHD_DNA_bind
|
10 |
178 |
8.1e-78 |
PFAM |
|
IPT
|
185 |
280 |
7.64e-24 |
SMART |
|
low complexity region
|
512 |
530 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1044 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous inactivation of this gene causes defects in lymphocyte proliferation, humoral immunity and cytokine production, and may lead to impaired Th1 responses and resistance to autoimmune disease. Mice lacking only the COOH-terminal region show severehemopoietic defects and lymphoid hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cbfa2t2 |
A |
T |
2: 154,278,904 (GRCm39) |
|
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
| Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
| Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
| Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
| Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,583,283 (GRCm39) |
I312V |
possibly damaging |
Het |
| Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
| Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
| Ndufa9 |
G |
T |
6: 126,826,071 (GRCm39) |
|
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
| Pigw |
T |
C |
11: 84,769,133 (GRCm39) |
I65M |
probably damaging |
Het |
| Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
| Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,330,759 (GRCm39) |
T47M |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
| Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,357,975 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Rel
|
APN |
11 |
23,707,043 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL00819:Rel
|
APN |
11 |
23,693,029 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL00906:Rel
|
APN |
11 |
23,694,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01358:Rel
|
APN |
11 |
23,711,155 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01820:Rel
|
APN |
11 |
23,703,218 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01889:Rel
|
APN |
11 |
23,707,035 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03270:Rel
|
APN |
11 |
23,692,584 (GRCm39) |
missense |
probably benign |
0.16 |
|
Amun-ra
|
UTSW |
11 |
23,707,026 (GRCm39) |
nonsense |
probably null |
|
|
Fleur
|
UTSW |
11 |
0 () |
unclassified |
|
|
|
giza
|
UTSW |
11 |
23,707,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Horus
|
UTSW |
11 |
23,703,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
osirus
|
UTSW |
11 |
23,692,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
Seth
|
UTSW |
11 |
23,698,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:Rel
|
UTSW |
11 |
23,707,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Rel
|
UTSW |
11 |
23,692,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0930:Rel
|
UTSW |
11 |
23,692,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1312:Rel
|
UTSW |
11 |
23,707,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1339:Rel
|
UTSW |
11 |
23,695,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Rel
|
UTSW |
11 |
23,695,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Rel
|
UTSW |
11 |
23,692,761 (GRCm39) |
missense |
probably benign |
|
|
R1981:Rel
|
UTSW |
11 |
23,692,761 (GRCm39) |
missense |
probably benign |
|
|
R1982:Rel
|
UTSW |
11 |
23,692,761 (GRCm39) |
missense |
probably benign |
|
|
R2513:Rel
|
UTSW |
11 |
23,695,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Rel
|
UTSW |
11 |
23,711,129 (GRCm39) |
missense |
probably benign |
|
|
R2870:Rel
|
UTSW |
11 |
23,711,129 (GRCm39) |
missense |
probably benign |
|
|
R2871:Rel
|
UTSW |
11 |
23,711,129 (GRCm39) |
missense |
probably benign |
|
|
R2871:Rel
|
UTSW |
11 |
23,711,129 (GRCm39) |
missense |
probably benign |
|
|
R2872:Rel
|
UTSW |
11 |
23,711,129 (GRCm39) |
missense |
probably benign |
|
|
R2872:Rel
|
UTSW |
11 |
23,711,129 (GRCm39) |
missense |
probably benign |
|
|
R3976:Rel
|
UTSW |
11 |
23,692,939 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4010:Rel
|
UTSW |
11 |
23,711,138 (GRCm39) |
missense |
probably benign |
|
|
R4067:Rel
|
UTSW |
11 |
23,703,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5345:Rel
|
UTSW |
11 |
23,692,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5866:Rel
|
UTSW |
11 |
23,692,724 (GRCm39) |
nonsense |
probably null |
|
|
R6032:Rel
|
UTSW |
11 |
23,692,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6032:Rel
|
UTSW |
11 |
23,692,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6562:Rel
|
UTSW |
11 |
23,707,026 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Rel
|
UTSW |
11 |
23,694,304 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7516:Rel
|
UTSW |
11 |
23,692,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7522:Rel
|
UTSW |
11 |
23,720,676 (GRCm39) |
splice site |
probably null |
|
|
R7663:Rel
|
UTSW |
11 |
23,692,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Rel
|
UTSW |
11 |
23,692,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7960:Rel
|
UTSW |
11 |
23,694,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8679:Rel
|
UTSW |
11 |
23,692,430 (GRCm39) |
missense |
probably benign |
|
|
R8819:Rel
|
UTSW |
11 |
23,695,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Rel
|
UTSW |
11 |
23,698,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Rel
|
UTSW |
11 |
23,698,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Rel
|
UTSW |
11 |
23,695,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCCCAGTCATTCAACAC -3'
(R):5'- CTTCTGATGATGCACTGTTACATGG -3'
Sequencing Primer
(F):5'- TTCCCAGTCATTCAACACAAAACG -3'
(R):5'- TGCCCCAAATACTGCAGA -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation