Incidental Mutation 'R8991:Tnfrsf21'
| ID |
684437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf21
|
| Ensembl Gene |
ENSMUSG00000023915 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 21 |
| Synonyms |
TR7, Death receptor 6, DR6 |
| MMRRC Submission |
068716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R8991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43396299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 528
(V528M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: V528M
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: V528M
| Domain | Start | End | E-Value | Type |
|---|
|
TNFR
|
50 |
88 |
1.58e1 |
SMART |
|
TNFR
|
91 |
131 |
3.42e-3 |
SMART |
|
TNFR
|
133 |
168 |
9.31e-5 |
SMART |
|
TNFR
|
171 |
211 |
1.1e-1 |
SMART |
|
transmembrane domain
|
351 |
370 |
N/A |
INTRINSIC |
|
DEATH
|
393 |
498 |
1.41e-22 |
SMART |
|
low complexity region
|
511 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
575 |
N/A |
INTRINSIC |
|
PDB:2DBH|A
|
576 |
655 |
5e-48 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired T cell differentiation and an enhanced Th2 response. Mice homozygous for a different knock-out allele show increased CD4+ T cell proliferation and Th2 cytokine production, and enhanced B cell proliferation, survival, and humoral responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,232 (GRCm39) |
K54I |
probably damaging |
Het |
| Ankrd34b |
T |
A |
13: 92,575,725 (GRCm39) |
I319K |
probably benign |
Het |
| Art2b |
G |
A |
7: 101,229,590 (GRCm39) |
A103V |
probably damaging |
Het |
| Atmin |
T |
G |
8: 117,679,665 (GRCm39) |
F126C |
probably damaging |
Het |
| Cc2d1b |
A |
T |
4: 108,482,143 (GRCm39) |
N139I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,200,987 (GRCm39) |
Y794C |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,988,885 (GRCm39) |
V1829D |
probably damaging |
Het |
| Cnep1r1 |
G |
A |
8: 88,856,447 (GRCm39) |
R99Q |
unknown |
Het |
| Cpq |
G |
C |
15: 33,213,353 (GRCm39) |
R124P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,327,191 (GRCm39) |
V45D |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,036,143 (GRCm39) |
S297A |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,777,506 (GRCm39) |
S3681T |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,165,731 (GRCm39) |
Y1872H |
possibly damaging |
Het |
| Fbn2 |
T |
A |
18: 58,239,395 (GRCm39) |
Q558L |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,676,491 (GRCm39) |
V580A |
probably benign |
Het |
| Fscn3 |
C |
T |
6: 28,434,472 (GRCm39) |
T349I |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,370 (GRCm39) |
V3701A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,496,347 (GRCm39) |
V3913A |
probably benign |
Het |
| Htt |
G |
A |
5: 35,063,062 (GRCm39) |
G2898D |
probably damaging |
Het |
| Ighv3-4 |
T |
G |
12: 114,217,266 (GRCm39) |
E108D |
probably benign |
Het |
| Irx5 |
G |
T |
8: 93,087,135 (GRCm39) |
E356* |
probably null |
Het |
| Kcnh6 |
A |
G |
11: 105,909,971 (GRCm39) |
I499V |
possibly damaging |
Het |
| Kcnj10 |
T |
A |
1: 172,196,963 (GRCm39) |
I159N |
probably damaging |
Het |
| Kcnmb4 |
T |
A |
10: 116,282,238 (GRCm39) |
H153L |
probably benign |
Het |
| Klhl8 |
T |
C |
5: 104,018,404 (GRCm39) |
N409S |
probably benign |
Het |
| Ksr1 |
A |
G |
11: 78,936,014 (GRCm39) |
S117P |
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,059,244 (GRCm39) |
V327E |
probably damaging |
Het |
| Mrc2 |
C |
A |
11: 105,229,740 (GRCm39) |
H724Q |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,248,805 (GRCm39) |
F372L |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,320,997 (GRCm39) |
D2703E |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,863,800 (GRCm39) |
Y50C |
unknown |
Het |
| Ofcc1 |
T |
A |
13: 40,296,277 (GRCm39) |
Y519F |
probably benign |
Het |
| Or2aj5 |
T |
A |
16: 19,424,511 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f54 |
T |
C |
2: 111,123,348 (GRCm39) |
I245T |
probably damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,682 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4p19 |
A |
C |
2: 88,242,723 (GRCm39) |
M93R |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Phrf1 |
A |
G |
7: 140,823,671 (GRCm39) |
D4G |
unknown |
Het |
| Ppp4r3b |
A |
T |
11: 29,123,306 (GRCm39) |
M1L |
probably damaging |
Het |
| Prmt7 |
A |
G |
8: 106,943,874 (GRCm39) |
|
probably null |
Het |
| Retnlg |
A |
G |
16: 48,694,038 (GRCm39) |
T65A |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,911,896 (GRCm39) |
N1763D |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,514,588 (GRCm39) |
F1062S |
possibly damaging |
Het |
| Scube3 |
A |
C |
17: 28,383,027 (GRCm39) |
K402Q |
probably damaging |
Het |
| Skic2 |
T |
A |
17: 35,059,166 (GRCm39) |
D1067V |
probably damaging |
Het |
| Slc25a22 |
C |
A |
7: 141,013,871 (GRCm39) |
D30Y |
probably damaging |
Het |
| Smim17 |
A |
T |
7: 6,427,720 (GRCm39) |
Q2L |
possibly damaging |
Het |
| Son |
G |
T |
16: 91,453,366 (GRCm39) |
M704I |
probably benign |
Het |
| Son |
C |
T |
16: 91,453,608 (GRCm39) |
S785F |
possibly damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,894,290 (GRCm39) |
S1406P |
probably benign |
Het |
| Trim21 |
A |
T |
7: 102,212,908 (GRCm39) |
V130E |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,289,295 (GRCm39) |
I94F |
probably benign |
Het |
| Tubb4a |
C |
T |
17: 57,388,169 (GRCm39) |
V286I |
probably benign |
Het |
| Vmn1r180 |
T |
A |
7: 23,652,076 (GRCm39) |
S80T |
probably benign |
Het |
| Vmn2r114 |
A |
C |
17: 23,529,286 (GRCm39) |
I272S |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,234,033 (GRCm39) |
Y726* |
probably null |
Het |
| Zdhhc16 |
T |
C |
19: 41,926,465 (GRCm39) |
F83L |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
|
| Other mutations in Tnfrsf21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01406:Tnfrsf21
|
APN |
17 |
43,348,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01663:Tnfrsf21
|
APN |
17 |
43,398,702 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01811:Tnfrsf21
|
APN |
17 |
43,348,504 (GRCm39) |
missense |
probably benign |
|
|
IGL01916:Tnfrsf21
|
APN |
17 |
43,350,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01934:Tnfrsf21
|
APN |
17 |
43,376,078 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02184:Tnfrsf21
|
APN |
17 |
43,396,354 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02292:Tnfrsf21
|
APN |
17 |
43,350,802 (GRCm39) |
missense |
probably benign |
|
|
IGL02385:Tnfrsf21
|
APN |
17 |
43,350,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Tnfrsf21
|
APN |
17 |
43,398,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03001:Tnfrsf21
|
APN |
17 |
43,398,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03003:Tnfrsf21
|
APN |
17 |
43,350,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4480001:Tnfrsf21
|
UTSW |
17 |
43,348,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0007:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0046:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0088:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0091:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0102:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0102:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0103:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0105:Tnfrsf21
|
UTSW |
17 |
43,351,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0105:Tnfrsf21
|
UTSW |
17 |
43,351,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0206:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0211:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0240:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0243:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0308:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0363:Tnfrsf21
|
UTSW |
17 |
43,348,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0456:Tnfrsf21
|
UTSW |
17 |
43,348,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0522:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0523:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0525:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0528:Tnfrsf21
|
UTSW |
17 |
43,348,505 (GRCm39) |
missense |
probably benign |
|
|
R0543:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0549:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0550:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0699:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0724:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0734:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0847:Tnfrsf21
|
UTSW |
17 |
43,349,104 (GRCm39) |
missense |
probably benign |
|
|
R0880:Tnfrsf21
|
UTSW |
17 |
43,348,733 (GRCm39) |
nonsense |
probably null |
|
|
R1591:Tnfrsf21
|
UTSW |
17 |
43,396,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2069:Tnfrsf21
|
UTSW |
17 |
43,348,829 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2153:Tnfrsf21
|
UTSW |
17 |
43,398,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2323:Tnfrsf21
|
UTSW |
17 |
43,396,420 (GRCm39) |
nonsense |
probably null |
|
|
R3941:Tnfrsf21
|
UTSW |
17 |
43,348,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Tnfrsf21
|
UTSW |
17 |
43,398,733 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4509:Tnfrsf21
|
UTSW |
17 |
43,396,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4510:Tnfrsf21
|
UTSW |
17 |
43,375,910 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4511:Tnfrsf21
|
UTSW |
17 |
43,375,910 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4708:Tnfrsf21
|
UTSW |
17 |
43,349,123 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4721:Tnfrsf21
|
UTSW |
17 |
43,396,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Tnfrsf21
|
UTSW |
17 |
43,348,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5437:Tnfrsf21
|
UTSW |
17 |
43,348,753 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5767:Tnfrsf21
|
UTSW |
17 |
43,348,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6057:Tnfrsf21
|
UTSW |
17 |
43,350,606 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6392:Tnfrsf21
|
UTSW |
17 |
43,327,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6860:Tnfrsf21
|
UTSW |
17 |
43,327,957 (GRCm39) |
missense |
probably benign |
|
|
R7253:Tnfrsf21
|
UTSW |
17 |
43,348,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7288:Tnfrsf21
|
UTSW |
17 |
43,348,709 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7643:Tnfrsf21
|
UTSW |
17 |
43,348,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7937:Tnfrsf21
|
UTSW |
17 |
43,348,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8098:Tnfrsf21
|
UTSW |
17 |
43,350,790 (GRCm39) |
missense |
probably benign |
|
|
R8495:Tnfrsf21
|
UTSW |
17 |
43,349,128 (GRCm39) |
missense |
probably benign |
|
|
R8865:Tnfrsf21
|
UTSW |
17 |
43,396,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Tnfrsf21
|
UTSW |
17 |
43,348,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Tnfrsf21
|
UTSW |
17 |
43,398,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9220:Tnfrsf21
|
UTSW |
17 |
43,398,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V3553:Tnfrsf21
|
UTSW |
17 |
43,348,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACGAACTCTGAAAGGGTTC -3'
(R):5'- TCAGCTACAACTGGGCTGTG -3'
Sequencing Primer
(F):5'- CTCGCTTGAGCTTCATAGTAAGAC -3'
(R):5'- CTACAACTGGGCTGTGGGAGTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation