Incidental Mutation 'R0363:Tnfrsf21'
| ID |
30210 |
| 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 |
038569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R0363 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43348768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 127
(T127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: T127A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: T127A
| 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 |
|
| Meta Mutation Damage Score |
0.0613 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.5%
|
| Validation Efficiency |
98% (78/80) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
T |
A |
4: 109,381,520 (GRCm39) |
Q86L |
probably null |
Het |
| Abhd2 |
A |
G |
7: 79,000,561 (GRCm39) |
D262G |
possibly damaging |
Het |
| Abhd5 |
T |
C |
9: 122,197,211 (GRCm39) |
F133L |
possibly damaging |
Het |
| Agap2 |
T |
A |
10: 126,926,834 (GRCm39) |
V957E |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,292,676 (GRCm39) |
K919R |
probably damaging |
Het |
| Ap1m1 |
T |
C |
8: 73,006,738 (GRCm39) |
S245P |
probably benign |
Het |
| Ap1m1 |
T |
C |
8: 73,010,568 (GRCm39) |
|
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,070,168 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,060,136 (GRCm39) |
N2840Y |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,981,027 (GRCm39) |
S327P |
probably damaging |
Het |
| Arhgap21 |
C |
A |
2: 20,885,944 (GRCm39) |
R421L |
probably damaging |
Het |
| Ccdc85a |
A |
T |
11: 28,533,400 (GRCm39) |
I48N |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,856,244 (GRCm39) |
S672P |
probably damaging |
Het |
| Ciz1 |
G |
C |
2: 32,267,375 (GRCm39) |
|
probably null |
Het |
| Cmbl |
G |
A |
15: 31,585,588 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
A |
G |
13: 93,231,377 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,583,143 (GRCm39) |
K1074* |
probably null |
Het |
| Cntnap5b |
A |
G |
1: 100,202,193 (GRCm39) |
M347V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,917,991 (GRCm39) |
M203K |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,689 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
A |
G |
4: 127,129,314 (GRCm39) |
E892G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,275,948 (GRCm39) |
S2612P |
probably damaging |
Het |
| Epas1 |
T |
G |
17: 87,113,276 (GRCm39) |
|
probably benign |
Het |
| Etv5 |
G |
A |
16: 22,230,458 (GRCm39) |
A192V |
probably benign |
Het |
| Fa2h |
T |
A |
8: 112,075,921 (GRCm39) |
H234L |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,170,134 (GRCm39) |
Y47C |
probably damaging |
Het |
| Flvcr1 |
T |
A |
1: 190,744,451 (GRCm39) |
|
probably benign |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,610,886 (GRCm39) |
|
probably benign |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,721,010 (GRCm39) |
|
probably null |
Het |
| Krt4 |
G |
A |
15: 101,833,081 (GRCm39) |
R9C |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,132,525 (GRCm39) |
S876P |
probably damaging |
Het |
| Mettl21e |
A |
G |
1: 44,250,190 (GRCm39) |
|
probably null |
Het |
| Msh2 |
C |
T |
17: 88,024,904 (GRCm39) |
T594M |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,437,536 (GRCm39) |
S973P |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,354,697 (GRCm39) |
M889L |
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,276,369 (GRCm39) |
I193T |
probably benign |
Het |
| Nudt13 |
A |
T |
14: 20,359,851 (GRCm39) |
I193F |
probably damaging |
Het |
| Or2n1 |
A |
G |
17: 38,486,338 (GRCm39) |
D121G |
probably damaging |
Het |
| Or3a1 |
C |
T |
11: 74,225,925 (GRCm39) |
G44D |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,200 (GRCm39) |
S240T |
probably damaging |
Het |
| Or5p73 |
A |
T |
7: 108,064,941 (GRCm39) |
T137S |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,606,381 (GRCm39) |
V344A |
probably damaging |
Het |
| P2rx7 |
C |
T |
5: 122,795,093 (GRCm39) |
Q128* |
probably null |
Het |
| Pcdhb22 |
G |
A |
18: 37,652,213 (GRCm39) |
R227H |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Pltp |
C |
T |
2: 164,682,056 (GRCm39) |
R394H |
probably benign |
Het |
| Ppip5k1 |
C |
G |
2: 121,177,836 (GRCm39) |
A324P |
probably damaging |
Het |
| Pramel14 |
C |
T |
4: 143,718,221 (GRCm39) |
M407I |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,679,737 (GRCm39) |
V251G |
unknown |
Het |
| Prkg1 |
T |
C |
19: 31,641,596 (GRCm39) |
E29G |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,380 (GRCm39) |
S409P |
unknown |
Het |
| Rp1 |
T |
A |
1: 4,417,941 (GRCm39) |
D1057V |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,029,079 (GRCm39) |
C599Y |
probably damaging |
Het |
| Shisa6 |
C |
T |
11: 66,416,153 (GRCm39) |
R213Q |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,340,273 (GRCm39) |
Y232H |
probably damaging |
Het |
| Slx4 |
G |
A |
16: 3,797,953 (GRCm39) |
A1477V |
probably damaging |
Het |
| Ssrp1 |
T |
G |
2: 84,871,018 (GRCm39) |
I218S |
probably damaging |
Het |
| St6galnac1 |
A |
C |
11: 116,659,756 (GRCm39) |
S186A |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,880,965 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
T |
C |
2: 177,988,204 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,118,981 (GRCm39) |
I5867N |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,839 (GRCm39) |
D144E |
probably damaging |
Het |
| Tlcd5 |
A |
T |
9: 43,023,048 (GRCm39) |
M84K |
probably damaging |
Het |
| Tmem87b |
T |
A |
2: 128,673,153 (GRCm39) |
S196T |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,148,406 (GRCm39) |
I336T |
probably benign |
Het |
| Ttl |
A |
G |
2: 128,917,981 (GRCm39) |
I148V |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,649,970 (GRCm39) |
Y667H |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,119,171 (GRCm39) |
T152A |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,636 (GRCm39) |
V198E |
probably damaging |
Het |
| Vps52 |
T |
A |
17: 34,181,091 (GRCm39) |
F376L |
probably benign |
Het |
| Zfp1007 |
T |
C |
5: 109,824,754 (GRCm39) |
E232G |
probably benign |
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 |
|
|
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 |
|
R8991:Tnfrsf21
|
UTSW |
17 |
43,396,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GCTTGGATTCCTCAGCACCATCAC -3'
(R):5'- ATCACACTGGAAGGCACGTCAGAG -3'
Sequencing Primer
(F):5'- TGCTAACCTGCGACAAGTG -3'
(R):5'- ACTGCTTACAGCGCACAT -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation