Incidental Mutation 'R4721:Tnfrsf21'
| ID |
354501 |
| 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 |
041986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R4721 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43396395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 560
(C560R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024708
AA Change: C560R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: C560R
| 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 |
0.2684 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (90/92) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,107 (GRCm39) |
D286G |
probably benign |
Het |
| Abca15 |
G |
A |
7: 119,949,998 (GRCm39) |
E491K |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,268,962 (GRCm39) |
T208A |
probably benign |
Het |
| Adamts10 |
T |
A |
17: 33,764,511 (GRCm39) |
|
probably null |
Het |
| Ahcyl1 |
T |
C |
3: 107,577,233 (GRCm39) |
Q313R |
possibly damaging |
Het |
| Ccdc71 |
C |
T |
9: 108,340,622 (GRCm39) |
S145L |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,812,119 (GRCm39) |
T472A |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,931,841 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
C |
A |
10: 43,873,883 (GRCm39) |
R1075L |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,832,809 (GRCm39) |
K84* |
probably null |
Het |
| Ddx59 |
C |
T |
1: 136,344,844 (GRCm39) |
P172S |
probably benign |
Het |
| Dhx34 |
T |
A |
7: 15,931,307 (GRCm39) |
Q1118L |
possibly damaging |
Het |
| Dkkl1 |
T |
A |
7: 44,857,232 (GRCm39) |
I112F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,944,140 (GRCm39) |
C1786S |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,788,525 (GRCm39) |
D520V |
possibly damaging |
Het |
| Ergic1 |
T |
A |
17: 26,857,750 (GRCm39) |
V192E |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,941,262 (GRCm39) |
E1343G |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm15446 |
C |
T |
5: 110,090,866 (GRCm39) |
H373Y |
probably damaging |
Het |
| Gpr157 |
A |
T |
4: 150,183,420 (GRCm39) |
N197Y |
probably benign |
Het |
| Grid2 |
G |
A |
6: 64,643,185 (GRCm39) |
M982I |
probably benign |
Het |
| Hey2 |
G |
T |
10: 30,710,304 (GRCm39) |
R150S |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,648,322 (GRCm39) |
|
probably null |
Het |
| Ighv3-3 |
G |
A |
12: 114,160,156 (GRCm39) |
R85* |
probably null |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
| Igsf21 |
A |
G |
4: 139,834,621 (GRCm39) |
S84P |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,915,773 (GRCm39) |
T517A |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,385,863 (GRCm39) |
E244G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,390,928 (GRCm39) |
T2990A |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 40,605,381 (GRCm39) |
|
probably null |
Het |
| Lrrc42 |
A |
T |
4: 107,091,050 (GRCm39) |
S382T |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,739,467 (GRCm39) |
R737W |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,652,623 (GRCm39) |
L267P |
probably damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,223 (GRCm39) |
Q727L |
possibly damaging |
Het |
| Mzf1 |
C |
T |
7: 12,777,448 (GRCm39) |
R652Q |
possibly damaging |
Het |
| Nkain3 |
C |
T |
4: 20,485,015 (GRCm39) |
A21T |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,521 (GRCm39) |
V336E |
possibly damaging |
Het |
| Nptn |
C |
T |
9: 58,548,059 (GRCm39) |
R155C |
probably damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,116,828 (GRCm39) |
I10T |
possibly damaging |
Het |
| Or12e13 |
T |
A |
2: 87,663,515 (GRCm39) |
I44N |
probably damaging |
Het |
| Or1e26 |
C |
T |
11: 73,480,273 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
| Pdzk1 |
G |
T |
3: 96,776,518 (GRCm39) |
E493* |
probably null |
Het |
| Plekhh1 |
GTCAAA |
G |
12: 79,122,194 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
C |
10: 84,491,867 (GRCm39) |
V342A |
possibly damaging |
Het |
| Prg3 |
T |
C |
2: 84,821,750 (GRCm39) |
V125A |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,542,160 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
A |
G |
2: 131,846,358 (GRCm39) |
V133A |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Rbpjl |
A |
C |
2: 164,246,447 (GRCm39) |
S31R |
probably benign |
Het |
| Reln |
A |
G |
5: 22,124,220 (GRCm39) |
V2762A |
probably damaging |
Het |
| Rxrg |
T |
A |
1: 167,452,621 (GRCm39) |
I141N |
probably damaging |
Het |
| Scn7a |
C |
A |
2: 66,514,529 (GRCm39) |
G1082C |
probably damaging |
Het |
| Selenon |
C |
A |
4: 134,270,387 (GRCm39) |
E322* |
probably null |
Het |
| Sipa1 |
C |
T |
19: 5,710,413 (GRCm39) |
R199Q |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,510,261 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
T |
C |
9: 44,312,787 (GRCm39) |
S314P |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,111,543 (GRCm39) |
I59V |
probably benign |
Het |
| Stk19 |
T |
C |
17: 35,042,120 (GRCm39) |
|
probably null |
Het |
| Susd2 |
C |
T |
10: 75,473,964 (GRCm39) |
D544N |
probably benign |
Het |
| Tcf7l2 |
G |
T |
19: 55,919,886 (GRCm39) |
R465L |
possibly damaging |
Het |
| Tfap2d |
T |
A |
1: 19,174,984 (GRCm39) |
S146T |
possibly damaging |
Het |
| Tmem156 |
A |
G |
5: 65,248,870 (GRCm39) |
F10S |
probably benign |
Het |
| Tmem63c |
G |
T |
12: 87,103,954 (GRCm39) |
A68S |
possibly damaging |
Het |
| Trav10n |
C |
T |
14: 53,359,590 (GRCm39) |
T7I |
probably benign |
Het |
| Ttc38 |
C |
T |
15: 85,722,947 (GRCm39) |
R132W |
probably benign |
Het |
| Tvp23a |
T |
C |
16: 10,245,275 (GRCm39) |
K108R |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,879 (GRCm39) |
M24V |
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,912,451 (GRCm39) |
L269* |
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,287 (GRCm39) |
M761K |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,910,864 (GRCm39) |
Q3543* |
probably null |
Het |
| Wdr37 |
T |
C |
13: 8,904,065 (GRCm39) |
E101G |
possibly damaging |
Het |
| Zc3hc1 |
A |
G |
6: 30,374,899 (GRCm39) |
V214A |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,948,728 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
T |
1: 63,347,951 (GRCm39) |
Q2110L |
possibly damaging |
Het |
| Zfp516 |
T |
G |
18: 82,975,236 (GRCm39) |
L478R |
possibly 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 |
|
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'- TCCGCAGTTGGAAACAGAC -3'
(R):5'- CTGGATAGGGCACAGTTGTAAAGAC -3'
Sequencing Primer
(F):5'- CAAACTGGCTCTCCCCATGAG -3'
(R):5'- GGGCACAGTTGTAAAGACTTTCTAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation