Incidental Mutation 'R4510:Tnfrsf21'
ID |
331235 |
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 |
041585-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R4510 (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 43375910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 432
(D432G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
AlphaFold |
Q9EPU5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024708
AA Change: D432G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024708 Gene: ENSMUSG00000023915 AA Change: D432G
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 |
0.5787 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
96% (50/52) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,100,819 (GRCm39) |
D397E |
probably benign |
Het |
Abcc10 |
A |
G |
17: 46,618,136 (GRCm39) |
F1005L |
probably damaging |
Het |
Ackr4 |
T |
C |
9: 103,975,930 (GRCm39) |
E339G |
probably benign |
Het |
Adam39 |
G |
T |
8: 41,279,328 (GRCm39) |
C573F |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,346,652 (GRCm39) |
T651A |
probably benign |
Het |
Aoc1 |
C |
A |
6: 48,884,740 (GRCm39) |
H594Q |
probably damaging |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Atp4a |
G |
T |
7: 30,423,678 (GRCm39) |
E928* |
probably null |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,320,629 (GRCm39) |
T206A |
probably damaging |
Het |
Atrn |
G |
A |
2: 130,777,497 (GRCm39) |
W182* |
probably null |
Het |
Bltp2 |
T |
C |
11: 78,168,154 (GRCm39) |
S1530P |
possibly damaging |
Het |
Cacna1e |
G |
A |
1: 154,437,579 (GRCm39) |
T257I |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,961,938 (GRCm39) |
Y345C |
probably benign |
Het |
Cyp26b1 |
G |
A |
6: 84,551,473 (GRCm39) |
R248W |
probably damaging |
Het |
Dclk3 |
C |
A |
9: 111,297,060 (GRCm39) |
H201Q |
probably benign |
Het |
Ddx17 |
A |
T |
15: 79,422,793 (GRCm39) |
V315E |
probably damaging |
Het |
Dhrs11 |
T |
C |
11: 84,716,342 (GRCm39) |
*51W |
probably null |
Het |
Fgfr4 |
C |
A |
13: 55,309,328 (GRCm39) |
P455Q |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,103 (GRCm39) |
K697E |
probably damaging |
Het |
Gcnt1 |
G |
A |
19: 17,307,641 (GRCm39) |
T28I |
probably benign |
Het |
Gga2 |
G |
A |
7: 121,620,301 (GRCm39) |
T4M |
unknown |
Het |
Gm12185 |
T |
A |
11: 48,799,305 (GRCm39) |
H396L |
possibly damaging |
Het |
Gm21976 |
A |
G |
13: 98,441,839 (GRCm39) |
R123G |
probably benign |
Het |
Hecw1 |
A |
C |
13: 14,531,776 (GRCm39) |
V166G |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,295 (GRCm39) |
V372A |
possibly damaging |
Het |
Igkv2-109 |
A |
G |
6: 68,279,962 (GRCm39) |
Y61C |
probably damaging |
Het |
Igsf1 |
A |
G |
X: 48,875,050 (GRCm39) |
F789S |
probably damaging |
Het |
Il4ra |
A |
G |
7: 125,175,280 (GRCm39) |
D496G |
possibly damaging |
Het |
Ilf3 |
A |
G |
9: 21,310,511 (GRCm39) |
T547A |
possibly damaging |
Het |
Insrr |
C |
A |
3: 87,715,978 (GRCm39) |
P558T |
possibly damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Irak3 |
T |
A |
10: 119,981,813 (GRCm39) |
H393L |
probably damaging |
Het |
Isx |
G |
A |
8: 75,600,298 (GRCm39) |
M10I |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,668,870 (GRCm39) |
D709G |
probably damaging |
Het |
Kcng2 |
G |
T |
18: 80,338,930 (GRCm39) |
R453S |
probably benign |
Het |
Kif5b |
A |
G |
18: 6,214,011 (GRCm39) |
V664A |
probably benign |
Het |
Lalba |
A |
G |
15: 98,380,422 (GRCm39) |
L44P |
probably benign |
Het |
Ldlrad1 |
T |
G |
4: 107,066,715 (GRCm39) |
F17V |
probably benign |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,429,717 (GRCm39) |
Y451C |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,310,406 (GRCm39) |
N2722K |
possibly damaging |
Het |
Mctp1 |
G |
A |
13: 76,973,391 (GRCm39) |
V431I |
probably benign |
Het |
Mmrn2 |
T |
C |
14: 34,125,016 (GRCm39) |
F866L |
possibly damaging |
Het |
Mylk2 |
A |
G |
2: 152,759,330 (GRCm39) |
E367G |
probably damaging |
Het |
Nfatc1 |
A |
G |
18: 80,678,794 (GRCm39) |
S865P |
probably damaging |
Het |
Nol6 |
G |
C |
4: 41,123,526 (GRCm39) |
T74R |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,053,637 (GRCm39) |
M2100T |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,418,841 (GRCm39) |
K667R |
possibly damaging |
Het |
Phlda3 |
A |
G |
1: 135,694,400 (GRCm39) |
T72A |
probably damaging |
Het |
Polg |
T |
C |
7: 79,105,270 (GRCm39) |
Q758R |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,757 (GRCm39) |
M243L |
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,439,762 (GRCm39) |
D355G |
possibly damaging |
Het |
Prpf8 |
T |
C |
11: 75,382,652 (GRCm39) |
Y398H |
probably damaging |
Het |
Ripk1 |
T |
C |
13: 34,210,731 (GRCm39) |
Y309H |
probably damaging |
Het |
Rngtt |
A |
T |
4: 33,339,032 (GRCm39) |
Q279L |
possibly damaging |
Het |
Rusf1 |
A |
T |
7: 127,875,312 (GRCm39) |
F319Y |
probably damaging |
Het |
Samd4 |
T |
A |
14: 47,315,042 (GRCm39) |
V114D |
probably benign |
Het |
Sec23ip |
G |
A |
7: 128,380,900 (GRCm39) |
E956K |
probably damaging |
Het |
Slc4a1ap |
A |
T |
5: 31,684,747 (GRCm39) |
T128S |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,834,858 (GRCm39) |
I6F |
probably benign |
Het |
Slc6a19 |
A |
C |
13: 73,832,094 (GRCm39) |
L494R |
probably damaging |
Het |
Slc6a21 |
A |
G |
7: 44,936,713 (GRCm39) |
D189G |
probably damaging |
Het |
Slc7a1 |
G |
T |
5: 148,277,372 (GRCm39) |
A381D |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,923,980 (GRCm39) |
|
probably null |
Het |
Stk19 |
T |
C |
17: 35,051,504 (GRCm39) |
E17G |
probably damaging |
Het |
Tekt5 |
A |
C |
16: 10,175,877 (GRCm39) |
V556G |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,544,070 (GRCm39) |
F2029L |
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,236 (GRCm39) |
V330A |
probably damaging |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Tnrc6c |
A |
T |
11: 117,633,784 (GRCm39) |
N1294I |
possibly damaging |
Het |
Trpm3 |
A |
G |
19: 22,965,381 (GRCm39) |
I1625M |
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,773 (GRCm39) |
V25040E |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,633,853 (GRCm39) |
N19D |
possibly damaging |
Het |
Washc2 |
A |
T |
6: 116,197,517 (GRCm39) |
D250V |
probably damaging |
Het |
Xpo1 |
A |
G |
11: 23,237,401 (GRCm39) |
T755A |
possibly damaging |
Het |
Zfp462 |
C |
T |
4: 55,008,934 (GRCm39) |
T300I |
possibly damaging |
Het |
Zfp937 |
A |
C |
2: 150,080,431 (GRCm39) |
T154P |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,778,996 (GRCm39) |
D1819G |
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 |
|
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 |
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'- CCATGATGGGCTGTGTATATGC -3'
(R):5'- TGGAGGGCTGACATTACCTG -3'
Sequencing Primer
(F):5'- ATGGGCTGTGTATATGCCAATTAC -3'
(R):5'- GCTGACATTACCTGCGTGG -3'
|
Posted On |
2015-07-21 |