Incidental Mutation 'R8865:Tnfrsf21'
ID |
675899 |
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 |
068681-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R8865 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43396372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 552
(D552G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
AlphaFold |
Q9EPU5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024708
AA Change: D552G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024708 Gene: ENSMUSG00000023915 AA Change: D552G
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: 98.9%
|
Validation Efficiency |
100% (72/72) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,672,571 (GRCm39) |
Y606* |
probably null |
Het |
Adgrb1 |
A |
G |
15: 74,415,507 (GRCm39) |
I696V |
possibly damaging |
Het |
Ass1 |
A |
G |
2: 31,410,407 (GRCm39) |
Q406R |
probably benign |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Ccdc148 |
T |
C |
2: 58,719,832 (GRCm39) |
K409R |
possibly damaging |
Het |
Ccnl1 |
A |
T |
3: 65,854,269 (GRCm39) |
S451T |
probably benign |
Het |
Cdc123 |
T |
C |
2: 5,800,235 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
C |
18: 67,967,703 (GRCm39) |
V729A |
probably benign |
Het |
Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,685,822 (GRCm39) |
K898E |
probably damaging |
Het |
Chrng |
T |
C |
1: 87,135,219 (GRCm39) |
V154A |
probably damaging |
Het |
Cog1 |
T |
G |
11: 113,549,324 (GRCm39) |
M799R |
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,647,483 (GRCm39) |
|
probably null |
Het |
Coro6 |
C |
A |
11: 77,359,917 (GRCm39) |
T366K |
probably damaging |
Het |
Cwh43 |
G |
A |
5: 73,598,702 (GRCm39) |
M640I |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,019,878 (GRCm39) |
E272G |
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,702,271 (GRCm39) |
Y256C |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,530,281 (GRCm39) |
R229* |
probably null |
Het |
Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
En1 |
G |
T |
1: 120,530,729 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
A |
3: 121,523,060 (GRCm39) |
V90E |
probably damaging |
Het |
Fam171a1 |
A |
G |
2: 3,226,940 (GRCm39) |
K691R |
probably damaging |
Het |
Foxp2 |
C |
T |
6: 15,415,093 (GRCm39) |
A609V |
unknown |
Het |
Hemgn |
A |
T |
4: 46,396,682 (GRCm39) |
S185T |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,151,294 (GRCm39) |
D33N |
probably benign |
Het |
Igfbp1 |
T |
A |
11: 7,151,929 (GRCm39) |
V244D |
probably damaging |
Het |
Insr |
A |
T |
8: 3,211,358 (GRCm39) |
D1160E |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,265,830 (GRCm39) |
Y795* |
probably null |
Het |
Krtap28-10 |
T |
C |
1: 83,019,808 (GRCm39) |
K111E |
unknown |
Het |
Lbx1 |
T |
G |
19: 45,223,605 (GRCm39) |
D21A |
probably benign |
Het |
Map6 |
G |
T |
7: 98,918,192 (GRCm39) |
A322S |
probably benign |
Het |
Mat1a |
T |
C |
14: 40,843,788 (GRCm39) |
Y336H |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 12,930,003 (GRCm39) |
I8V |
probably benign |
Het |
Med12l |
T |
C |
3: 58,979,303 (GRCm39) |
V276A |
probably benign |
Het |
Mettl17 |
A |
G |
14: 52,122,308 (GRCm39) |
|
probably benign |
Het |
Mllt1 |
T |
C |
17: 57,207,295 (GRCm39) |
D183G |
possibly damaging |
Het |
Msmb |
T |
A |
14: 31,872,217 (GRCm39) |
C69* |
probably null |
Het |
Mterf1a |
A |
G |
5: 3,941,425 (GRCm39) |
S148P |
probably damaging |
Het |
Mybl2 |
A |
G |
2: 162,922,653 (GRCm39) |
I583V |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,455,520 (GRCm39) |
D91E |
probably benign |
Het |
Notch3 |
A |
G |
17: 32,341,090 (GRCm39) |
Y2221H |
probably benign |
Het |
Npat |
C |
A |
9: 53,481,940 (GRCm39) |
T1216N |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,215,115 (GRCm39) |
L226P |
probably damaging |
Het |
Or2j3 |
T |
A |
17: 38,615,872 (GRCm39) |
H160L |
probably damaging |
Het |
Or8k35 |
C |
A |
2: 86,424,744 (GRCm39) |
V143F |
possibly damaging |
Het |
Pawr |
T |
A |
10: 108,218,603 (GRCm39) |
Y170N |
probably damaging |
Het |
Pde12 |
T |
C |
14: 26,390,280 (GRCm39) |
D143G |
possibly damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,476 (GRCm39) |
I264T |
probably benign |
Het |
Pip5k1b |
A |
G |
19: 24,374,422 (GRCm39) |
L53P |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,818,520 (GRCm39) |
I251T |
probably benign |
Het |
Plcxd1 |
A |
T |
5: 110,249,841 (GRCm39) |
|
probably benign |
Het |
Polr3c |
C |
T |
3: 96,622,517 (GRCm39) |
|
probably benign |
Het |
Pramel4 |
G |
C |
4: 143,795,052 (GRCm39) |
G483R |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,238,693 (GRCm39) |
L195P |
probably damaging |
Het |
Prss16 |
A |
T |
13: 22,187,175 (GRCm39) |
L465Q |
possibly damaging |
Het |
Psg25 |
G |
T |
7: 18,263,519 (GRCm39) |
H101Q |
possibly damaging |
Het |
Pstpip2 |
A |
G |
18: 77,934,108 (GRCm39) |
D55G |
possibly damaging |
Het |
Rfc1 |
A |
T |
5: 65,436,135 (GRCm39) |
D636E |
possibly damaging |
Het |
Scarf2 |
G |
T |
16: 17,620,974 (GRCm39) |
C214F |
probably damaging |
Het |
Sirt4 |
T |
C |
5: 115,620,704 (GRCm39) |
E156G |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,738,928 (GRCm39) |
S286L |
probably benign |
Het |
Stx17 |
T |
A |
4: 48,183,444 (GRCm39) |
H267Q |
unknown |
Het |
Tekt3 |
T |
C |
11: 62,961,058 (GRCm39) |
C76R |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,538,281 (GRCm39) |
V1807E |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,560,664 (GRCm39) |
V29246L |
possibly damaging |
Het |
Usp43 |
C |
A |
11: 67,789,788 (GRCm39) |
C252F |
probably damaging |
Het |
Vmn2r16 |
T |
C |
5: 109,487,910 (GRCm39) |
I261T |
probably benign |
Het |
Vwa5b1 |
T |
C |
4: 138,308,530 (GRCm39) |
E769G |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,873,246 (GRCm39) |
F670Y |
probably benign |
Het |
Ypel1 |
T |
C |
16: 16,915,269 (GRCm39) |
N113S |
probably benign |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zdhhc14 |
A |
T |
17: 5,775,570 (GRCm39) |
Y274F |
possibly damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,139 (GRCm39) |
M973L |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,954,035 (GRCm39) |
V1380A |
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 |
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 |
|
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'- TAAAGGAGGAGGGTTTAGCTTC -3'
(R):5'- GGACACTTTCATCTTGGAGGTC -3'
Sequencing Primer
(F):5'- AAGGAGGAGGGTTTAGCTTCATTTTG -3'
(R):5'- GGAGGTCTCCCTAAACAGCTCAG -3'
|
Posted On |
2021-07-15 |