Incidental Mutation 'R7253:Tnfrsf21'
| ID |
564108 |
| 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 |
045314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R7253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43348558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 57
(V57I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: V57I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: V57I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (74/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,391 (GRCm39) |
H199R |
not run |
Het |
| Ak9 |
A |
G |
10: 41,308,480 (GRCm39) |
N1804S |
unknown |
Het |
| Akr1c21 |
C |
A |
13: 4,627,139 (GRCm39) |
T147N |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,123,216 (GRCm39) |
T30A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,236,724 (GRCm39) |
D447G |
probably damaging |
Het |
| Amigo2 |
T |
C |
15: 97,142,956 (GRCm39) |
I489V |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,687,350 (GRCm39) |
Y322N |
probably damaging |
Het |
| Arhgap40 |
G |
T |
2: 158,389,576 (GRCm39) |
W583L |
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,916,084 (GRCm39) |
E430G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,034,104 (GRCm39) |
Y539C |
possibly damaging |
Het |
| C87436 |
T |
A |
6: 86,442,790 (GRCm39) |
L454Q |
probably damaging |
Het |
| Casp4 |
T |
G |
9: 5,324,868 (GRCm39) |
Y227D |
probably benign |
Het |
| Ccn6 |
T |
G |
10: 39,031,031 (GRCm39) |
N164T |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,083,555 (GRCm39) |
|
probably null |
Het |
| Chrna10 |
A |
G |
7: 101,761,293 (GRCm39) |
C433R |
probably benign |
Het |
| Cntln |
A |
T |
4: 85,036,710 (GRCm39) |
N214I |
probably damaging |
Het |
| Colec12 |
G |
A |
18: 9,848,922 (GRCm39) |
V367I |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,318,255 (GRCm39) |
I222T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,239,945 (GRCm39) |
|
probably null |
Het |
| Dcaf7 |
C |
A |
11: 105,938,669 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,602,164 (GRCm39) |
|
probably null |
Het |
| Fam184a |
G |
T |
10: 53,574,901 (GRCm39) |
T236K |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,661 (GRCm39) |
T451A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,452,944 (GRCm39) |
K484E |
possibly damaging |
Het |
| Hspbap1 |
G |
T |
16: 35,637,600 (GRCm39) |
C243F |
unknown |
Het |
| Hspg2 |
A |
C |
4: 137,247,257 (GRCm39) |
N1160T |
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,728 (GRCm39) |
L48F |
probably benign |
Het |
| Jazf1 |
C |
A |
6: 52,754,637 (GRCm39) |
E146D |
probably benign |
Het |
| Katnb1 |
C |
T |
8: 95,822,125 (GRCm39) |
Q284* |
probably null |
Het |
| Kctd18 |
G |
T |
1: 58,001,115 (GRCm39) |
Y213* |
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,664,213 (GRCm39) |
S23P |
possibly damaging |
Het |
| Krt88 |
T |
C |
15: 101,348,392 (GRCm39) |
L26P |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,522 (GRCm39) |
V623I |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,490,955 (GRCm39) |
M159L |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,242,326 (GRCm39) |
|
probably null |
Het |
| Mier1 |
G |
A |
4: 102,996,544 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
T |
C |
7: 78,431,207 (GRCm39) |
D117G |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,760 (GRCm39) |
S20G |
probably benign |
Het |
| Mup10 |
A |
T |
4: 60,538,077 (GRCm39) |
M4K |
unknown |
Het |
| Nlrp5 |
C |
T |
7: 23,116,816 (GRCm39) |
A180V |
possibly damaging |
Het |
| Nlrx1 |
T |
A |
9: 44,176,001 (GRCm39) |
|
probably null |
Het |
| Odad3 |
T |
C |
9: 21,913,767 (GRCm39) |
T2A |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,744 (GRCm39) |
F251L |
probably damaging |
Het |
| Or2t45 |
T |
C |
11: 58,669,822 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,969 (GRCm39) |
T36A |
possibly damaging |
Het |
| Or51aa2 |
C |
T |
7: 103,187,995 (GRCm39) |
A149T |
probably benign |
Het |
| Or5af2 |
T |
A |
11: 58,708,366 (GRCm39) |
C177* |
probably null |
Het |
| Or5ak22 |
A |
G |
2: 85,229,983 (GRCm39) |
I298T |
probably benign |
Het |
| Otud1 |
C |
A |
2: 19,663,742 (GRCm39) |
D290E |
probably damaging |
Het |
| Pank4 |
A |
G |
4: 155,055,377 (GRCm39) |
N249S |
probably benign |
Het |
| Pccb |
G |
T |
9: 100,913,966 (GRCm39) |
S84R |
probably benign |
Het |
| Pemt |
A |
T |
11: 59,862,081 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,970,856 (GRCm39) |
I634T |
possibly damaging |
Het |
| Pias2 |
T |
G |
18: 77,207,811 (GRCm39) |
I232R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,686,952 (GRCm39) |
E620G |
probably damaging |
Het |
| Pramel17 |
A |
T |
4: 101,692,725 (GRCm39) |
V425E |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,713,150 (GRCm39) |
E1758K |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,444,134 (GRCm39) |
Q1490L |
probably benign |
Het |
| Ptx3 |
G |
T |
3: 66,132,368 (GRCm39) |
M296I |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,317,644 (GRCm39) |
P464L |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,589,733 (GRCm39) |
E258G |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Senp8 |
T |
C |
9: 59,644,478 (GRCm39) |
N226S |
probably benign |
Het |
| Six5 |
C |
T |
7: 18,828,901 (GRCm39) |
R114C |
probably damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,004,958 (GRCm39) |
T195A |
probably benign |
Het |
| Slpi |
G |
T |
2: 164,197,467 (GRCm39) |
Q51K |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,570,256 (GRCm39) |
V753A |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 56,074,537 (GRCm39) |
M225I |
probably benign |
Het |
| Tent5a |
C |
A |
9: 85,208,770 (GRCm39) |
G18C |
probably benign |
Het |
| Trim44 |
G |
T |
2: 102,177,313 (GRCm39) |
P336T |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,633 (GRCm39) |
I264V |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,343,826 (GRCm39) |
E2022D |
probably benign |
Het |
| Zfp975 |
A |
G |
7: 42,311,036 (GRCm39) |
*526R |
probably null |
Het |
| Zp1 |
A |
G |
19: 10,893,933 (GRCm39) |
L424P |
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 |
|
|
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'- GCCAGATCTTGAACAGTGGTG -3'
(R):5'- GATGCACTCTCGGTCAGTCAAG -3'
Sequencing Primer
(F):5'- ATCTTGAACAGTGGTGATGACC -3'
(R):5'- ATCATCGGCCATGGACATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation