Incidental Mutation 'IGL01934:Tnfrsf21'
| ID |
180565 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfrsf21
|
| Ensembl Gene |
ENSMUSG00000023915 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 21 |
| Synonyms |
TR7, Death receptor 6, DR6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL01934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43376078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 488
(N488I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: N488I
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: N488I
| 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 |
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,823,112 (GRCm39) |
K362E |
probably damaging |
Het |
| 4932438H23Rik |
T |
A |
16: 90,852,753 (GRCm39) |
T128S |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,774,650 (GRCm39) |
I593N |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,079,481 (GRCm39) |
N1224K |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,191 (GRCm39) |
|
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,770,048 (GRCm39) |
L35P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,980,021 (GRCm39) |
L435Q |
probably damaging |
Het |
| Ankef1 |
A |
G |
2: 136,394,451 (GRCm39) |
E620G |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,695 (GRCm39) |
I568F |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,545,092 (GRCm39) |
L1082* |
probably null |
Het |
| Atp6v0a4 |
T |
A |
6: 38,028,481 (GRCm39) |
I712F |
possibly damaging |
Het |
| Bco1 |
T |
A |
8: 117,822,784 (GRCm39) |
F5L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,285,729 (GRCm39) |
S794C |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,628,304 (GRCm39) |
|
probably null |
Het |
| Capn15 |
T |
C |
17: 26,181,998 (GRCm39) |
T604A |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,839,366 (GRCm39) |
D83V |
probably damaging |
Het |
| Ces1a |
C |
A |
8: 93,759,278 (GRCm39) |
R286L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,575,858 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
G |
2: 145,773,202 (GRCm39) |
V148A |
probably benign |
Het |
| Epas1 |
A |
T |
17: 87,131,157 (GRCm39) |
K312N |
probably damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,712,618 (GRCm39) |
S148G |
probably damaging |
Het |
| Fig4 |
T |
C |
10: 41,104,108 (GRCm39) |
T791A |
probably benign |
Het |
| Galnt9 |
A |
T |
5: 110,750,502 (GRCm39) |
I340F |
possibly damaging |
Het |
| Gfap |
G |
A |
11: 102,785,286 (GRCm39) |
A230V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm454 |
T |
C |
5: 138,205,424 (GRCm39) |
|
noncoding transcript |
Het |
| Il24 |
A |
T |
1: 130,811,614 (GRCm39) |
L115Q |
probably damaging |
Het |
| Ipp |
C |
A |
4: 116,367,852 (GRCm39) |
N28K |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,018,882 (GRCm39) |
|
probably null |
Het |
| Klf10 |
C |
T |
15: 38,297,528 (GRCm39) |
V171M |
probably benign |
Het |
| Man1b1 |
T |
C |
2: 25,235,523 (GRCm39) |
S350P |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,974,049 (GRCm39) |
Y343C |
probably damaging |
Het |
| Mrpl58 |
C |
A |
11: 115,301,555 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,134,394 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,339,880 (GRCm39) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,696 (GRCm39) |
|
probably benign |
Het |
| Or1o2 |
A |
T |
17: 37,542,439 (GRCm39) |
V274D |
probably damaging |
Het |
| Or52z14 |
T |
C |
7: 103,253,182 (GRCm39) |
F107S |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,368 (GRCm39) |
I224V |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,187,760 (GRCm39) |
C352* |
probably null |
Het |
| Ptf1a |
T |
A |
2: 19,451,431 (GRCm39) |
C254S |
possibly damaging |
Het |
| R3hdm1 |
G |
T |
1: 128,164,272 (GRCm39) |
R1062L |
probably benign |
Het |
| Rnf44 |
A |
G |
13: 54,829,763 (GRCm39) |
V407A |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,434,049 (GRCm39) |
L1598P |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,395,747 (GRCm39) |
S717P |
possibly damaging |
Het |
| Tdpoz4 |
A |
G |
3: 93,704,779 (GRCm39) |
K359E |
probably damaging |
Het |
| Tmtc4 |
A |
T |
14: 123,165,047 (GRCm39) |
L604* |
probably null |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,747 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,575,019 (GRCm39) |
L382M |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,931,355 (GRCm39) |
C18R |
probably damaging |
Het |
| Ugt8a |
A |
G |
3: 125,708,424 (GRCm39) |
S229P |
probably benign |
Het |
| Usp22 |
T |
C |
11: 61,046,114 (GRCm39) |
E476G |
probably damaging |
Het |
| Vill |
G |
T |
9: 118,895,877 (GRCm39) |
A146S |
probably damaging |
Het |
| Vmn1r178 |
T |
C |
7: 23,593,362 (GRCm39) |
Y137H |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,717,833 (GRCm39) |
W51R |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,296,768 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
A |
T |
18: 82,651,245 (GRCm39) |
V889E |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,486,277 (GRCm39) |
D141G |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation