Incidental Mutation 'IGL03001:Tnfrsf21'
| ID |
407346 |
| 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: 0.175)
|
| Stock # |
IGL03001
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43398786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 631
(I631V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024708
AA Change: I631V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: I631V
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,761,042 (GRCm39) |
D1918A |
probably damaging |
Het |
| Ahcy |
C |
A |
2: 154,906,748 (GRCm39) |
D182Y |
probably damaging |
Het |
| Aldob |
T |
G |
4: 49,542,844 (GRCm39) |
D110A |
probably damaging |
Het |
| Alkbh8 |
A |
T |
9: 3,344,602 (GRCm39) |
M53L |
probably benign |
Het |
| Aqr |
T |
C |
2: 113,977,400 (GRCm39) |
D363G |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,650,455 (GRCm39) |
R815G |
probably damaging |
Het |
| Atf4 |
T |
A |
15: 80,140,858 (GRCm39) |
W83R |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,969,896 (GRCm39) |
M587K |
possibly damaging |
Het |
| Btbd8 |
T |
C |
5: 107,645,708 (GRCm39) |
I9T |
probably damaging |
Het |
| Cactin |
T |
A |
10: 81,161,568 (GRCm39) |
I700N |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,424,504 (GRCm39) |
S95G |
probably benign |
Het |
| Cd1d1 |
C |
T |
3: 86,905,468 (GRCm39) |
S175N |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,078,529 (GRCm39) |
A217E |
possibly damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,175,554 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
G |
A |
17: 58,362,634 (GRCm39) |
C329Y |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
| Col5a3 |
T |
A |
9: 20,719,040 (GRCm39) |
D238V |
unknown |
Het |
| Cuedc1 |
T |
C |
11: 88,073,315 (GRCm39) |
V160A |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,102,434 (GRCm39) |
V342A |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,126,123 (GRCm39) |
D1338G |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,710,891 (GRCm39) |
V433A |
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,545,374 (GRCm39) |
H179R |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,056,712 (GRCm39) |
|
probably benign |
Het |
| Flnb |
T |
C |
14: 7,934,680 (GRCm38) |
S2251P |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,820,968 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,716,113 (GRCm39) |
V735M |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,308,586 (GRCm39) |
|
probably benign |
Het |
| Lingo4 |
C |
T |
3: 94,309,703 (GRCm39) |
R214C |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,817,901 (GRCm39) |
R2329H |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,100,450 (GRCm39) |
L342P |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,094,845 (GRCm39) |
S240P |
probably damaging |
Het |
| Ndufaf4 |
T |
A |
4: 24,901,747 (GRCm39) |
N95K |
probably benign |
Het |
| Nms |
C |
T |
1: 38,980,993 (GRCm39) |
P60S |
probably benign |
Het |
| Npas3 |
A |
T |
12: 53,547,975 (GRCm39) |
Y77F |
probably damaging |
Het |
| Or2ak7 |
T |
G |
11: 58,574,702 (GRCm39) |
M1R |
probably null |
Het |
| Or51f5 |
G |
T |
7: 102,424,460 (GRCm39) |
C243F |
probably damaging |
Het |
| Or5d43 |
T |
A |
2: 88,105,189 (GRCm39) |
D68V |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,789,374 (GRCm39) |
M301V |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,493 (GRCm39) |
Y13N |
probably benign |
Het |
| Or9s27 |
T |
A |
1: 92,516,273 (GRCm39) |
S74T |
probably damaging |
Het |
| Picalm |
T |
C |
7: 89,831,454 (GRCm39) |
V429A |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,421,400 (GRCm39) |
I3056N |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,134,338 (GRCm39) |
M286I |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,189,881 (GRCm39) |
Y176F |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,386,410 (GRCm39) |
M192K |
probably benign |
Het |
| Psma1 |
C |
A |
7: 113,865,674 (GRCm39) |
A219S |
probably benign |
Het |
| Rad21l |
T |
G |
2: 151,510,389 (GRCm39) |
H22P |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,370,767 (GRCm39) |
T4791A |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,712,452 (GRCm39) |
V1609A |
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,291,057 (GRCm39) |
S606T |
probably benign |
Het |
| Slc16a4 |
A |
T |
3: 107,218,858 (GRCm39) |
R486S |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,040,767 (GRCm39) |
L331P |
probably damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,184,159 (GRCm39) |
V164D |
probably damaging |
Het |
| Slc38a6 |
A |
G |
12: 73,383,827 (GRCm39) |
I173V |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,873,604 (GRCm39) |
T1121A |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,426,302 (GRCm39) |
D83G |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,455 (GRCm39) |
T70A |
probably damaging |
Het |
| Tor2a |
C |
A |
2: 32,647,329 (GRCm39) |
H6Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,565,267 (GRCm39) |
N19993S |
probably benign |
Het |
| Vps53 |
T |
C |
11: 76,029,150 (GRCm39) |
E119G |
probably damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,705,495 (GRCm39) |
W69R |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,900,002 (GRCm39) |
K301E |
probably benign |
Het |
| Zswim8 |
T |
C |
14: 20,764,459 (GRCm39) |
S610P |
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 |
|
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 |
2016-08-02 |
Incidental Mutation