Incidental Mutation 'R0550:Tnfrsf21'
| ID |
45126 |
| 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 |
038742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R0550 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43349104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 239
(H239Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: H239Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: H239Y
| 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 |
0.0680 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
99% (76/77) |
| 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 |
|---|
| Abca5 |
A |
T |
11: 110,184,666 (GRCm39) |
Y947N |
probably damaging |
Het |
| Acss3 |
C |
A |
10: 106,889,332 (GRCm39) |
G163C |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,392,884 (GRCm39) |
T1367A |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 69,130,480 (GRCm39) |
S136T |
probably benign |
Het |
| Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
| Aldh16a1 |
C |
T |
7: 44,795,653 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
C |
11: 5,557,429 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
C |
2: 113,963,457 (GRCm39) |
N664K |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,683,173 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
C |
T |
3: 89,866,368 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
C |
16: 50,094,896 (GRCm39) |
|
probably benign |
Het |
| Bmper |
T |
A |
9: 23,285,181 (GRCm39) |
D243E |
probably benign |
Het |
| Casz1 |
GCCACCACCACCACCACCACCAC |
GCCACCACCACCACCACCAC |
4: 149,036,741 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,970,427 (GRCm39) |
|
probably null |
Het |
| Ccdc92b |
T |
A |
11: 74,520,771 (GRCm39) |
|
probably null |
Het |
| Cd2bp2 |
G |
T |
7: 126,792,996 (GRCm39) |
T342K |
probably damaging |
Het |
| Clrn3 |
T |
A |
7: 135,130,154 (GRCm39) |
I27F |
possibly damaging |
Het |
| Cnih3 |
TTGACGAG |
T |
1: 181,234,042 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
T |
C |
13: 64,909,814 (GRCm39) |
T764A |
possibly damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,435,308 (GRCm39) |
K183N |
possibly damaging |
Het |
| Cwc27 |
G |
A |
13: 104,941,457 (GRCm39) |
P155L |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,372,753 (GRCm39) |
S389P |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,483,104 (GRCm39) |
K561E |
probably benign |
Het |
| Dkk3 |
A |
G |
7: 111,757,452 (GRCm39) |
F51L |
probably damaging |
Het |
| Dnai1 |
C |
T |
4: 41,596,274 (GRCm39) |
R20* |
probably null |
Het |
| Dr1 |
G |
A |
5: 108,417,471 (GRCm39) |
G6S |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,120,954 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,961,067 (GRCm39) |
Y16C |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,702,924 (GRCm39) |
I464T |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,993,608 (GRCm39) |
K546E |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,305,429 (GRCm39) |
D315G |
probably damaging |
Het |
| Fads6 |
A |
G |
11: 115,187,503 (GRCm39) |
I64T |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,352,553 (GRCm39) |
N107S |
probably benign |
Het |
| Gbp11 |
A |
T |
5: 105,491,616 (GRCm39) |
N60K |
probably benign |
Het |
| Gm2a |
C |
T |
11: 54,994,491 (GRCm39) |
Q54* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,314,407 (GRCm39) |
D4297G |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,611,648 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,723,966 (GRCm39) |
H499Q |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,648,924 (GRCm39) |
K956R |
possibly damaging |
Het |
| Krt74 |
G |
A |
15: 101,669,114 (GRCm39) |
|
noncoding transcript |
Het |
| Map3k9 |
A |
T |
12: 81,772,555 (GRCm39) |
L649Q |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,730,479 (GRCm39) |
D2871G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,900,649 (GRCm39) |
T294A |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,471,226 (GRCm39) |
V252I |
probably benign |
Het |
| Nectin3 |
A |
G |
16: 46,279,183 (GRCm39) |
I265T |
possibly damaging |
Het |
| Opn1sw |
A |
T |
6: 29,380,203 (GRCm39) |
L71Q |
probably damaging |
Het |
| Or4c12 |
A |
G |
2: 89,773,733 (GRCm39) |
I242T |
probably damaging |
Het |
| Or52m1 |
G |
A |
7: 102,290,157 (GRCm39) |
E235K |
possibly damaging |
Het |
| Or5aq6 |
G |
T |
2: 86,923,473 (GRCm39) |
H89Q |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,879,164 (GRCm39) |
|
probably null |
Het |
| Or5k17 |
A |
G |
16: 58,746,748 (GRCm39) |
F62S |
probably damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,676 (GRCm39) |
C162S |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,276,220 (GRCm39) |
Y35* |
probably null |
Het |
| Pced1a |
G |
A |
2: 130,261,553 (GRCm39) |
P367S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,417,447 (GRCm39) |
M2568K |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,255,694 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
T |
C |
13: 112,971,519 (GRCm39) |
I62T |
probably benign |
Het |
| Polr3g |
G |
A |
13: 81,842,892 (GRCm39) |
T41I |
probably damaging |
Het |
| Ptch2 |
T |
C |
4: 116,953,630 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,986,104 (GRCm39) |
H315L |
probably benign |
Het |
| Setd1b |
G |
T |
5: 123,295,723 (GRCm39) |
S1097I |
unknown |
Het |
| Sfxn4 |
A |
G |
19: 60,839,383 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,857,128 (GRCm39) |
E1237G |
probably damaging |
Het |
| Slc25a38 |
A |
T |
9: 119,952,709 (GRCm39) |
N287I |
probably benign |
Het |
| Slc25a48 |
A |
G |
13: 56,596,811 (GRCm39) |
T31A |
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
| Slc8b1 |
A |
G |
5: 120,669,220 (GRCm39) |
|
probably benign |
Het |
| Slco4c1 |
A |
C |
1: 96,795,584 (GRCm39) |
V158G |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,063,803 (GRCm39) |
T2208A |
probably benign |
Het |
| Srebf1 |
G |
A |
11: 60,092,502 (GRCm39) |
T843I |
probably benign |
Het |
| Srl |
A |
G |
16: 4,305,429 (GRCm39) |
W101R |
probably damaging |
Het |
| St6galnac4 |
T |
A |
2: 32,484,031 (GRCm39) |
C76* |
probably null |
Het |
| Tdrd3 |
C |
A |
14: 87,723,656 (GRCm39) |
T290K |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,965,176 (GRCm39) |
E1547G |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,880,484 (GRCm39) |
|
probably null |
Het |
| Usp10 |
T |
A |
8: 120,674,540 (GRCm39) |
I456K |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,405,134 (GRCm39) |
|
probably benign |
Het |
| Vit |
T |
A |
17: 78,932,222 (GRCm39) |
V443E |
possibly damaging |
Het |
| Whamm |
G |
A |
7: 81,235,972 (GRCm39) |
V392I |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,112,927 (GRCm39) |
T356S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAAGCTCACACGGACTGTCTGG -3'
(R):5'- GCTCCATCTACACACGATTAGCTCC -3'
Sequencing Primer
(F):5'- GGACTGTCTGGGTCAGAAC -3'
(R):5'- acaactaaaatcactcaactcactc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation