Incidental Mutation 'R0522:Tnfrsf21'
| ID |
48661 |
| 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 |
038715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R0522 (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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
A |
G |
8: 84,456,805 (GRCm39) |
I192T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,874,648 (GRCm39) |
Y982H |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,561 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,598,597 (GRCm39) |
V1610A |
probably benign |
Het |
| Ankrd24 |
T |
C |
10: 81,472,189 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,044,429 (GRCm39) |
N337S |
probably benign |
Het |
| Cdc40 |
T |
C |
10: 40,733,608 (GRCm39) |
Y114C |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,815,957 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
G |
A |
1: 34,576,234 (GRCm39) |
C98Y |
probably damaging |
Het |
| Cyp11b2 |
A |
T |
15: 74,723,533 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
C |
A |
15: 78,499,985 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Degs1l |
A |
C |
1: 180,887,312 (GRCm39) |
D299A |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,157,365 (GRCm39) |
K80R |
probably benign |
Het |
| Dnajb5 |
G |
T |
4: 42,957,083 (GRCm39) |
D257Y |
probably damaging |
Het |
| Dynll1 |
T |
C |
5: 115,438,565 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,458,430 (GRCm39) |
V81E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,039,332 (GRCm39) |
S1981P |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,400 (GRCm39) |
M309L |
probably benign |
Het |
| Gm14221 |
G |
A |
2: 160,416,597 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,267,328 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
16: 36,735,567 (GRCm39) |
|
probably null |
Het |
| Gpr176 |
A |
G |
2: 118,114,493 (GRCm39) |
C106R |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,704,560 (GRCm39) |
|
probably null |
Het |
| Hlx |
T |
C |
1: 184,463,837 (GRCm39) |
S168G |
probably damaging |
Het |
| Hnf1a |
G |
T |
5: 115,088,747 (GRCm39) |
|
probably benign |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,472 (GRCm39) |
L19F |
possibly damaging |
Het |
| Hspa14 |
T |
A |
2: 3,512,086 (GRCm39) |
T63S |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,708,179 (GRCm39) |
S207F |
probably damaging |
Het |
| Jak3 |
C |
A |
8: 72,134,918 (GRCm39) |
|
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,822 (GRCm39) |
A91T |
probably damaging |
Het |
| Lgals9 |
G |
T |
11: 78,856,638 (GRCm39) |
H265Q |
possibly damaging |
Het |
| Lrriq1 |
T |
G |
10: 102,997,638 (GRCm39) |
N1326H |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,672,837 (GRCm39) |
Q486K |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,123 (GRCm39) |
T194A |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,578,813 (GRCm39) |
|
probably benign |
Het |
| Pcgf2 |
A |
C |
11: 97,582,873 (GRCm39) |
I135M |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,213,067 (GRCm39) |
A222S |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,309,859 (GRCm39) |
S575G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,341,027 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,899 (GRCm39) |
|
probably benign |
Het |
| Poteg |
T |
G |
8: 27,939,986 (GRCm39) |
L48V |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,203 (GRCm39) |
C50S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,217,620 (GRCm39) |
V707E |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,863,144 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
A |
T |
4: 86,363,340 (GRCm39) |
V381E |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,754,416 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
A |
C |
5: 22,051,343 (GRCm39) |
I57R |
probably damaging |
Het |
| Slc38a3 |
T |
A |
9: 107,532,412 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,926,534 (GRCm39) |
T188A |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,824,010 (GRCm39) |
I260V |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,977,288 (GRCm39) |
S98T |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,786 (GRCm39) |
S548R |
probably damaging |
Het |
| Sult6b1 |
C |
T |
17: 79,212,958 (GRCm39) |
G98S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,649,806 (GRCm39) |
Y77H |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,565 (GRCm39) |
D1899V |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Uap1l1 |
T |
C |
2: 25,253,289 (GRCm39) |
E382G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Ugt1a9 |
T |
C |
1: 87,999,114 (GRCm39) |
V188A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,416 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
C |
15: 81,906,793 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
T |
A |
5: 6,822,014 (GRCm39) |
T350S |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,203,201 (GRCm39) |
R61M |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAAGCTCACACGGACTGTCTGG -3'
(R):5'- GCTCCATCTACACACGATTAGCTCC -3'
Sequencing Primer
(F):5'- GGACTGTCTGGGTCAGAAC -3'
(R):5'- acaactaaaatcactcaactcactc -3'
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| Posted On |
2013-06-12 |
Incidental Mutation