Incidental Mutation 'R0525:Tnfrsf21'
| ID |
48878 |
| 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 |
038718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R0525 (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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
A |
7: 124,930,671 (GRCm39) |
|
noncoding transcript |
Het |
| A930002H24Rik |
A |
G |
17: 64,170,642 (GRCm39) |
W49R |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,243,371 (GRCm39) |
V1745M |
probably damaging |
Het |
| Abca16 |
T |
G |
7: 120,065,033 (GRCm39) |
Y563* |
probably null |
Het |
| Acot12 |
C |
T |
13: 91,908,186 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,564,742 (GRCm39) |
A39T |
unknown |
Het |
| Arid5b |
T |
C |
10: 67,933,676 (GRCm39) |
D742G |
possibly damaging |
Het |
| Atp1a4 |
G |
A |
1: 172,067,255 (GRCm39) |
|
probably benign |
Het |
| AU021092 |
T |
A |
16: 5,035,725 (GRCm39) |
E145V |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,099,461 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,093 (GRCm39) |
|
probably null |
Het |
| Cnpy4 |
A |
T |
5: 138,190,878 (GRCm39) |
H180L |
probably benign |
Het |
| Cyp2j9 |
T |
C |
4: 96,467,802 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,802,481 (GRCm39) |
S406P |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,654,754 (GRCm39) |
C1014Y |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,527,977 (GRCm39) |
Y3824C |
probably damaging |
Het |
| Donson |
A |
T |
16: 91,483,133 (GRCm39) |
H69Q |
probably damaging |
Het |
| Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
| Drg1 |
A |
G |
11: 3,212,545 (GRCm39) |
F96L |
probably damaging |
Het |
| Dvl1 |
A |
C |
4: 155,940,052 (GRCm39) |
T395P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,730,079 (GRCm39) |
V897D |
probably damaging |
Het |
| Enpp6 |
A |
G |
8: 47,535,478 (GRCm39) |
N341S |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,706,086 (GRCm39) |
F100L |
probably benign |
Het |
| Fas |
T |
C |
19: 34,296,727 (GRCm39) |
Y189H |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,852,076 (GRCm39) |
S114R |
probably damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,720,602 (GRCm39) |
I528V |
probably benign |
Het |
| Glt6d1 |
A |
G |
2: 25,684,280 (GRCm39) |
V242A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,594,953 (GRCm39) |
|
probably benign |
Het |
| Gskip |
G |
A |
12: 105,665,224 (GRCm39) |
A88T |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
| Hnrnpul1 |
C |
A |
7: 25,440,308 (GRCm39) |
R316L |
possibly damaging |
Het |
| Il34 |
T |
C |
8: 111,474,915 (GRCm39) |
E121G |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,215,685 (GRCm39) |
L19P |
probably damaging |
Het |
| Mat2b |
A |
G |
11: 40,573,496 (GRCm39) |
|
probably benign |
Het |
| Mettl21e |
T |
C |
1: 44,245,542 (GRCm39) |
K235E |
probably damaging |
Het |
| Mir124-2hg |
T |
A |
3: 17,839,693 (GRCm39) |
E126V |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,414 (GRCm39) |
K828R |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Nek5 |
C |
A |
8: 22,569,093 (GRCm39) |
|
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,392 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
A |
T |
2: 87,139,693 (GRCm39) |
T187S |
probably benign |
Het |
| Or10d4c |
T |
G |
9: 39,558,767 (GRCm39) |
C248W |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
| Or4a67 |
G |
A |
2: 88,597,658 (GRCm39) |
Q334* |
probably null |
Het |
| Or8k23 |
C |
T |
2: 86,186,619 (GRCm39) |
V36I |
probably benign |
Het |
| Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
| Pmch |
T |
C |
10: 87,927,262 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,298,717 (GRCm39) |
S697G |
probably damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,260,322 (GRCm39) |
V25A |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,433,630 (GRCm39) |
H426R |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,204,598 (GRCm39) |
F9S |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,874,432 (GRCm39) |
H52Q |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,324,873 (GRCm39) |
K294R |
probably benign |
Het |
| Sidt1 |
G |
T |
16: 44,079,809 (GRCm39) |
T615K |
possibly damaging |
Het |
| Slc16a4 |
A |
C |
3: 107,205,255 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,199,696 (GRCm39) |
|
probably null |
Het |
| Sp2 |
A |
T |
11: 96,846,924 (GRCm39) |
|
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,792,903 (GRCm39) |
I3F |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 36,950,159 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,995,614 (GRCm39) |
V968F |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,482,398 (GRCm39) |
F531L |
possibly damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,088 (GRCm39) |
K213E |
probably benign |
Het |
| Vps8 |
G |
A |
16: 21,358,859 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,903,525 (GRCm39) |
S2563T |
probably damaging |
Het |
| Yrdc |
C |
G |
4: 124,745,559 (GRCm39) |
R3G |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,606,070 (GRCm39) |
V279E |
probably benign |
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 |
|
|
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'- TGAAGTGTAAAGCTCACACGGACTG -3'
(R):5'- GCTCCATCTACACACGATTAGCTCC -3'
Sequencing Primer
(F):5'- GGACTGTCTGGGTCAGAAC -3'
(R):5'- acaactaaaatcactcaactcactc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation