Incidental Mutation 'R1591:Tnfrsf21'
| ID |
175532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf21
|
| Ensembl Gene |
ENSMUSG00000023915 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 21 |
| Synonyms |
DR6, TR7, Death receptor 6 |
| MMRRC Submission |
039628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R1591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43016555-43089188 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43085374 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 516
(S516R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: S516R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: S516R
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
G |
T |
5: 100,809,639 |
Q201K |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,203,423 |
I829F |
possibly damaging |
Het |
| Acvr1b |
G |
T |
15: 101,194,024 |
V62L |
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,489,832 |
I90F |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,310,981 |
L703P |
probably damaging |
Het |
| Arf3 |
T |
C |
15: 98,742,788 |
|
probably benign |
Het |
| Asns |
T |
C |
6: 7,678,007 |
D357G |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,945,385 |
M2461T |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 33,950,839 |
R142C |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,819,220 |
I1584V |
probably benign |
Het |
| Bub3 |
T |
C |
7: 131,561,608 |
|
probably null |
Het |
| Camkk2 |
A |
G |
5: 122,757,558 |
|
probably null |
Het |
| Cand1 |
G |
T |
10: 119,211,869 |
T572K |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,873,108 |
S235R |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,636,342 |
T452A |
probably benign |
Het |
| Cdh4 |
T |
C |
2: 179,886,864 |
|
probably null |
Het |
| Cfap61 |
A |
G |
2: 146,145,458 |
R1060G |
probably benign |
Het |
| Chd9 |
A |
G |
8: 90,983,538 |
D314G |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,900,710 |
I3500F |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,272,332 |
Q2858K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,076,600 |
E2884K |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,735,963 |
R342C |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,568,383 |
I485N |
probably benign |
Het |
| Fap |
T |
C |
2: 62,553,857 |
K2E |
probably damaging |
Het |
| Fgfr1 |
G |
A |
8: 25,572,720 |
G671D |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,370,367 |
R162Q |
possibly damaging |
Het |
| Gm17727 |
T |
C |
9: 35,776,656 |
D96G |
probably damaging |
Het |
| Grap2 |
A |
T |
15: 80,648,448 |
Y272F |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,766,200 |
W246R |
probably damaging |
Het |
| Kcna3 |
A |
T |
3: 107,037,029 |
I203F |
probably damaging |
Het |
| Kcng1 |
T |
C |
2: 168,268,710 |
E178G |
possibly damaging |
Het |
| Kif19a |
A |
C |
11: 114,789,231 |
H798P |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,149,317 |
L359P |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,692,357 |
|
probably null |
Het |
| Lman1l |
C |
T |
9: 57,615,802 |
V125I |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,605,606 |
S216N |
probably benign |
Het |
| Lrp3 |
A |
G |
7: 35,202,365 |
V676A |
probably benign |
Het |
| Lrrc63 |
T |
A |
14: 75,125,892 |
K266N |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 35,989,857 |
V246M |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,700,092 |
V1395A |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,944,771 |
R71* |
probably null |
Het |
| Mrps2 |
C |
T |
2: 28,469,488 |
A119V |
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,349,384 |
F750S |
probably damaging |
Het |
| Olfr147 |
A |
G |
9: 38,402,936 |
T18A |
probably damaging |
Het |
| Olfr356 |
C |
A |
2: 36,937,978 |
N286K |
probably damaging |
Het |
| Olfr484 |
T |
A |
7: 108,124,364 |
I300F |
possibly damaging |
Het |
| Olfr612 |
T |
G |
7: 103,539,067 |
T56P |
probably benign |
Het |
| Olfr901 |
A |
T |
9: 38,430,411 |
N43I |
probably damaging |
Het |
| Osbpl11 |
A |
C |
16: 33,209,983 |
I194L |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,385,051 |
E14G |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,720,422 |
T440A |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,485,825 |
S223P |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,748,178 |
R109K |
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 52,099,089 |
I14T |
possibly damaging |
Het |
| Rdh12 |
A |
T |
12: 79,211,504 |
T102S |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,639,313 |
C132* |
probably null |
Het |
| Rufy1 |
G |
A |
11: 50,394,928 |
L621F |
probably damaging |
Het |
| Ruvbl2 |
C |
T |
7: 45,424,711 |
R253H |
possibly damaging |
Het |
| Sdf2 |
A |
G |
11: 78,254,993 |
E172G |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,999,454 |
|
probably null |
Het |
| Slc25a27 |
A |
G |
17: 43,653,424 |
I185T |
probably benign |
Het |
| Slc41a3 |
A |
C |
6: 90,633,695 |
K180Q |
probably benign |
Het |
| Slc7a14 |
A |
C |
3: 31,237,449 |
F227V |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 118,156,919 |
|
probably benign |
Het |
| St6galnac1 |
A |
T |
11: 116,765,863 |
D483E |
probably damaging |
Het |
| Tes |
A |
G |
6: 17,097,442 |
K183R |
probably damaging |
Het |
| Tgfbr1 |
G |
T |
4: 47,403,471 |
D290Y |
probably damaging |
Het |
| Tifab |
T |
A |
13: 56,176,351 |
Y93F |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,940,889 |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,776,045 |
Y18140C |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,244,747 |
S3692T |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 78,908,230 |
R116C |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,151,197 |
|
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,437,625 |
T548A |
probably benign |
Het |
| Zfp870 |
C |
T |
17: 32,884,016 |
G114D |
probably damaging |
Het |
|
| Other mutations in Tnfrsf21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01406:Tnfrsf21
|
APN |
17 |
43,037,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01663:Tnfrsf21
|
APN |
17 |
43,087,811 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01811:Tnfrsf21
|
APN |
17 |
43,037,613 (GRCm38) |
missense |
probably benign |
|
|
IGL01916:Tnfrsf21
|
APN |
17 |
43,039,803 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01934:Tnfrsf21
|
APN |
17 |
43,065,187 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02184:Tnfrsf21
|
APN |
17 |
43,085,463 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL02292:Tnfrsf21
|
APN |
17 |
43,039,911 (GRCm38) |
missense |
probably benign |
|
|
IGL02385:Tnfrsf21
|
APN |
17 |
43,040,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02710:Tnfrsf21
|
APN |
17 |
43,087,929 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03001:Tnfrsf21
|
APN |
17 |
43,087,895 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03003:Tnfrsf21
|
APN |
17 |
43,039,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4480001:Tnfrsf21
|
UTSW |
17 |
43,037,911 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0007:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0046:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0088:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0091:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0102:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0102:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0103:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0105:Tnfrsf21
|
UTSW |
17 |
43,040,191 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0105:Tnfrsf21
|
UTSW |
17 |
43,040,191 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0206:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0211:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0240:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0243:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0308:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0363:Tnfrsf21
|
UTSW |
17 |
43,037,877 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0456:Tnfrsf21
|
UTSW |
17 |
43,038,091 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0522:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0523:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0525:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0528:Tnfrsf21
|
UTSW |
17 |
43,037,614 (GRCm38) |
missense |
probably benign |
|
|
R0543:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0549:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0550:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0699:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0724:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0734:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0847:Tnfrsf21
|
UTSW |
17 |
43,038,213 (GRCm38) |
missense |
probably benign |
|
|
R0880:Tnfrsf21
|
UTSW |
17 |
43,037,842 (GRCm38) |
nonsense |
probably null |
|
|
R2069:Tnfrsf21
|
UTSW |
17 |
43,037,938 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R2153:Tnfrsf21
|
UTSW |
17 |
43,087,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2323:Tnfrsf21
|
UTSW |
17 |
43,085,529 (GRCm38) |
nonsense |
probably null |
|
|
R3941:Tnfrsf21
|
UTSW |
17 |
43,038,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4438:Tnfrsf21
|
UTSW |
17 |
43,087,842 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4509:Tnfrsf21
|
UTSW |
17 |
43,085,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4510:Tnfrsf21
|
UTSW |
17 |
43,065,019 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4511:Tnfrsf21
|
UTSW |
17 |
43,065,019 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4708:Tnfrsf21
|
UTSW |
17 |
43,038,232 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4721:Tnfrsf21
|
UTSW |
17 |
43,085,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4811:Tnfrsf21
|
UTSW |
17 |
43,037,730 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5437:Tnfrsf21
|
UTSW |
17 |
43,037,862 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5767:Tnfrsf21
|
UTSW |
17 |
43,037,659 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6057:Tnfrsf21
|
UTSW |
17 |
43,039,715 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6392:Tnfrsf21
|
UTSW |
17 |
43,017,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6860:Tnfrsf21
|
UTSW |
17 |
43,017,066 (GRCm38) |
missense |
probably benign |
|
|
R7253:Tnfrsf21
|
UTSW |
17 |
43,037,667 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7288:Tnfrsf21
|
UTSW |
17 |
43,037,818 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7643:Tnfrsf21
|
UTSW |
17 |
43,037,916 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7937:Tnfrsf21
|
UTSW |
17 |
43,037,925 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8098:Tnfrsf21
|
UTSW |
17 |
43,039,899 (GRCm38) |
missense |
probably benign |
|
|
R8495:Tnfrsf21
|
UTSW |
17 |
43,038,237 (GRCm38) |
missense |
probably benign |
|
|
R8865:Tnfrsf21
|
UTSW |
17 |
43,085,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8991:Tnfrsf21
|
UTSW |
17 |
43,085,408 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9088:Tnfrsf21
|
UTSW |
17 |
43,037,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9150:Tnfrsf21
|
UTSW |
17 |
43,087,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9220:Tnfrsf21
|
UTSW |
17 |
43,087,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V3553:Tnfrsf21
|
UTSW |
17 |
43,037,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGCTTCACACGAACTCTGAAAG -3'
(R):5'- AGGTCTCCCTAAACAGCTCAGCTAC -3'
Sequencing Primer
(F):5'- acatccttatcttcccagcac -3'
(R):5'- GTAATAAAGGAGCCGTTTCTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation