Incidental Mutation 'R9220:Tnfrsf21'
ID |
699432 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R9220 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43398801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 636
(S636G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
AlphaFold |
Q9EPU5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024708
AA Change: S636G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024708 Gene: ENSMUSG00000023915 AA Change: S636G
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Afg3l2 |
T |
G |
18: 67,562,266 (GRCm39) |
I270L |
probably benign |
Het |
Akap6 |
A |
T |
12: 53,187,232 (GRCm39) |
I1549F |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,737,086 (GRCm39) |
T2933A |
unknown |
Het |
Atp1a3 |
C |
A |
7: 24,696,625 (GRCm39) |
E309* |
probably null |
Het |
B4galt2 |
T |
C |
4: 117,734,399 (GRCm39) |
Y250C |
probably damaging |
Het |
Bcl2l13 |
C |
A |
6: 120,847,735 (GRCm39) |
T129K |
possibly damaging |
Het |
Bltp3b |
A |
T |
10: 89,626,457 (GRCm39) |
T384S |
probably benign |
Het |
Clp1 |
A |
T |
2: 84,554,076 (GRCm39) |
H364Q |
probably damaging |
Het |
Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,679,415 (GRCm39) |
C521R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,871,437 (GRCm39) |
I2486F |
probably benign |
Het |
Eml1 |
C |
A |
12: 108,480,702 (GRCm39) |
C389* |
probably null |
Het |
Fabp6 |
C |
T |
11: 43,489,572 (GRCm39) |
G23D |
probably benign |
Het |
Fam3b |
A |
T |
16: 97,302,111 (GRCm39) |
S38T |
probably benign |
Het |
Fsd1l |
A |
T |
4: 53,679,799 (GRCm39) |
K166* |
probably null |
Het |
Galc |
A |
G |
12: 98,220,523 (GRCm39) |
S115P |
probably damaging |
Het |
Gpn1 |
G |
A |
5: 31,664,884 (GRCm39) |
A303T |
probably benign |
Het |
Grid2 |
A |
T |
6: 63,885,888 (GRCm39) |
S95C |
probably damaging |
Het |
Helz |
T |
A |
11: 107,560,873 (GRCm39) |
S1312T |
probably benign |
Het |
Matn2 |
T |
C |
15: 34,410,325 (GRCm39) |
F506L |
possibly damaging |
Het |
Mcemp1 |
A |
G |
8: 3,717,512 (GRCm39) |
S148G |
probably benign |
Het |
Minar1 |
T |
A |
9: 89,484,398 (GRCm39) |
D333V |
probably damaging |
Het |
Ndrg1 |
A |
G |
15: 66,805,711 (GRCm39) |
|
probably null |
Het |
Nlrp4a |
A |
T |
7: 26,149,523 (GRCm39) |
N377Y |
probably damaging |
Het |
Nox4 |
C |
T |
7: 86,970,774 (GRCm39) |
T217I |
probably benign |
Het |
Or7g21 |
T |
C |
9: 19,033,193 (GRCm39) |
F311S |
possibly damaging |
Het |
Or8b52 |
A |
T |
9: 38,576,803 (GRCm39) |
Y112* |
probably null |
Het |
Phf8-ps |
T |
C |
17: 33,286,494 (GRCm39) |
I103V |
probably benign |
Het |
Plekhd1 |
T |
A |
12: 80,768,726 (GRCm39) |
F403Y |
possibly damaging |
Het |
Plekhg1 |
T |
C |
10: 3,913,805 (GRCm39) |
S1231P |
|
Het |
Plekhg3 |
T |
A |
12: 76,618,839 (GRCm39) |
M497K |
probably benign |
Het |
Rpap1 |
T |
C |
2: 119,604,669 (GRCm39) |
H413R |
probably damaging |
Het |
Rragd |
A |
G |
4: 32,995,924 (GRCm39) |
T90A |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,242,396 (GRCm39) |
M286T |
probably benign |
Het |
Shpk |
GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA |
GA |
11: 73,113,996 (GRCm39) |
|
probably null |
Het |
Slc22a2 |
T |
A |
17: 12,838,757 (GRCm39) |
D528E |
probably benign |
Het |
Slirp |
G |
A |
12: 87,494,376 (GRCm39) |
R47K |
probably benign |
Het |
Sncg |
T |
C |
14: 34,096,474 (GRCm39) |
T22A |
possibly damaging |
Het |
Unc80 |
T |
G |
1: 66,546,534 (GRCm39) |
S535R |
probably damaging |
Het |
Vmn1r149 |
A |
T |
7: 22,137,378 (GRCm39) |
S93T |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,783,058 (GRCm39) |
Y3957H |
|
Het |
Wdr35 |
T |
A |
12: 9,036,000 (GRCm39) |
V257E |
possibly damaging |
Het |
Wscd1 |
A |
G |
11: 71,662,750 (GRCm39) |
T264A |
probably benign |
Het |
Zfp266 |
G |
A |
9: 20,413,337 (GRCm39) |
Q108* |
probably null |
Het |
Zfp62 |
T |
A |
11: 49,106,075 (GRCm39) |
S55R |
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 |
|
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 |
V3553:Tnfrsf21
|
UTSW |
17 |
43,348,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTCAGAATGCCAGCAG -3'
(R):5'- GGCCATACACTCTGTTAAACAC -3'
Sequencing Primer
(F):5'- CCAGCAGCCCCTCATCTG -3'
(R):5'- TCTGTTAAACACATACATACACACC -3'
|
Posted On |
2022-02-07 |