Incidental Mutation 'R9088:Tnfrsf21'
| ID |
690787 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R9088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43348607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 73
(G73E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024708
AA Change: G73E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: G73E
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,282,870 (GRCm39) |
Y1212C |
|
Het |
| Asah2 |
T |
C |
19: 32,030,360 (GRCm39) |
Q104R |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,158,295 (GRCm39) |
R9* |
probably null |
Het |
| Bpifa3 |
A |
C |
2: 153,975,685 (GRCm39) |
N85T |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,792,956 (GRCm39) |
Y354H |
probably damaging |
Het |
| Caln1 |
A |
T |
5: 130,443,617 (GRCm39) |
|
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,321,451 (GRCm39) |
F378L |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,281,806 (GRCm39) |
H125R |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,882 (GRCm39) |
E258K |
probably damaging |
Het |
| Cep295 |
C |
A |
9: 15,233,815 (GRCm39) |
R2327L |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,226,923 (GRCm39) |
D224E |
unknown |
Het |
| Col16a1 |
T |
A |
4: 129,971,016 (GRCm39) |
S938T |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,493,227 (GRCm39) |
E1340G |
possibly damaging |
Het |
| Col6a6 |
C |
T |
9: 105,661,276 (GRCm39) |
V278M |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,799,890 (GRCm39) |
L41Q |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,436,867 (GRCm39) |
D50V |
possibly damaging |
Het |
| Ddx56 |
C |
T |
11: 6,209,612 (GRCm39) |
A500T |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,718,418 (GRCm39) |
V1713A |
unknown |
Het |
| Dnah1 |
T |
C |
14: 30,987,970 (GRCm39) |
I3483V |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,737,594 (GRCm39) |
F402I |
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,768,424 (GRCm39) |
H754Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,772,890 (GRCm39) |
Y576H |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,448 (GRCm39) |
S4344P |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,790,150 (GRCm39) |
I320T |
|
Het |
| Fbxw22 |
C |
T |
9: 109,207,952 (GRCm39) |
D440N |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,583,913 (GRCm39) |
E109G |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,240,766 (GRCm39) |
D214V |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,995 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,762 (GRCm39) |
K69E |
unknown |
Het |
| Lrrc8e |
G |
A |
8: 4,284,410 (GRCm39) |
V212M |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,773 (GRCm39) |
S888C |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,715 (GRCm39) |
G920* |
probably null |
Het |
| Mlkl |
G |
T |
8: 112,049,365 (GRCm39) |
R253S |
|
Het |
| Mmachc |
T |
A |
4: 116,561,829 (GRCm39) |
I102F |
probably damaging |
Het |
| Mnt |
G |
T |
11: 74,733,880 (GRCm39) |
V504L |
unknown |
Het |
| Mup14 |
C |
T |
4: 61,258,496 (GRCm39) |
G96D |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,242,885 (GRCm39) |
E933K |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,249,726 (GRCm39) |
S1193P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,931,314 (GRCm38) |
I762T |
probably damaging |
Het |
| Nmur1 |
G |
T |
1: 86,315,252 (GRCm39) |
F204L |
probably benign |
Het |
| Or1ak2 |
A |
G |
2: 36,827,988 (GRCm39) |
N286D |
probably damaging |
Het |
| Or52e15 |
G |
T |
7: 104,645,301 (GRCm39) |
P270Q |
probably damaging |
Het |
| Or8a1 |
T |
A |
9: 37,641,806 (GRCm39) |
I158F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,927 (GRCm39) |
Y528C |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,920,289 (GRCm39) |
S748P |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,908,767 (GRCm39) |
T531A |
probably benign |
Het |
| Slit3 |
C |
T |
11: 35,012,463 (GRCm39) |
S41F |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,246,058 (GRCm39) |
Q226R |
probably damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,429 (GRCm39) |
G185D |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,989,138 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
T |
A |
2: 28,552,617 (GRCm39) |
C119S |
possibly damaging |
Het |
| Uox |
A |
G |
3: 146,330,369 (GRCm39) |
Y199C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,187,708 (GRCm39) |
D231G |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,378 (GRCm39) |
K338N |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,561,229 (GRCm39) |
T178I |
probably benign |
Het |
| Zfp931 |
G |
T |
2: 177,709,594 (GRCm39) |
T264K |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,377,326 (GRCm39) |
D857G |
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 |
|
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'- AGATCTTGAACAGTGGTGATGACC -3'
(R):5'- AGATGCACTCTCGGTCAGTC -3'
Sequencing Primer
(F):5'- AACAGTGGTGATGACCTGTTATTGC -3'
(R):5'- ACTCTCGGTCAGTCAAGGCAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation