Incidental Mutation 'R0528:Tnfrsf21'
ID |
49024 |
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 |
038720-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R0528 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43348505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 39
(I39N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
AlphaFold |
Q9EPU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: I39N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000024708 Gene: ENSMUSG00000023915 AA Change: I39N
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: 95.7%
- 20x: 90.9%
|
Validation Efficiency |
96% (65/68) |
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 |
Abca7 |
T |
G |
10: 79,838,848 (GRCm39) |
W674G |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,638,606 (GRCm39) |
H103Y |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,323,224 (GRCm39) |
N495S |
probably null |
Het |
Aoc1l3 |
T |
A |
6: 48,964,965 (GRCm39) |
D324E |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,584 (GRCm39) |
N488D |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,563,119 (GRCm39) |
|
probably benign |
Het |
Atraid |
T |
A |
5: 31,209,796 (GRCm39) |
|
probably benign |
Het |
Baz2b |
T |
C |
2: 59,767,083 (GRCm39) |
R866G |
probably damaging |
Het |
Cep164 |
T |
A |
9: 45,688,234 (GRCm39) |
|
probably benign |
Het |
Clec4f |
G |
A |
6: 83,629,776 (GRCm39) |
Q261* |
probably null |
Het |
Cpne4 |
A |
T |
9: 104,563,640 (GRCm39) |
N6Y |
probably damaging |
Het |
Dhx38 |
G |
T |
8: 110,289,293 (GRCm39) |
Q36K |
probably benign |
Het |
Dna2 |
C |
A |
10: 62,793,910 (GRCm39) |
Q341K |
probably benign |
Het |
Dynap |
A |
G |
18: 70,375,165 (GRCm39) |
|
probably benign |
Het |
Eif3l |
T |
C |
15: 78,973,809 (GRCm39) |
V408A |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,934,122 (GRCm39) |
I203N |
probably damaging |
Het |
Gcc2 |
T |
A |
10: 58,134,511 (GRCm39) |
L1495Q |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,830,019 (GRCm39) |
D688G |
probably damaging |
Het |
Hcfc2 |
C |
A |
10: 82,575,079 (GRCm39) |
T246K |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,152 (GRCm39) |
E57K |
probably benign |
Het |
Iqsec3 |
G |
C |
6: 121,389,743 (GRCm39) |
|
probably benign |
Het |
Islr2 |
T |
A |
9: 58,106,645 (GRCm39) |
E205V |
probably damaging |
Het |
Klf9 |
T |
C |
19: 23,119,498 (GRCm39) |
L127P |
probably benign |
Het |
Lamc2 |
A |
T |
1: 152,999,840 (GRCm39) |
L1173Q |
probably damaging |
Het |
Lipe |
G |
A |
7: 25,097,901 (GRCm39) |
T14I |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,751,394 (GRCm39) |
|
probably benign |
Het |
Lrrc15 |
A |
G |
16: 30,092,566 (GRCm39) |
S258P |
probably damaging |
Het |
Macc1 |
A |
T |
12: 119,410,780 (GRCm39) |
Y516F |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,343,630 (GRCm39) |
T718A |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,862,612 (GRCm39) |
L1439P |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,111,445 (GRCm39) |
D1628G |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,162 (GRCm39) |
T1398I |
probably benign |
Het |
Or1f12 |
A |
G |
13: 21,721,416 (GRCm39) |
F238S |
possibly damaging |
Het |
Or2a54 |
A |
T |
6: 43,093,150 (GRCm39) |
H158L |
possibly damaging |
Het |
Padi4 |
A |
G |
4: 140,496,740 (GRCm39) |
V52A |
possibly damaging |
Het |
Paqr5 |
G |
A |
9: 61,863,527 (GRCm39) |
T251I |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,768,967 (GRCm39) |
D1611G |
probably damaging |
Het |
Prss12 |
G |
A |
3: 123,276,445 (GRCm39) |
R358K |
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,526,587 (GRCm39) |
H325Q |
probably damaging |
Het |
Rbm12b1 |
A |
G |
4: 12,145,657 (GRCm39) |
H543R |
probably benign |
Het |
Rc3h1 |
A |
T |
1: 160,795,228 (GRCm39) |
N1076I |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,415,088 (GRCm39) |
L2008P |
possibly damaging |
Het |
Rsph3a |
A |
G |
17: 8,164,919 (GRCm39) |
H93R |
possibly damaging |
Het |
Sbf1 |
C |
T |
15: 89,172,915 (GRCm39) |
R1840H |
probably damaging |
Het |
Skic8 |
T |
A |
9: 54,630,219 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,937,085 (GRCm39) |
S56P |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,561,346 (GRCm39) |
M1304L |
probably damaging |
Het |
Tmprss11b |
G |
T |
5: 86,819,753 (GRCm39) |
R9S |
probably damaging |
Het |
Tnrc6b |
T |
C |
15: 80,763,604 (GRCm39) |
S369P |
probably benign |
Het |
Tpra1 |
T |
C |
6: 88,887,372 (GRCm39) |
V217A |
probably benign |
Het |
Uckl1 |
G |
C |
2: 181,212,283 (GRCm39) |
|
probably benign |
Het |
Vmn1r199 |
A |
T |
13: 22,566,736 (GRCm39) |
Q10L |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,879,506 (GRCm39) |
S265P |
possibly damaging |
Het |
Vwa5b1 |
A |
T |
4: 138,321,662 (GRCm39) |
L377Q |
probably damaging |
Het |
Wrap73 |
A |
G |
4: 154,229,776 (GRCm39) |
D49G |
probably damaging |
Het |
Zfp764 |
T |
A |
7: 127,004,051 (GRCm39) |
Q360L |
possibly damaging |
Het |
Zfp846 |
G |
A |
9: 20,499,224 (GRCm39) |
|
probably benign |
Het |
Zranb2 |
T |
C |
3: 157,240,096 (GRCm39) |
I14T |
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 |
|
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'- GCACCAGCTCCATTGTTTAATGCAC -3'
(R):5'- AGTCAAGGCAGCACAAGGTAATCTC -3'
Sequencing Primer
(F):5'- acaaaaGTTTATCATCAGGTATGCAG -3'
(R):5'- AGGTAATCTCTCAATCATCGGC -3'
|
Posted On |
2013-06-12 |