Incidental Mutation 'R0105:Tnfrsf21'
| ID |
33288 |
| 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 |
038391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R0105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 43351082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024708
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
| 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 |
0.9491 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
G |
A |
6: 133,271,277 (GRCm39) |
R107K |
probably benign |
Het |
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
| Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,779,819 (GRCm39) |
I1720M |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,030,064 (GRCm39) |
|
probably benign |
Het |
| C1qtnf4 |
T |
A |
2: 90,720,707 (GRCm39) |
*327R |
probably null |
Het |
| C1s1 |
T |
C |
6: 124,518,277 (GRCm39) |
|
probably benign |
Het |
| Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,563,384 (GRCm39) |
M848V |
probably benign |
Het |
| Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,725,883 (GRCm39) |
V1375A |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,794,720 (GRCm39) |
|
probably benign |
Het |
| Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
| Ctdspl2 |
T |
A |
2: 121,807,801 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
| Elavl3 |
C |
A |
9: 21,948,129 (GRCm39) |
V12F |
possibly damaging |
Het |
| Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,505,033 (GRCm39) |
D466G |
possibly damaging |
Het |
| Fto |
G |
A |
8: 92,249,430 (GRCm39) |
E421K |
probably damaging |
Het |
| Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
A |
G |
3: 89,784,125 (GRCm39) |
I382T |
probably damaging |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
| Lhpp |
T |
C |
7: 132,232,254 (GRCm39) |
S57P |
probably damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,335,368 (GRCm39) |
D1263E |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
| Nccrp1 |
T |
C |
7: 28,246,463 (GRCm39) |
D33G |
probably benign |
Het |
| Neurog1 |
G |
T |
13: 56,399,050 (GRCm39) |
D232E |
probably benign |
Het |
| Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
| Or4c105 |
T |
A |
2: 88,648,253 (GRCm39) |
V246D |
probably damaging |
Het |
| Otog |
C |
A |
7: 45,937,790 (GRCm39) |
T1833K |
possibly damaging |
Het |
| Perm1 |
C |
A |
4: 156,302,682 (GRCm39) |
H409N |
probably benign |
Het |
| Pik3r5 |
A |
T |
11: 68,381,337 (GRCm39) |
E174D |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
| Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
| Prrc2b |
G |
T |
2: 32,103,323 (GRCm39) |
E934* |
probably null |
Het |
| Psmb9 |
A |
G |
17: 34,406,249 (GRCm39) |
F12S |
probably benign |
Het |
| Ptdss2 |
T |
C |
7: 140,732,793 (GRCm39) |
W183R |
probably damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
| Scml4 |
T |
A |
10: 42,806,595 (GRCm39) |
V161E |
probably damaging |
Het |
| Sdcbp2 |
A |
T |
2: 151,431,478 (GRCm39) |
T284S |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,137,991 (GRCm39) |
|
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,197,121 (GRCm39) |
|
probably benign |
Het |
| Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
| Tbx10 |
A |
G |
19: 4,043,121 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
| Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
| Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
| Trim65 |
T |
C |
11: 116,016,892 (GRCm39) |
*523W |
probably null |
Het |
| Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
| Zhx2 |
T |
C |
15: 57,686,091 (GRCm39) |
F487L |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably damaging |
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 |
|
|
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 |
|
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'- TCAACGAGCACTTGCCTTGGATG -3'
(R):5'- TTTTCCAGTTTCAATGGTGCAACGG -3'
Sequencing Primer
(F):5'- GATCGTCCTCTTCCTTCTGCTG -3'
(R):5'- GAGGTGATCCTATCTGAATTGCAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation