Incidental Mutation 'R0724:Tnfrsf21'
| ID |
63835 |
| 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 |
038906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R0724 (G1)
|
| Quality Score |
81 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43327446-43400079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43349104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 239
(H239Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024708]
|
| AlphaFold |
Q9EPU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024708
AA Change: H239Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: H239Y
| 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 |
0.0680 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,573 (GRCm39) |
E136G |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,159,281 (GRCm39) |
S655R |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,676,513 (GRCm39) |
V71E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,755,986 (GRCm39) |
R1077H |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,976,607 (GRCm39) |
T198A |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,499,755 (GRCm39) |
I109N |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,162,349 (GRCm39) |
I119T |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,670 (GRCm39) |
Y504C |
probably damaging |
Het |
| Casp1 |
C |
T |
9: 5,303,077 (GRCm39) |
P177L |
probably benign |
Het |
| Ccdc122 |
C |
A |
14: 77,329,517 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,141 (GRCm39) |
S158P |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,776,827 (GRCm39) |
D103E |
possibly damaging |
Het |
| Clstn1 |
A |
C |
4: 149,728,081 (GRCm39) |
D583A |
possibly damaging |
Het |
| Corin |
A |
G |
5: 72,490,138 (GRCm39) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,610,283 (GRCm39) |
D144G |
probably damaging |
Het |
| Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,214,408 (GRCm39) |
T1027A |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,559,213 (GRCm39) |
E653G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,758 (GRCm39) |
I1459V |
probably benign |
Het |
| Dyrk3 |
T |
C |
1: 131,057,877 (GRCm39) |
T64A |
probably benign |
Het |
| Emp2 |
C |
T |
16: 10,102,479 (GRCm39) |
C111Y |
probably benign |
Het |
| Enam |
A |
G |
5: 88,649,853 (GRCm39) |
Y454C |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,193,984 (GRCm39) |
C1328S |
probably benign |
Het |
| Gata3 |
T |
C |
2: 9,879,386 (GRCm39) |
T197A |
probably benign |
Het |
| Gm1043 |
A |
G |
5: 37,344,573 (GRCm39) |
T212A |
probably damaging |
Het |
| H2-Eb1 |
T |
C |
17: 34,534,006 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,722,506 (GRCm39) |
H36R |
probably damaging |
Het |
| Hmgcs2 |
C |
A |
3: 98,204,317 (GRCm39) |
Y239* |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,845,490 (GRCm39) |
Y68C |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,096,579 (GRCm39) |
I143V |
probably benign |
Het |
| Klhdc2 |
C |
A |
12: 69,343,822 (GRCm39) |
F18L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,069,130 (GRCm39) |
Y251C |
probably damaging |
Het |
| Lrch4 |
A |
T |
5: 137,635,570 (GRCm39) |
N315I |
probably damaging |
Het |
| Map3k10 |
A |
C |
7: 27,367,780 (GRCm39) |
V286G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,138,602 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,322,221 (GRCm39) |
L809I |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,870,896 (GRCm39) |
|
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,374 (GRCm39) |
V175A |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 90,833,424 (GRCm39) |
D270V |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,819,871 (GRCm39) |
N564S |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,940,760 (GRCm39) |
R359C |
probably damaging |
Het |
| Plcxd3 |
G |
A |
15: 4,546,350 (GRCm39) |
S118N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,583,144 (GRCm39) |
S664P |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,159,752 (GRCm39) |
I443V |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,972,643 (GRCm39) |
|
probably benign |
Het |
| Smim14 |
A |
G |
5: 65,610,682 (GRCm39) |
|
probably benign |
Het |
| Sost |
C |
T |
11: 101,857,744 (GRCm39) |
C19Y |
probably benign |
Het |
| Tcaf1 |
G |
T |
6: 42,652,301 (GRCm39) |
A727E |
probably damaging |
Het |
| Thoc1 |
T |
C |
18: 9,963,829 (GRCm39) |
L144P |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,860,485 (GRCm39) |
T577S |
possibly damaging |
Het |
| Tshr |
T |
C |
12: 91,505,060 (GRCm39) |
F666S |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,698,205 (GRCm39) |
V192A |
possibly damaging |
Het |
| Zfp697 |
T |
C |
3: 98,335,482 (GRCm39) |
W416R |
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 |
|
|
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 |
|
|
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'- GTAAAGCTCACACGGACTGTCTGG -3'
(R):5'- GCTCCATCTACACACGATTAGCTCC -3'
Sequencing Primer
(F):5'- GGACTGTCTGGGTCAGAAC -3'
(R):5'- acaactaaaatcactcaactcactc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation