Incidental Mutation 'R0103:Tnfrsf21'
| ID |
34511 |
| 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 |
038389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R0103 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| 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: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
99% (84/85) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,223,951 (GRCm39) |
R443S |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,522,372 (GRCm39) |
|
probably benign |
Het |
| Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,206,922 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
G |
T |
19: 31,996,377 (GRCm39) |
H374N |
probably benign |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Ccdc106 |
C |
A |
7: 5,060,544 (GRCm39) |
Q35K |
probably benign |
Het |
| Ccm2l |
G |
T |
2: 152,909,839 (GRCm39) |
E64* |
probably null |
Het |
| Cep85l |
A |
T |
10: 53,154,270 (GRCm39) |
D776E |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,815,951 (GRCm39) |
I611F |
possibly damaging |
Het |
| Cldn22 |
C |
T |
8: 48,277,589 (GRCm39) |
T9M |
probably benign |
Het |
| Coa7 |
T |
C |
4: 108,195,338 (GRCm39) |
L89P |
possibly damaging |
Het |
| Cox7a2l |
A |
T |
17: 83,821,701 (GRCm39) |
Y2N |
probably damaging |
Het |
| Ctns |
A |
C |
11: 73,076,137 (GRCm39) |
I299M |
probably damaging |
Het |
| Cyp27a1 |
A |
C |
1: 74,775,074 (GRCm39) |
E301A |
probably benign |
Het |
| Cyp2b13 |
A |
T |
7: 25,788,135 (GRCm39) |
K421M |
probably damaging |
Het |
| Cyp4f40 |
G |
T |
17: 32,895,282 (GRCm39) |
C468F |
probably damaging |
Het |
| Cyp4f40 |
C |
A |
17: 32,895,283 (GRCm39) |
C468* |
probably null |
Het |
| Dcun1d5 |
G |
A |
9: 7,188,788 (GRCm39) |
C74Y |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,730,683 (GRCm39) |
Y860C |
probably benign |
Het |
| Dgkz |
T |
C |
2: 91,764,550 (GRCm39) |
T1028A |
probably benign |
Het |
| Dhx58 |
T |
C |
11: 100,586,096 (GRCm39) |
T642A |
probably damaging |
Het |
| Dlg4 |
A |
G |
11: 69,922,019 (GRCm39) |
Y87C |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,069,155 (GRCm39) |
E2511K |
probably damaging |
Het |
| Entpd5 |
C |
A |
12: 84,443,717 (GRCm39) |
E9* |
probably null |
Het |
| Fbln2 |
A |
C |
6: 91,248,532 (GRCm39) |
I1066L |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,192,381 (GRCm39) |
R4H |
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,229,884 (GRCm39) |
I17K |
probably damaging |
Het |
| Galnt2l |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
| Gbp7 |
T |
A |
3: 142,252,299 (GRCm39) |
N627K |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,265,381 (GRCm39) |
Y331C |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,366 (GRCm39) |
E521G |
possibly damaging |
Het |
| Hibadh |
T |
A |
6: 52,534,862 (GRCm39) |
M173L |
probably benign |
Het |
| Iba57 |
C |
T |
11: 59,054,439 (GRCm39) |
A27T |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,152,790 (GRCm39) |
I211V |
probably benign |
Het |
| Keg1 |
A |
T |
19: 12,696,280 (GRCm39) |
I155F |
possibly damaging |
Het |
| Krt84 |
T |
C |
15: 101,438,671 (GRCm39) |
E272G |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,307,384 (GRCm39) |
V2892L |
probably benign |
Het |
| Ltb |
A |
G |
17: 35,414,016 (GRCm39) |
|
probably benign |
Het |
| Masp1 |
G |
A |
16: 23,276,768 (GRCm39) |
P579L |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,618,359 (GRCm39) |
M1724K |
probably benign |
Het |
| Myo3a |
T |
G |
2: 22,436,360 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,776,493 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,233,871 (GRCm39) |
Q444K |
possibly damaging |
Het |
| Nek7 |
A |
T |
1: 138,471,980 (GRCm39) |
C53* |
probably null |
Het |
| Obscn |
G |
T |
11: 58,953,522 (GRCm39) |
Y4044* |
probably null |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,046,257 (GRCm39) |
D178V |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,578,845 (GRCm39) |
|
probably benign |
Het |
| Phxr4 |
T |
C |
9: 13,343,087 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,593,583 (GRCm39) |
D1510V |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,460,537 (GRCm39) |
C4249R |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,972 (GRCm39) |
Y968H |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,102,057 (GRCm39) |
V378A |
possibly damaging |
Het |
| Psd2 |
A |
G |
18: 36,137,770 (GRCm39) |
N455S |
probably damaging |
Het |
| Ptch2 |
C |
A |
4: 116,966,622 (GRCm39) |
|
probably benign |
Het |
| Rab4b |
A |
G |
7: 26,873,927 (GRCm39) |
I117T |
probably benign |
Het |
| Rad9b |
A |
T |
5: 122,469,590 (GRCm39) |
V348E |
probably damaging |
Het |
| Rcor1 |
T |
C |
12: 111,076,212 (GRCm39) |
|
probably benign |
Het |
| Rhoc |
A |
T |
3: 104,699,307 (GRCm39) |
E32V |
possibly damaging |
Het |
| Rnf40 |
T |
G |
7: 127,199,743 (GRCm39) |
V925G |
probably damaging |
Het |
| Rptor |
G |
T |
11: 119,775,793 (GRCm39) |
R988L |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,963,292 (GRCm39) |
Y176* |
probably null |
Het |
| Slc7a1 |
T |
A |
5: 148,289,236 (GRCm39) |
K4* |
probably null |
Het |
| Ss18 |
A |
C |
18: 14,812,478 (GRCm39) |
Y38D |
probably damaging |
Het |
| Syt4 |
T |
A |
18: 31,580,273 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,837,304 (GRCm39) |
N305Y |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,192 (GRCm39) |
Y119F |
probably benign |
Het |
| Tcaf1 |
G |
T |
6: 42,663,324 (GRCm39) |
D185E |
probably benign |
Het |
| Tmem138 |
T |
C |
19: 10,552,316 (GRCm39) |
N62S |
possibly damaging |
Het |
| Tnfaip2 |
C |
T |
12: 111,412,244 (GRCm39) |
T215M |
probably benign |
Het |
| Tnfrsf25 |
C |
T |
4: 152,201,405 (GRCm39) |
P65S |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,067,240 (GRCm39) |
S495R |
possibly damaging |
Het |
| Trpv3 |
T |
C |
11: 73,184,805 (GRCm39) |
F597S |
probably damaging |
Het |
| Tsc22d4 |
A |
C |
5: 137,745,378 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ttc39a |
A |
G |
4: 109,278,650 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,591,570 (GRCm39) |
H21033P |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,484,577 (GRCm39) |
V149A |
possibly damaging |
Het |
| Ush2a |
T |
G |
1: 188,051,267 (GRCm39) |
I251R |
possibly damaging |
Het |
| Vamp4 |
T |
C |
1: 162,417,108 (GRCm39) |
C114R |
possibly damaging |
Het |
| Wdr33 |
T |
C |
18: 31,966,388 (GRCm39) |
V135A |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,567,908 (GRCm39) |
V1067E |
probably damaging |
Het |
| Zcwpw1 |
G |
A |
5: 137,808,375 (GRCm39) |
W274* |
probably null |
Het |
| Zfp219 |
T |
A |
14: 52,244,163 (GRCm39) |
H627L |
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 |
|
|
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 |
|
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'- TGAAGTGTAAAGCTCACACGGACTG -3'
(R):5'- GCTCCATCTACACACGATTAGCTCC -3'
Sequencing Primer
(F):5'- GGACTGTCTGGGTCAGAAC -3'
(R):5'- acaactaaaatcactcaactcactc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation