Incidental Mutation 'R0091:Tnfrsf21'
| ID |
60605 |
| 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 |
038378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R0091 (G1)
|
| Quality Score |
225 |
|
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: 99.1%
- 3x: 97.9%
- 10x: 94.4%
- 20x: 84.5%
|
| Validation Efficiency |
98% (86/88) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,932,179 (GRCm39) |
S278P |
possibly damaging |
Het |
| Adam11 |
A |
G |
11: 102,663,665 (GRCm39) |
Y281C |
probably damaging |
Het |
| Adam6a |
G |
T |
12: 113,507,849 (GRCm39) |
R74L |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,091,368 (GRCm39) |
|
probably null |
Het |
| Adrb2 |
A |
G |
18: 62,312,090 (GRCm39) |
L245P |
probably benign |
Het |
| Aebp2 |
T |
C |
6: 140,589,800 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,343,070 (GRCm39) |
T240A |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,423,794 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,274,213 (GRCm39) |
Y416F |
probably damaging |
Het |
| Atp5mc2 |
A |
C |
15: 102,571,492 (GRCm39) |
L133R |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,233 (GRCm39) |
Y326N |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,757,297 (GRCm39) |
S189G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,489,772 (GRCm39) |
I477N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,796,574 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,415,301 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,342,551 (GRCm39) |
N169S |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,473,974 (GRCm39) |
|
probably benign |
Het |
| Egln3 |
A |
G |
12: 54,228,432 (GRCm39) |
F225L |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,816,171 (GRCm39) |
R100Q |
possibly damaging |
Het |
| Erc2 |
A |
T |
14: 27,498,781 (GRCm39) |
|
probably null |
Het |
| Fto |
G |
A |
8: 92,168,435 (GRCm39) |
|
probably null |
Het |
| Gdap1l1 |
C |
T |
2: 163,288,011 (GRCm39) |
P80S |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,905,405 (GRCm39) |
E35G |
possibly damaging |
Het |
| Hhipl1 |
A |
G |
12: 108,288,156 (GRCm39) |
|
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,822,008 (GRCm39) |
L679Q |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,488,013 (GRCm39) |
|
probably benign |
Het |
| Inhbb |
T |
C |
1: 119,345,125 (GRCm39) |
Y388C |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,742,360 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,328,640 (GRCm39) |
V95A |
probably damaging |
Het |
| Lck |
A |
T |
4: 129,449,474 (GRCm39) |
S274R |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,376,848 (GRCm39) |
N4243I |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,043,311 (GRCm39) |
V506I |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,840,507 (GRCm39) |
C1000R |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,002,105 (GRCm39) |
D106N |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,980,503 (GRCm39) |
E49G |
probably benign |
Het |
| Mmadhc |
A |
G |
2: 50,182,869 (GRCm39) |
S36P |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,229,629 (GRCm39) |
Y433H |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,692,436 (GRCm39) |
M525V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,068,774 (GRCm39) |
R659C |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,568,364 (GRCm39) |
S171G |
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,917 (GRCm39) |
N195D |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,518 (GRCm39) |
D231E |
probably benign |
Het |
| Or5g29 |
A |
T |
2: 85,421,696 (GRCm39) |
N271Y |
probably benign |
Het |
| P2ry14 |
A |
G |
3: 59,023,314 (GRCm39) |
Y49H |
probably benign |
Het |
| Papss2 |
C |
T |
19: 32,611,302 (GRCm39) |
T17I |
possibly damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,392 (GRCm39) |
T206A |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,022,844 (GRCm39) |
E140G |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prdx2 |
T |
G |
8: 85,698,330 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,310 (GRCm39) |
L471Q |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,557,604 (GRCm39) |
D232E |
possibly damaging |
Het |
| Rnf214 |
T |
A |
9: 45,809,791 (GRCm39) |
|
probably null |
Het |
| Rora |
G |
A |
9: 69,281,330 (GRCm39) |
R314H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,168,095 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,742,402 (GRCm39) |
V58A |
probably damaging |
Het |
| Serpina3i |
C |
T |
12: 104,231,423 (GRCm39) |
T20M |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,254,537 (GRCm39) |
N578S |
probably benign |
Het |
| Soat2 |
A |
G |
15: 102,066,574 (GRCm39) |
Y285C |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,769 (GRCm39) |
Y478C |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
| Tas2r126 |
A |
T |
6: 42,412,036 (GRCm39) |
M190L |
probably benign |
Het |
| Ttc19 |
A |
G |
11: 62,199,910 (GRCm39) |
D218G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,942,800 (GRCm39) |
V629A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,968 (GRCm39) |
N521D |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,841,614 (GRCm39) |
E405G |
possibly damaging |
Het |
| Usp46 |
C |
T |
5: 74,163,918 (GRCm39) |
R246Q |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,262,075 (GRCm39) |
I352F |
possibly damaging |
Het |
| Wdr4 |
G |
A |
17: 31,715,890 (GRCm39) |
T398I |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,968,560 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
2013-07-24 |
Incidental Mutation