Incidental Mutation 'R0543:Tnfrsf21'
| ID |
50080 |
| 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 |
038735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R0543 (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: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,431,278 (GRCm39) |
|
probably null |
Het |
| Apol9b |
A |
G |
15: 77,619,840 (GRCm39) |
N212S |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,085 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
G |
A |
3: 37,050,607 (GRCm39) |
S2981N |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,900,041 (GRCm39) |
K200* |
probably null |
Het |
| Ccser2 |
A |
T |
14: 36,662,149 (GRCm39) |
M345K |
probably benign |
Het |
| Cdcp2 |
A |
T |
4: 106,954,873 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
C |
3: 144,454,155 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,246,051 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,075,326 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,244,325 (GRCm39) |
F1035S |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,920 (GRCm39) |
S998C |
probably damaging |
Het |
| Ecrg4 |
C |
A |
1: 43,781,449 (GRCm39) |
N110K |
possibly damaging |
Het |
| Enox1 |
T |
C |
14: 77,744,399 (GRCm39) |
|
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,887,054 (GRCm39) |
M1V |
probably null |
Het |
| Fuca2 |
T |
A |
10: 13,378,870 (GRCm39) |
Y5N |
probably damaging |
Het |
| Git2 |
G |
T |
5: 114,883,592 (GRCm39) |
H42Q |
probably damaging |
Het |
| Gm7964 |
G |
A |
7: 83,405,602 (GRCm39) |
|
noncoding transcript |
Het |
| Hars2 |
G |
A |
18: 36,922,477 (GRCm39) |
E337K |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,956,194 (GRCm39) |
R797G |
probably benign |
Het |
| Hnf1a |
G |
A |
5: 115,088,803 (GRCm39) |
S571L |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,320 (GRCm39) |
Y4C |
probably damaging |
Het |
| Inpp4a |
G |
A |
1: 37,408,573 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,492,709 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
A |
2: 79,474,850 (GRCm39) |
S270T |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,537,352 (GRCm39) |
P1037T |
probably damaging |
Het |
| Lyg2 |
T |
A |
1: 37,950,188 (GRCm39) |
M47L |
possibly damaging |
Het |
| Macf1 |
G |
T |
4: 123,270,171 (GRCm39) |
A4648D |
probably damaging |
Het |
| Mcf2l |
T |
C |
8: 13,046,728 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
C |
T |
10: 53,417,694 (GRCm39) |
R3H |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,969 (GRCm39) |
Y244N |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,168,411 (GRCm39) |
C210S |
possibly damaging |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,058 (GRCm39) |
Y181C |
probably benign |
Het |
| Mtch2 |
T |
C |
2: 90,680,026 (GRCm39) |
V86A |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,817,457 (GRCm39) |
I446N |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,577,120 (GRCm39) |
S2207T |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,405,522 (GRCm39) |
T944A |
unknown |
Het |
| Myo15a |
A |
T |
11: 60,369,877 (GRCm39) |
H879L |
probably benign |
Het |
| Nherf4 |
A |
C |
9: 44,160,231 (GRCm39) |
H324Q |
probably damaging |
Het |
| Nkiras2 |
G |
A |
11: 100,515,018 (GRCm39) |
|
probably benign |
Het |
| Nostrin |
T |
G |
2: 69,019,475 (GRCm39) |
*507E |
probably null |
Het |
| Nup205 |
T |
C |
6: 35,175,904 (GRCm39) |
V589A |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,953,307 (GRCm39) |
I72T |
probably benign |
Het |
| Or5b21 |
G |
T |
19: 12,839,252 (GRCm39) |
V38F |
probably benign |
Het |
| Or5w17 |
C |
A |
2: 87,583,994 (GRCm39) |
L114F |
probably damaging |
Het |
| Oxct2b |
T |
A |
4: 123,010,782 (GRCm39) |
M234K |
possibly damaging |
Het |
| Pcdha1 |
A |
T |
18: 37,318,121 (GRCm39) |
I945F |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,504,410 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,887 (GRCm39) |
|
probably null |
Het |
| Plscr1 |
A |
T |
9: 92,140,099 (GRCm39) |
|
probably null |
Het |
| Prkn |
G |
A |
17: 11,286,066 (GRCm39) |
D20N |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,307,956 (GRCm39) |
E684G |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,213,199 (GRCm39) |
E870G |
probably damaging |
Het |
| Rpl22l1 |
C |
A |
3: 28,861,423 (GRCm39) |
Y103* |
probably null |
Het |
| Semp2l2b |
T |
C |
10: 21,942,823 (GRCm39) |
S386G |
possibly damaging |
Het |
| Slc38a4 |
A |
T |
15: 96,914,720 (GRCm39) |
N44K |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,623 (GRCm39) |
I93F |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,534,091 (GRCm39) |
T181M |
possibly damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,028,458 (GRCm39) |
A535V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,601,446 (GRCm39) |
Q152L |
probably benign |
Het |
| Thada |
T |
C |
17: 84,730,591 (GRCm39) |
T1036A |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,991,856 (GRCm39) |
T941S |
probably benign |
Het |
| Tppp3 |
T |
C |
8: 106,194,840 (GRCm39) |
D97G |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,690,449 (GRCm39) |
I210V |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,711,574 (GRCm39) |
L1440P |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,766,661 (GRCm39) |
Y317N |
probably damaging |
Het |
| Zdhhc5 |
T |
A |
2: 84,522,824 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
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 |
|
|
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 |
2013-06-12 |
Incidental Mutation