Incidental Mutation 'IGL01934:Tnfrsf21'
ID180565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf21
Ensembl Gene ENSMUSG00000023915
Gene Nametumor necrosis factor receptor superfamily, member 21
SynonymsDR6, TR7, Death receptor 6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL01934
Quality Score
Status
Chromosome17
Chromosomal Location43016555-43089188 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43065187 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 488 (N488I)
Ref Sequence ENSEMBL: ENSMUSP00000024708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024708]
Predicted Effect probably benign
Transcript: ENSMUST00000024708
AA Change: N488I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: N488I

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Tnfrsf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Tnfrsf21 APN 17 43037946 missense probably damaging 1.00
IGL01663:Tnfrsf21 APN 17 43087811 missense probably benign 0.13
IGL01811:Tnfrsf21 APN 17 43037613 missense probably benign
IGL01916:Tnfrsf21 APN 17 43039803 missense probably benign 0.00
IGL02184:Tnfrsf21 APN 17 43085463 missense probably benign 0.37
IGL02292:Tnfrsf21 APN 17 43039911 missense probably benign
IGL02385:Tnfrsf21 APN 17 43040051 missense probably damaging 1.00
IGL02710:Tnfrsf21 APN 17 43087929 missense probably damaging 0.97
IGL03001:Tnfrsf21 APN 17 43087895 missense probably damaging 0.99
IGL03003:Tnfrsf21 APN 17 43039943 missense probably damaging 1.00
palmer_park UTSW 17 43038010 missense probably damaging 1.00
PIT4480001:Tnfrsf21 UTSW 17 43037911 missense probably benign 0.00
R0007:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0046:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0088:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0091:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0102:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0102:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0103:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0105:Tnfrsf21 UTSW 17 43040191 critical splice donor site probably null
R0105:Tnfrsf21 UTSW 17 43040191 critical splice donor site probably null
R0206:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0211:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0240:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0243:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0308:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0363:Tnfrsf21 UTSW 17 43037877 missense probably benign 0.01
R0456:Tnfrsf21 UTSW 17 43038091 missense probably benign 0.01
R0522:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0523:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0525:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0528:Tnfrsf21 UTSW 17 43037614 missense probably benign
R0543:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0549:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0550:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0699:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0724:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0734:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0847:Tnfrsf21 UTSW 17 43038213 missense probably benign
R0880:Tnfrsf21 UTSW 17 43037842 nonsense probably null
R1591:Tnfrsf21 UTSW 17 43085374 missense probably benign 0.01
R2069:Tnfrsf21 UTSW 17 43037938 missense possibly damaging 0.67
R2153:Tnfrsf21 UTSW 17 43087872 missense probably damaging 1.00
R2323:Tnfrsf21 UTSW 17 43085529 nonsense probably null
R3941:Tnfrsf21 UTSW 17 43038010 missense probably damaging 1.00
R4438:Tnfrsf21 UTSW 17 43087842 missense possibly damaging 0.49
R4509:Tnfrsf21 UTSW 17 43085388 missense probably benign 0.00
R4510:Tnfrsf21 UTSW 17 43065019 missense probably damaging 0.98
R4511:Tnfrsf21 UTSW 17 43065019 missense probably damaging 0.98
R4708:Tnfrsf21 UTSW 17 43038232 missense possibly damaging 0.66
R4721:Tnfrsf21 UTSW 17 43085504 missense probably damaging 1.00
R4811:Tnfrsf21 UTSW 17 43037730 missense probably benign 0.00
R5437:Tnfrsf21 UTSW 17 43037862 missense possibly damaging 0.55
R5767:Tnfrsf21 UTSW 17 43037659 missense probably damaging 0.98
R6057:Tnfrsf21 UTSW 17 43039715 missense possibly damaging 0.86
R6392:Tnfrsf21 UTSW 17 43017088 missense probably benign 0.00
R6860:Tnfrsf21 UTSW 17 43017066 missense probably benign
R7253:Tnfrsf21 UTSW 17 43037667 missense probably benign 0.00
R7288:Tnfrsf21 UTSW 17 43037818 missense possibly damaging 0.86
R7643:Tnfrsf21 UTSW 17 43037916 missense probably benign 0.00
R7937:Tnfrsf21 UTSW 17 43037925 missense probably benign 0.01
R8098:Tnfrsf21 UTSW 17 43039899 missense probably benign
V3553:Tnfrsf21 UTSW 17 43037931 missense probably benign 0.00
Posted On2014-05-07