Incidental Mutation 'IGL01916:Tnfrsf21'
ID179926
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: 0.131) question?
Stock #IGL01916
Quality Score
Status
Chromosome17
Chromosomal Location43016555-43089188 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43039803 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 286 (E286V)
Ref Sequence ENSEMBL: ENSMUSP00000024708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024708]
Predicted Effect probably benign
Transcript: ENSMUST00000024708
AA Change: E286V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: E286V

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,794,111 T187A probably damaging Het
A430005L14Rik C A 4: 153,961,540 F214L possibly damaging Het
A830018L16Rik C A 1: 11,748,107 probably benign Het
Adgrd1 T C 5: 129,132,838 S342P probably benign Het
Aldh4a1 A G 4: 139,644,146 Y457C probably damaging Het
Ankrd7 A T 6: 18,868,251 E124V possibly damaging Het
Atad5 T A 11: 80,112,839 probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Card14 T C 11: 119,343,145 Y854H probably benign Het
Ccdc85c T C 12: 108,207,844 H355R probably damaging Het
Ccr3 T A 9: 124,029,552 V308D probably damaging Het
Cep170 T C 1: 176,739,910 probably benign Het
Cmtr2 C A 8: 110,221,948 Q297K probably benign Het
Col19a1 A C 1: 24,534,241 L150R unknown Het
Cwf19l2 T C 9: 3,477,869 I858T possibly damaging Het
Cyp39a1 C T 17: 43,731,050 P383S probably damaging Het
Ddi2 C T 4: 141,695,398 probably benign Het
Dnah17 T G 11: 118,125,288 I342L probably benign Het
Efhc1 T C 1: 20,978,749 I462T probably damaging Het
Ephx4 A T 5: 107,406,030 probably null Het
Fam193b A G 13: 55,550,218 probably benign Het
Fbn1 T C 2: 125,315,446 N2306D possibly damaging Het
Folr1 A T 7: 101,858,740 H164Q probably benign Het
Fut10 T C 8: 31,235,706 V163A probably benign Het
Gal3st4 G A 5: 138,270,935 R83C probably damaging Het
Galnt16 T C 12: 80,592,490 probably null Het
Gata5 G A 2: 180,326,941 S380F possibly damaging Het
Gm1966 T G 7: 106,601,826 H737P probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4787 A T 12: 81,377,444 L647M probably benign Het
Hcfc2 A G 10: 82,734,383 K523E possibly damaging Het
Igkv6-15 A T 6: 70,406,474 Y114* probably null Het
Il10ra A T 9: 45,256,146 L369Q probably damaging Het
Il6st A G 13: 112,480,072 K51R possibly damaging Het
Kif26a C T 12: 112,176,894 P1194L possibly damaging Het
Kntc1 T G 5: 123,801,913 L1590R probably damaging Het
Lipo1 G T 19: 33,784,782 A105E probably damaging Het
Macf1 T A 4: 123,441,630 S4382C probably damaging Het
Macf1 C T 4: 123,476,037 E79K probably damaging Het
Nmnat2 T C 1: 153,094,046 I195T probably damaging Het
Olfr741 A G 14: 50,485,493 T12A probably benign Het
Pcdhb13 A G 18: 37,443,861 T431A possibly damaging Het
Pcgf3 G A 5: 108,486,179 G101D probably benign Het
Phip T C 9: 82,890,469 D1070G possibly damaging Het
Ren1 A G 1: 133,358,412 H231R probably benign Het
Sox9 C A 11: 112,784,674 Q230K probably benign Het
Stard9 T A 2: 120,668,016 Y154N probably damaging Het
Thnsl1 A T 2: 21,212,665 N410I possibly damaging Het
Trbv13-1 A G 6: 41,116,312 R60G probably damaging Het
Ttc30a1 C A 2: 75,980,879 V287L probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wrn T A 8: 33,257,224 I1110F possibly damaging Het
Zfp777 G T 6: 48,025,342 R649S probably damaging Het
Zmym6 T A 4: 127,123,756 I1110N probably 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
IGL01934:Tnfrsf21 APN 17 43065187 missense probably benign 0.15
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
V3553:Tnfrsf21 UTSW 17 43037931 missense probably benign 0.00
Posted On2014-05-07