Incidental Mutation 'IGL02468:Tnfrsf1a'
ID294628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf1a
Ensembl Gene ENSMUSG00000030341
Gene Nametumor necrosis factor receptor superfamily, member 1a
SynonymsCD120a, TNFalpha-R1, TNF-R1, p55-R, TNF receptor alpha chain, TNF-R55, TNFRI, TNFRp55, TNFAR, TNFR60, TNF-R-I, Tnfr1, p55, TNF-alpha-R1, TNF-alphaR1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02468
Quality Score
Status
Chromosome6
Chromosomal Location125349362-125362484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 125357861 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 33 (T33A)
Ref Sequence ENSEMBL: ENSMUSP00000117470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032491] [ENSMUST00000042647] [ENSMUST00000130257] [ENSMUST00000144524]
Predicted Effect probably benign
Transcript: ENSMUST00000032491
AA Change: T155A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032491
Gene: ENSMUSG00000030341
AA Change: T155A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TNFR 44 81 2.4e-7 SMART
TNFR 84 125 2.19e-10 SMART
TNFR 127 166 5.43e-6 SMART
TNFR 168 195 3.41e1 SMART
transmembrane domain 212 234 N/A INTRINSIC
low complexity region 263 276 N/A INTRINSIC
low complexity region 290 301 N/A INTRINSIC
DEATH 345 441 8.04e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042647
SMART Domains Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167

DomainStartEndE-ValueType
RhoGEF 165 352 1.5e-44 SMART
PH 410 511 8.99e-7 SMART
low complexity region 535 557 N/A INTRINSIC
low complexity region 627 648 N/A INTRINSIC
low complexity region 719 731 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000125880
AA Change: T71A
SMART Domains Protein: ENSMUSP00000121968
Gene: ENSMUSG00000030341
AA Change: T71A

DomainStartEndE-ValueType
TNFR 2 42 2.09e-7 SMART
TNFR 44 83 5.43e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130257
SMART Domains Protein: ENSMUSP00000115991
Gene: ENSMUSG00000030341

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:TNFR_c6 44 66 1.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134803
Predicted Effect probably benign
Transcript: ENSMUST00000144524
AA Change: T33A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117470
Gene: ENSMUSG00000030341
AA Change: T33A

DomainStartEndE-ValueType
TNFR 5 44 5.43e-6 SMART
TNFR 46 73 3.41e1 SMART
transmembrane domain 90 112 N/A INTRINSIC
low complexity region 141 154 N/A INTRINSIC
low complexity region 168 179 N/A INTRINSIC
Blast:DEATH 223 295 1e-13 BLAST
SCOP:d1icha_ 269 295 3e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mice lacking a functional copy of this gene exhibit impaired immune function. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit disrupted splenic architecture, increased adult liver weights, reduced IgG immune response, deficits in some host defense and inflammatory responses, LPS resistance, and reduced graft-vs-host disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930404N11Rik G T 10: 81,365,729 L20I possibly damaging Het
Adgrl2 A T 3: 148,890,480 D73E probably damaging Het
Aspm A G 1: 139,480,950 Y2525C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep89 T G 7: 35,403,152 S97A probably benign Het
Clec16a T A 16: 10,741,878 I1005N probably benign Het
Cog5 T C 12: 31,837,358 probably null Het
Crybg2 T C 4: 134,082,587 S1217P probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cytip A T 2: 58,134,013 M265K probably benign Het
Ddx60 T G 8: 61,958,642 S509R probably damaging Het
Fat4 T C 3: 38,983,046 S3616P probably benign Het
Galnt9 T C 5: 110,614,223 F409S possibly damaging Het
Hrh2 T C 13: 54,214,809 V268A probably benign Het
Ifi47 T A 11: 49,095,983 S192R probably damaging Het
Igdcc4 T C 9: 65,126,832 Y596H probably damaging Het
Lamb2 T C 9: 108,487,149 C1096R probably damaging Het
March1 A G 8: 66,418,911 Q109R probably damaging Het
Olfr1389 A T 11: 49,431,114 I213F probably damaging Het
Olfr39 T C 9: 20,286,278 L201P probably damaging Het
Olfr851 G T 9: 19,497,177 C143F probably benign Het
Patl1 T A 19: 11,932,210 V500D probably damaging Het
Pbx3 A T 2: 34,224,577 L57H probably damaging Het
Pcdhb1 T C 18: 37,266,178 V394A probably benign Het
Pogz A G 3: 94,879,083 N994S probably damaging Het
Prom1 T A 5: 44,029,698 M406L probably benign Het
Psg26 T C 7: 18,478,462 S323G probably damaging Het
Ptprm T C 17: 66,814,509 T854A probably benign Het
Puf60 A C 15: 76,075,836 probably benign Het
Six2 C T 17: 85,685,503 E191K possibly damaging Het
Tbc1d17 A G 7: 44,848,329 F40L probably benign Het
Thsd7a A G 6: 12,318,171 V1600A probably damaging Het
Tm4sf19 C A 16: 32,407,715 probably benign Het
Troap A T 15: 99,075,361 T3S possibly damaging Het
Wdfy4 T A 14: 32,966,432 I3074L probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Tnfrsf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Tnfrsf1a APN 6 125356864 missense probably damaging 1.00
IGL02588:Tnfrsf1a APN 6 125360766 missense probably benign 0.44
R1302:Tnfrsf1a UTSW 6 125356916 missense probably damaging 1.00
R2189:Tnfrsf1a UTSW 6 125357805 missense probably benign 0.42
R4559:Tnfrsf1a UTSW 6 125360766 missense probably benign 0.44
R4794:Tnfrsf1a UTSW 6 125358084 missense probably damaging 1.00
R5039:Tnfrsf1a UTSW 6 125360712 missense possibly damaging 0.67
R5364:Tnfrsf1a UTSW 6 125357393 missense possibly damaging 0.87
R5792:Tnfrsf1a UTSW 6 125358077 missense probably damaging 1.00
R6742:Tnfrsf1a UTSW 6 125356948 missense probably damaging 0.99
R7018:Tnfrsf1a UTSW 6 125356951 missense probably damaging 1.00
R7128:Tnfrsf1a UTSW 6 125361536 missense probably benign 0.11
R7192:Tnfrsf1a UTSW 6 125361596 missense unknown
R7715:Tnfrsf1a UTSW 6 125361414 missense possibly damaging 0.65
Posted On2015-04-16