Incidental Mutation 'IGL02588:Tnfrsf1a'
ID 299624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf1a
Ensembl Gene ENSMUSG00000030341
Gene Name tumor necrosis factor receptor superfamily, member 1a
Synonyms TNFR60, TNFAR, TNF-R-I, TNFRp55, Tnfr1, TNF-alphaR1, CD120a, TNFalpha-R1, TNFRI, TNF receptor alpha chain, p55, TNF-alpha-R1, p55-R, TNF-R1, TNF-R55
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02588
Quality Score
Status
Chromosome 6
Chromosomal Location 125326686-125339446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125337729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 229 (I229V)
Ref Sequence ENSEMBL: ENSMUSP00000032491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032491] [ENSMUST00000042647] [ENSMUST00000130257] [ENSMUST00000144524]
AlphaFold P25118
Predicted Effect probably benign
Transcript: ENSMUST00000032491
AA Change: I229V

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032491
Gene: ENSMUSG00000030341
AA Change: I229V

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 probably benign
Transcript: ENSMUST00000125880
SMART Domains Protein: ENSMUSP00000121968
Gene: ENSMUSG00000030341

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: I107V

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117470
Gene: ENSMUSG00000030341
AA Change: I107V

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
Meta Mutation Damage Score 0.0898 question?
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,933,282 (GRCm39) W258* probably null Het
Ankmy2 T C 12: 36,226,685 (GRCm39) probably benign Het
Arhgap26 G T 18: 38,734,670 (GRCm39) probably benign Het
Aspscr1 A G 11: 120,568,357 (GRCm39) D60G possibly damaging Het
Cdh15 C A 8: 123,583,291 (GRCm39) Y31* probably null Het
Cnih3 A G 1: 181,237,269 (GRCm39) R76G probably benign Het
Cplx1 C A 5: 108,673,289 (GRCm39) R44L possibly damaging Het
Dhx57 T A 17: 80,576,300 (GRCm39) I597F probably damaging Het
Dnah17 G T 11: 117,916,479 (GRCm39) F4231L possibly damaging Het
Dst T G 1: 34,156,565 (GRCm39) L173R probably damaging Het
Fezf2 A T 14: 12,343,687 (GRCm38) Y353N probably damaging Het
Ghrhr T A 6: 55,360,395 (GRCm39) L247Q probably damaging Het
Gm10912 C T 2: 103,897,197 (GRCm39) probably benign Het
Gpcpd1 A T 2: 132,376,673 (GRCm39) L541H probably damaging Het
Gpld1 C T 13: 25,127,682 (GRCm39) T28I probably damaging Het
Lmf2 A T 15: 89,239,609 (GRCm39) probably null Het
Lratd2 T C 15: 60,694,999 (GRCm39) D249G probably damaging Het
Mex3c A G 18: 73,723,116 (GRCm39) N403S probably damaging Het
Nlrp1b A T 11: 71,073,105 (GRCm39) L246* probably null Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Nlrp4c A T 7: 6,087,647 (GRCm39) D760V probably benign Het
Nlrp4g T C 9: 124,348,843 (GRCm38) noncoding transcript Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Nuggc T A 14: 65,855,226 (GRCm39) probably benign Het
Or4c122 T C 2: 89,080,042 (GRCm39) probably benign Het
Or52d1 C T 7: 103,756,260 (GRCm39) T258I possibly damaging Het
Papolg T A 11: 23,840,252 (GRCm39) I75F probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pdp2 A G 8: 105,321,536 (GRCm39) K462E possibly damaging Het
Plod1 A T 4: 147,997,747 (GRCm39) L654* probably null Het
Ppp4r3b G T 11: 29,148,853 (GRCm39) G25* probably null Het
Ptch1 T C 13: 63,659,732 (GRCm39) D1307G probably benign Het
Ranbp17 A G 11: 33,167,361 (GRCm39) V1034A probably benign Het
Rbl2 T A 8: 91,813,712 (GRCm39) L319Q probably damaging Het
Retnlg A G 16: 48,693,255 (GRCm39) T11A probably benign Het
Rfc3 A T 5: 151,566,381 (GRCm39) F356Y possibly damaging Het
Rnf213 G T 11: 119,307,362 (GRCm39) C674F probably benign Het
Shcbp1l A G 1: 153,304,411 (GRCm39) K157E probably benign Het
Slc22a17 A G 14: 55,145,451 (GRCm39) C233R probably damaging Het
Slc38a9 A G 13: 112,834,511 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St14 C A 9: 31,001,329 (GRCm39) probably benign Het
Sympk G A 7: 18,776,550 (GRCm39) V481M probably benign Het
Timeless T A 10: 128,079,203 (GRCm39) L350Q probably damaging Het
Ugt3a1 A T 15: 9,361,542 (GRCm39) H106L probably benign Het
Zbtb45 A T 7: 12,740,204 (GRCm39) C470* probably null Het
Other mutations in Tnfrsf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Tnfrsf1a APN 6 125,333,827 (GRCm39) missense probably damaging 1.00
IGL02468:Tnfrsf1a APN 6 125,334,824 (GRCm39) missense probably benign 0.06
R1302:Tnfrsf1a UTSW 6 125,333,879 (GRCm39) missense probably damaging 1.00
R2189:Tnfrsf1a UTSW 6 125,334,768 (GRCm39) missense probably benign 0.42
R4559:Tnfrsf1a UTSW 6 125,337,729 (GRCm39) missense probably benign 0.44
R4794:Tnfrsf1a UTSW 6 125,335,047 (GRCm39) missense probably damaging 1.00
R5039:Tnfrsf1a UTSW 6 125,337,675 (GRCm39) missense possibly damaging 0.67
R5364:Tnfrsf1a UTSW 6 125,334,356 (GRCm39) missense possibly damaging 0.87
R5792:Tnfrsf1a UTSW 6 125,335,040 (GRCm39) missense probably damaging 1.00
R6742:Tnfrsf1a UTSW 6 125,333,911 (GRCm39) missense probably damaging 0.99
R7018:Tnfrsf1a UTSW 6 125,333,914 (GRCm39) missense probably damaging 1.00
R7128:Tnfrsf1a UTSW 6 125,338,499 (GRCm39) missense probably benign 0.11
R7192:Tnfrsf1a UTSW 6 125,338,559 (GRCm39) missense unknown
R7715:Tnfrsf1a UTSW 6 125,338,377 (GRCm39) missense possibly damaging 0.65
R8745:Tnfrsf1a UTSW 6 125,338,745 (GRCm39) missense probably damaging 0.99
R8755:Tnfrsf1a UTSW 6 125,334,768 (GRCm39) missense probably benign 0.42
R8856:Tnfrsf1a UTSW 6 125,334,688 (GRCm39) missense possibly damaging 0.85
R9005:Tnfrsf1a UTSW 6 125,333,878 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16