Incidental Mutation 'IGL01987:Tnfrsf1a'
ID 181955
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 # IGL01987
Quality Score
Status
Chromosome 6
Chromosomal Location 125326686-125339446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125333827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 27 (V27I)
Ref Sequence ENSEMBL: ENSMUSP00000032491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032491] [ENSMUST00000130257] [ENSMUST00000144524]
AlphaFold P25118
Predicted Effect probably damaging
Transcript: ENSMUST00000032491
AA Change: V27I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032491
Gene: ENSMUSG00000030341
AA Change: V27I

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: 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 unknown
Transcript: ENSMUST00000130257
AA Change: V27I
SMART Domains Protein: ENSMUSP00000115991
Gene: ENSMUSG00000030341
AA Change: V27I

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
SMART Domains Protein: ENSMUSP00000117470
Gene: ENSMUSG00000030341

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably damaging Het
Other mutations in Tnfrsf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02468:Tnfrsf1a APN 6 125,334,824 (GRCm39) missense probably benign 0.06
IGL02588:Tnfrsf1a APN 6 125,337,729 (GRCm39) missense probably benign 0.44
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 2014-05-07