Incidental Mutation 'R8093:Tnf'
ID 630026
Institutional Source Beutler Lab
Gene Symbol Tnf
Ensembl Gene ENSMUSG00000024401
Gene Name tumor necrosis factor
Synonyms DIF, TNF alpha, TNFalpha, Tnfsf1a, Tnfa, tumor necrosis factor-alpha, TNF-alpha
MMRRC Submission 067525-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8093 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35418357-35420983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35420072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 77 (T77A)
Ref Sequence ENSEMBL: ENSMUSP00000025263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025262] [ENSMUST00000025263] [ENSMUST00000025266] [ENSMUST00000167924] [ENSMUST00000173600]
AlphaFold P06804
PDB Structure 1.4 A RESOLUTION STRUCTURE OF MOUSE TUMOR NECROSIS FACTOR, TOWARDS MODULATION OF ITS SELCTIVITY AND TRIMERISATION [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025262
SMART Domains Protein: ENSMUSP00000025262
Gene: ENSMUSG00000024399

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
TNF 154 305 8.76e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025263
AA Change: T77A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000025263
Gene: ENSMUSG00000024401
AA Change: T77A

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 91 235 1.59e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025266
SMART Domains Protein: ENSMUSP00000025266
Gene: ENSMUSG00000024402

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
TNF 60 202 5.38e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167924
AA Change: T77A

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126122
Gene: ENSMUSG00000024401
AA Change: T77A

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 74 219 2.8e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173600
SMART Domains Protein: ENSMUSP00000134706
Gene: ENSMUSG00000024399

DomainStartEndE-ValueType
TNF 33 184 8.76e-42 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. Members of this family are classified based on primary sequence, function, and structure. This protein is synthesized as a type-II transmembrane protein and is reported to be cleaved into products that exert distinct biological functions. It plays an important role in the innate immune response as well as regulating homeostasis but is also implicated in diseases of chronic inflammation. In mouse deficiency of this gene is associated with defects in response to bacterial infection, with defects in forming organized follicular dendritic cell networks and germinal centers, and with a lack of primary B cell follicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mutations at this locus primarily affect the immune system, causing increased susceptibility to infection, failure to form splenic B-cell follicles, increased inflammation and impaired contact hypersensitivity. Homozygotes also may show metabolic defects. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Targeted(20) Spontaneous(2) Chemically induced(1)             
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,669,368 (GRCm39) T745S possibly damaging Het
Abca12 T C 1: 71,319,552 (GRCm39) I1777V probably benign Het
Abhd6 T C 14: 8,028,353 (GRCm38) L28P probably damaging Het
Angpt1 T A 15: 42,339,873 (GRCm39) E279D probably benign Het
Arfgef2 A G 2: 166,736,577 (GRCm39) M1750V probably benign Het
Atrn T C 2: 130,817,908 (GRCm39) F821L probably benign Het
Cbx3 A G 6: 51,458,748 (GRCm39) E71G possibly damaging Het
Ccdc14 G A 16: 34,530,022 (GRCm39) A482T probably damaging Het
Cdh15 G T 8: 123,593,574 (GRCm39) A723S probably damaging Het
Cyp2a12 A G 7: 26,736,054 (GRCm39) S488G probably damaging Het
Ddx55 C A 5: 124,694,883 (GRCm39) H104N possibly damaging Het
Det1 G T 7: 78,493,257 (GRCm39) T249N possibly damaging Het
Disp3 A G 4: 148,354,973 (GRCm39) S348P possibly damaging Het
Dnah6 T G 6: 73,137,896 (GRCm39) N936T probably damaging Het
Dnajc11 A T 4: 152,054,357 (GRCm39) N188Y probably damaging Het
Etaa1 G A 11: 17,897,559 (GRCm39) T186I possibly damaging Het
Fhip1a T C 3: 85,580,111 (GRCm39) D698G probably benign Het
Ftl1-ps1 T A 13: 74,555,138 (GRCm39) V139E probably benign Het
Fzd10 A G 5: 128,679,303 (GRCm39) K341R probably benign Het
Galnt7 A G 8: 57,985,739 (GRCm39) Y544H probably benign Het
Gm21190 T A 5: 15,730,814 (GRCm39) I181F possibly damaging Het
Gm3604 T C 13: 62,517,363 (GRCm39) N332D probably damaging Het
Gm47996 G T 1: 151,086,055 (GRCm39) E45D possibly damaging Het
Gm5475 T A 15: 100,321,893 (GRCm39) L14Q unknown Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr182 T C 10: 127,586,783 (GRCm39) Y56C probably damaging Het
Gxylt2 T A 6: 100,710,188 (GRCm39) W110R probably damaging Het
Hivep3 G T 4: 119,952,632 (GRCm39) R316L possibly damaging Het
Hnf1a T C 5: 115,093,336 (GRCm39) T310A probably benign Het
Igkv6-32 A G 6: 70,051,547 (GRCm39) F8L probably benign Het
Kcnq1 A G 7: 142,916,389 (GRCm39) N550D probably damaging Het
Lrrc40 T G 3: 157,757,419 (GRCm39) Y249* probably null Het
Lrrc43 T A 5: 123,639,192 (GRCm39) M407K probably benign Het
Map2k6 A C 11: 110,373,411 (GRCm39) E21D probably benign Het
Mcoln1 T A 8: 3,558,740 (GRCm39) I246N possibly damaging Het
Msantd5f6 A T 4: 73,321,759 (GRCm39) V92E probably damaging Het
Myh2 A G 11: 67,079,536 (GRCm39) K998E probably damaging Het
Myo1b C T 1: 51,797,034 (GRCm39) probably null Het
Numbl T A 7: 26,980,461 (GRCm39) M481K possibly damaging Het
Nxpe4 G T 9: 48,307,852 (GRCm39) V319F probably benign Het
Pam C A 1: 97,813,357 (GRCm39) D358Y probably damaging Het
Papola A G 12: 105,775,836 (GRCm39) M251V probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Prelid2 A G 18: 42,065,700 (GRCm39) S112P probably damaging Het
Ptgfrn T C 3: 100,963,753 (GRCm39) T620A probably benign Het
Ptgfrn C T 3: 100,980,257 (GRCm39) R361Q probably benign Het
Pygm T A 19: 6,436,072 (GRCm39) M148K probably damaging Het
Ren1 T A 1: 133,287,812 (GRCm39) I382N probably damaging Het
Rev1 T C 1: 38,114,097 (GRCm39) probably benign Het
Sdsl T C 5: 120,598,017 (GRCm39) K159E probably benign Het
Serinc4 T C 2: 121,285,434 (GRCm39) N203S possibly damaging Het
Slc12a2 A G 18: 58,012,423 (GRCm39) H182R probably benign Het
Sned1 C A 1: 93,202,387 (GRCm39) T677K possibly damaging Het
Ston2 G A 12: 91,710,460 (GRCm39) T3I probably damaging Het
Trav6-2 G A 14: 52,905,126 (GRCm39) G49E probably benign Het
Trav7-4 A T 14: 53,699,140 (GRCm39) I96F probably damaging Het
Trmu T A 15: 85,766,921 (GRCm39) D43E probably benign Het
Uggt1 T A 1: 36,266,566 (GRCm39) Q136L probably damaging Het
Ugt1a5 T A 1: 88,094,304 (GRCm39) Y177* probably null Het
Vmn1r126 T C 7: 21,034,516 (GRCm39) R293G probably damaging Het
Vmn2r89 A G 14: 51,693,699 (GRCm39) I350V probably benign Het
Vps11 A T 9: 44,267,529 (GRCm39) L361Q probably damaging Het
Zfp467 A G 6: 48,420,366 (GRCm39) L5P possibly damaging Het
Zfp652 A G 11: 95,640,288 (GRCm39) H71R probably damaging Het
Zfp804b T C 5: 6,820,082 (GRCm39) K994E probably benign Het
Other mutations in Tnf
AlleleSourceChrCoordTypePredicted EffectPPH Score
Dome UTSW 17 35,420,650 (GRCm39) missense probably damaging 0.99
Panr1 UTSW 17 35,419,180 (GRCm39) missense probably damaging 1.00
R0783:Tnf UTSW 17 35,420,650 (GRCm39) missense probably damaging 0.99
R0815:Tnf UTSW 17 35,420,120 (GRCm39) unclassified probably benign
R0863:Tnf UTSW 17 35,420,120 (GRCm39) unclassified probably benign
R2195:Tnf UTSW 17 35,420,089 (GRCm39) splice site probably null
R2570:Tnf UTSW 17 35,419,476 (GRCm39) missense probably damaging 0.99
R4660:Tnf UTSW 17 35,419,156 (GRCm39) missense probably benign 0.00
R6670:Tnf UTSW 17 35,420,800 (GRCm39) missense possibly damaging 0.73
R7319:Tnf UTSW 17 35,419,347 (GRCm39) missense possibly damaging 0.58
R7708:Tnf UTSW 17 35,419,134 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- ATCTTACCTACGACGTGGGC -3'
(R):5'- CCGTGGGTTGGACAGATGAATG -3'

Sequencing Primer
(F):5'- TTACCTACGACGTGGGCTACAG -3'
(R):5'- TGGGTTGGACAGATGAATGAATGAAG -3'
Posted On 2020-06-30