Incidental Mutation 'R1738:Tnfrsf14'
ID 199851
Institutional Source Beutler Lab
Gene Symbol Tnfrsf14
Ensembl Gene ENSMUSG00000042333
Gene Name tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)
Synonyms Hvem, Atar, HveA
MMRRC Submission 039770-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1738 (G1)
Quality Score 141
Status Not validated
Chromosome 4
Chromosomal Location 155006390-155013020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155009788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 47 (D47G)
Ref Sequence ENSEMBL: ENSMUSP00000117890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123514] [ENSMUST00000137803] [ENSMUST00000145296] [ENSMUST00000152687] [ENSMUST00000219534]
AlphaFold Q80WM9
Predicted Effect probably damaging
Transcript: ENSMUST00000045919
AA Change: D131G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045240
Gene: ENSMUSG00000042333
AA Change: D131G

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
TNFR 42 75 1.19e-2 SMART
TNFR 78 119 1.61e-8 SMART
TNFR 121 162 2.49e-5 SMART
TNFR 165 203 2.63e-4 SMART
transmembrane domain 208 230 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123514
AA Change: D131G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116757
Gene: ENSMUSG00000042333
AA Change: D131G

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
TNFR 42 75 1.19e-2 SMART
TNFR 78 119 1.61e-8 SMART
TNFR 121 162 2.49e-5 SMART
TNFR 165 203 2.63e-4 SMART
transmembrane domain 208 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137803
AA Change: D76G

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000145296
Predicted Effect probably damaging
Transcript: ENSMUST00000152687
AA Change: D47G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117890
Gene: ENSMUSG00000042333
AA Change: D47G

DomainStartEndE-ValueType
TNFR 37 78 2.49e-5 SMART
TNFR 81 119 2.63e-4 SMART
transmembrane domain 123 145 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000219534
AA Change: D131G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.7%
  • 20x: 89.9%
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 TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,682,475 (GRCm39) Y202C probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgrl3 T G 5: 81,535,826 (GRCm39) M155R probably damaging Het
Ak9 A T 10: 41,211,917 (GRCm39) Q218L possibly damaging Het
Akap13 G A 7: 75,326,942 (GRCm39) G647D probably damaging Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Arhgap19 A G 19: 41,772,820 (GRCm39) I291T probably benign Het
BC049715 C T 6: 136,817,306 (GRCm39) P182L probably damaging Het
Bsn T C 9: 107,984,133 (GRCm39) D3307G unknown Het
Cby2 C T 14: 75,830,497 (GRCm39) M1I probably null Het
Ces2h T A 8: 105,745,697 (GRCm39) probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Col4a2 T A 8: 11,496,238 (GRCm39) F1620I probably damaging Het
Col6a3 T C 1: 90,744,083 (GRCm39) E88G probably damaging Het
Coro6 A G 11: 77,360,251 (GRCm39) D407G probably benign Het
Cpe A T 8: 65,064,475 (GRCm39) F241L probably damaging Het
Csde1 A G 3: 102,936,493 (GRCm39) probably benign Het
Cspg4b T G 13: 113,504,034 (GRCm39) L179R possibly damaging Het
Dgki A G 6: 37,034,367 (GRCm39) I361T possibly damaging Het
Dnah3 A G 7: 119,634,582 (GRCm39) V1298A probably damaging Het
Duox2 T A 2: 122,123,895 (GRCm39) I430F probably damaging Het
Gak T C 5: 108,764,842 (GRCm39) Y153C probably damaging Het
Gal3st2 T A 1: 93,802,318 (GRCm39) probably null Het
Gbp11 T C 5: 105,474,510 (GRCm39) N389D probably benign Het
Grm1 A G 10: 10,812,163 (GRCm39) V287A probably damaging Het
Hsp90ab1 T C 17: 45,882,732 (GRCm39) K36E probably damaging Het
Il24 T A 1: 130,815,099 (GRCm39) probably null Het
Ino80d T C 1: 63,132,624 (GRCm39) D13G probably damaging Het
Ipp G A 4: 116,387,618 (GRCm39) V399I probably benign Het
Kank3 A T 17: 34,036,168 (GRCm39) D12V probably damaging Het
Lcn12 A T 2: 25,383,263 (GRCm39) S74R probably damaging Het
Mast3 T C 8: 71,237,200 (GRCm39) T637A probably benign Het
Nes C A 3: 87,883,728 (GRCm39) Y662* probably null Het
Nudt13 A T 14: 20,359,762 (GRCm39) H163L probably damaging Het
Or1j17 T C 2: 36,578,797 (GRCm39) V261A probably benign Het
Or4a2 T C 2: 89,248,362 (GRCm39) T132A probably benign Het
Or4p7 G A 2: 88,221,671 (GRCm39) V27I probably benign Het
Or8k1 A T 2: 86,048,060 (GRCm39) probably null Het
Pde6b C T 5: 108,578,425 (GRCm39) R788* probably null Het
Pex13 A G 11: 23,599,458 (GRCm39) L351P probably benign Het
Phc1 A G 6: 122,295,525 (GRCm39) M942T probably damaging Het
Plch1 A T 3: 63,626,659 (GRCm39) D571E probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhh2 A G 17: 84,874,125 (GRCm39) N470S possibly damaging Het
Primpol A G 8: 47,060,873 (GRCm39) S82P probably damaging Het
Prkg1 T C 19: 30,764,322 (GRCm39) D256G possibly damaging Het
Prune2 A G 19: 17,102,374 (GRCm39) E2511G probably benign Het
Rassf8 T C 6: 145,761,034 (GRCm39) I120T probably benign Het
Rfx4 G A 10: 84,716,839 (GRCm39) probably null Het
Rtp2 A T 16: 23,746,423 (GRCm39) N69K probably benign Het
Sh3d19 A T 3: 86,027,913 (GRCm39) I597F probably damaging Het
Sorl1 T A 9: 42,001,261 (GRCm39) E246D probably benign Het
Tet2 T A 3: 133,187,148 (GRCm39) I1094L probably benign Het
Tlr4 A T 4: 66,759,313 (GRCm39) H702L probably benign Het
Ttn T C 2: 76,777,157 (GRCm39) Y1415C probably damaging Het
Vmn2r17 T A 5: 109,576,377 (GRCm39) F416Y probably benign Het
Vmn2r54 A G 7: 12,369,815 (GRCm39) S83P probably benign Het
Vtn A G 11: 78,390,422 (GRCm39) D53G possibly damaging Het
Vwde A T 6: 13,190,723 (GRCm39) V456D probably damaging Het
Wdr91 G A 6: 34,861,243 (GRCm39) P653L probably damaging Het
Ythdf1 G A 2: 180,553,285 (GRCm39) A283V probably benign Het
Zfp975 C A 7: 42,312,373 (GRCm39) W80L probably benign Het
Other mutations in Tnfrsf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02680:Tnfrsf14 APN 4 155,008,927 (GRCm39) nonsense probably null
che UTSW 4 155,009,837 (GRCm39) nonsense probably null
fidel UTSW 4 155,011,118 (GRCm39) missense probably damaging 1.00
trotter UTSW 4 155,011,055 (GRCm39) critical splice donor site probably null
R0271:Tnfrsf14 UTSW 4 155,011,054 (GRCm39) critical splice donor site probably null
R0605:Tnfrsf14 UTSW 4 155,009,837 (GRCm39) nonsense probably null
R1756:Tnfrsf14 UTSW 4 155,009,779 (GRCm39) missense possibly damaging 0.90
R5371:Tnfrsf14 UTSW 4 155,006,934 (GRCm39) splice site probably null
R5869:Tnfrsf14 UTSW 4 155,011,055 (GRCm39) critical splice donor site probably null
R6113:Tnfrsf14 UTSW 4 155,008,949 (GRCm39) missense possibly damaging 0.64
R7790:Tnfrsf14 UTSW 4 155,007,750 (GRCm39) missense probably benign 0.00
R8015:Tnfrsf14 UTSW 4 155,011,118 (GRCm39) missense probably damaging 1.00
R8354:Tnfrsf14 UTSW 4 155,011,112 (GRCm39) missense possibly damaging 0.91
R8454:Tnfrsf14 UTSW 4 155,011,112 (GRCm39) missense possibly damaging 0.91
R8738:Tnfrsf14 UTSW 4 155,007,710 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- CCTGTCATGCCAACCTATAGCACTC -3'
(R):5'- TAGGTAGCCTCTGGCAAGTGAAGC -3'

Sequencing Primer
(F):5'- CTCTTGCTGCCAGGACTG -3'
(R):5'- CTGGCAAGTGAAGCTGTGC -3'
Posted On 2014-05-23