Incidental Mutation 'R5869:Tnfrsf14'
ID 454319
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 044077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5869 (G1)
Quality Score 167
Status Validated
Chromosome 4
Chromosomal Location 155006390-155013020 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 155011055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123514] [ENSMUST00000137803] [ENSMUST00000145296] [ENSMUST00000152687] [ENSMUST00000219534]
AlphaFold Q80WM9
Predicted Effect probably null
Transcript: ENSMUST00000045919
SMART Domains Protein: ENSMUSP00000045240
Gene: ENSMUSG00000042333

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 null
Transcript: ENSMUST00000123514
SMART Domains Protein: ENSMUSP00000116757
Gene: ENSMUSG00000042333

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 null
Transcript: ENSMUST00000137803
Predicted Effect probably benign
Transcript: ENSMUST00000145296
Predicted Effect probably benign
Transcript: ENSMUST00000152687
SMART Domains Protein: ENSMUSP00000117890
Gene: ENSMUSG00000042333

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 probably null
Transcript: ENSMUST00000219534
Meta Mutation Damage Score 0.9487 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 93% (68/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,161,450 (GRCm39) probably benign Het
Arsk T C 13: 76,239,903 (GRCm39) E100G probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Aspscr1 T C 11: 120,579,746 (GRCm39) I31T possibly damaging Het
Asz1 T C 6: 18,074,939 (GRCm39) probably benign Het
Calm5 T A 13: 3,904,321 (GRCm39) probably benign Het
Car5a G A 8: 122,643,119 (GRCm39) T295I probably benign Het
Ccdc174 T A 6: 91,862,399 (GRCm39) probably benign Het
Celsr2 G A 3: 108,321,225 (GRCm39) A529V probably damaging Het
Cep192 A G 18: 67,948,935 (GRCm39) D252G probably benign Het
Clcnka A G 4: 141,122,276 (GRCm39) F217L probably benign Het
Cnot3 A T 7: 3,647,929 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,907 (GRCm39) probably benign Het
Cstf3 A G 2: 104,489,585 (GRCm39) probably null Het
Dcdc2a C T 13: 25,291,713 (GRCm39) P233S probably benign Het
Ddx55 A G 5: 124,706,745 (GRCm39) T581A probably benign Het
Exo1 T C 1: 175,728,849 (GRCm39) S638P possibly damaging Het
Fam135a T C 1: 24,068,511 (GRCm39) E616G possibly damaging Het
Fignl2 T C 15: 100,951,161 (GRCm39) S374G unknown Het
Gm4799 A T 10: 82,790,283 (GRCm39) noncoding transcript Het
Hectd4 T C 5: 121,481,288 (GRCm39) probably null Het
Ighv1-76 T C 12: 115,811,658 (GRCm39) E65G probably damaging Het
Igsf9b C A 9: 27,234,531 (GRCm39) H465Q probably benign Het
Itga9 A G 9: 118,492,957 (GRCm39) D284G probably damaging Het
Itpr1 T C 6: 108,450,490 (GRCm39) S1940P probably benign Het
Kcnb1 A G 2: 167,029,991 (GRCm39) S185P probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Krt1 A T 15: 101,758,566 (GRCm39) F199L probably damaging Het
Lpin2 A G 17: 71,539,271 (GRCm39) probably benign Het
Lrp1b A C 2: 40,894,615 (GRCm39) D2204E probably damaging Het
Mier3 T A 13: 111,851,384 (GRCm39) N427K probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 (GRCm39) probably benign Het
Mroh3 T A 1: 136,113,861 (GRCm39) M643L probably benign Het
Myh11 A G 16: 14,048,664 (GRCm39) S548P probably damaging Het
Nat8f6 A C 6: 85,785,505 (GRCm39) L215V possibly damaging Het
Nlrp3 G A 11: 59,438,960 (GRCm39) R179Q probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Pias1 A T 9: 62,820,048 (GRCm39) D306E probably benign Het
Pick1 A G 15: 79,133,095 (GRCm39) D385G probably benign Het
Pitx3 A T 19: 46,125,735 (GRCm39) probably benign Het
Plpp3 T A 4: 105,052,159 (GRCm39) probably null Het
Prlhr C A 19: 60,456,059 (GRCm39) R169L probably damaging Het
Ptprf A C 4: 118,067,579 (GRCm39) M1872R probably damaging Het
Ptprh T C 7: 4,604,939 (GRCm39) D35G probably benign Het
Rnf130 A G 11: 49,976,642 (GRCm39) probably null Het
Rnf17 A C 14: 56,743,445 (GRCm39) E1337A possibly damaging Het
Sdk2 A G 11: 113,742,708 (GRCm39) Y734H probably damaging Het
Slc25a10 C T 11: 120,388,943 (GRCm39) T269I probably damaging Het
Slc4a11 A C 2: 130,526,379 (GRCm39) V855G probably benign Het
Slc5a5 C A 8: 71,344,974 (GRCm39) R111L probably damaging Het
Spart A T 3: 55,042,931 (GRCm39) M616L probably benign Het
Tmem229a T C 6: 24,954,686 (GRCm39) D356G probably damaging Het
Tmem30c A G 16: 57,086,925 (GRCm39) S293P probably damaging Het
Tnfrsf19 C T 14: 61,208,627 (GRCm39) R298H possibly damaging Het
Ttc21a A G 9: 119,787,858 (GRCm39) K809E probably benign Het
Ttn G A 2: 76,580,553 (GRCm39) P23447S probably damaging Het
Uap1 T A 1: 169,978,707 (GRCm39) probably null Het
Wdr82 A G 9: 106,062,503 (GRCm39) Q252R probably benign Het
Zfp523 T C 17: 28,413,967 (GRCm39) I34T probably benign Het
Zfp808 T A 13: 62,319,069 (GRCm39) H99Q probably damaging 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
R1738:Tnfrsf14 UTSW 4 155,009,788 (GRCm39) missense probably damaging 1.00
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
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'- AGCAGGCAATAGAATCTCAGTG -3'
(R):5'- ACTTGCTAGACCCATGTGAGG -3'

Sequencing Primer
(F):5'- CAATAGAATCTCAGTGATGGGGATG -3'
(R):5'- GAAGGTTTCTGTGGATTAACCCCC -3'
Posted On 2017-02-10