Incidental Mutation 'R0311:Tnfrsf18'
ID25183
Institutional Source Beutler Lab
Gene Symbol Tnfrsf18
Ensembl Gene ENSMUSG00000041954
Gene Nametumor necrosis factor receptor superfamily, member 18
SynonymsGitr
MMRRC Submission 038521-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0311 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location156026164-156028895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 156026415 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 10 (V10A)
Ref Sequence ENSEMBL: ENSMUSP00000113277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040274] [ENSMUST00000103173] [ENSMUST00000122001]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040274
AA Change: V10A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040035
Gene: ENSMUSG00000041954
AA Change: V10A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:TNFR 29 62 2e-6 BLAST
EGF 76 117 2.29e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103173
AA Change: V10A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099462
Gene: ENSMUSG00000041954
AA Change: V10A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 62 100 2.92e1 SMART
EGF 76 117 2.29e1 SMART
TNFR 103 141 5.56e-3 SMART
transmembrane domain 156 178 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000122001
AA Change: V10A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113277
Gene: ENSMUSG00000041954
AA Change: V10A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 62 100 2.92e1 SMART
EGF 76 117 2.29e1 SMART
TNFR 103 141 5.56e-3 SMART
transmembrane domain 156 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195694
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.6%
  • 20x: 91.6%
Validation Efficiency 100% (43/43)
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-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted mutation display dysregulation of T-cell receptor/CD3-driven T-cell activation and programmed cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A C 7: 120,402,904 M1547L probably damaging Het
Abcb4 A G 5: 8,934,243 K658E probably benign Het
Abr A G 11: 76,509,127 S15P possibly damaging Het
Adgrb2 G C 4: 130,017,129 A1168P probably damaging Het
Adgre4 A T 17: 55,802,010 E339V probably benign Het
Asprv1 T C 6: 86,628,840 W223R probably damaging Het
Ccdc89 A G 7: 90,426,693 E37G probably damaging Het
Cd48 C A 1: 171,699,580 Y191* probably null Het
Chd4 T C 6: 125,101,665 I257T probably benign Het
Clca4b T C 3: 144,932,496 M2V probably benign Het
Dnah11 A T 12: 118,127,133 D1025E probably benign Het
Erich5 A G 15: 34,472,939 *363W probably null Het
Etl4 A G 2: 20,807,129 D1341G probably damaging Het
Fbxw11 A G 11: 32,722,083 T184A probably benign Het
Fktn A G 4: 53,744,620 Q300R probably benign Het
G3bp1 T C 11: 55,498,626 F383L probably damaging Het
Gdpd3 G A 7: 126,767,189 R66Q possibly damaging Het
Hexb A G 13: 97,183,819 probably benign Het
Kdm4b A G 17: 56,386,200 R346G probably benign Het
Mbtd1 T A 11: 93,921,357 probably null Het
Med23 T A 10: 24,897,358 C653S possibly damaging Het
Nwd2 A T 5: 63,804,998 I642L probably damaging Het
Olfr1444 A G 19: 12,861,869 I31M probably benign Het
Olfr1448 T A 19: 12,920,096 Y71F possibly damaging Het
Olfr912 T C 9: 38,539,297 V134A probably benign Het
Pbld2 T C 10: 63,054,507 probably null Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Pkd1l3 G A 8: 109,623,663 S380N probably benign Het
Plpp2 C T 10: 79,527,580 R77K probably damaging Het
Pym1 G T 10: 128,765,984 R168L possibly damaging Het
Rbm4 T C 19: 4,787,556 Y300C probably damaging Het
Rnf207 A G 4: 152,315,779 C175R probably damaging Het
Sema6a G A 18: 47,290,045 probably null Het
Speg T C 1: 75,430,937 V3196A probably damaging Het
Syne1 T A 10: 5,348,943 I1048L possibly damaging Het
Th T C 7: 142,896,041 E41G probably damaging Het
Tmx4 T A 2: 134,598,526 *336L probably null Het
Tnxb A T 17: 34,716,984 I2670F probably damaging Het
Tpx2 T C 2: 152,890,492 V562A probably damaging Het
Vmn2r73 A G 7: 85,871,789 S324P probably benign Het
Vps18 T C 2: 119,297,365 Y890H probably benign Het
Ythdc1 G A 5: 86,835,705 D670N probably damaging Het
Other mutations in Tnfrsf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Tnfrsf18 APN 4 156028036 nonsense probably null
R0100:Tnfrsf18 UTSW 4 156028366 missense probably benign 0.15
R0100:Tnfrsf18 UTSW 4 156028366 missense probably benign 0.15
R0624:Tnfrsf18 UTSW 4 156026529 missense possibly damaging 0.94
R1158:Tnfrsf18 UTSW 4 156028282 missense probably benign 0.29
R2117:Tnfrsf18 UTSW 4 156028516 missense probably damaging 0.99
R2909:Tnfrsf18 UTSW 4 156028270 missense probably damaging 1.00
R4610:Tnfrsf18 UTSW 4 156021880 unclassified probably benign
R5307:Tnfrsf18 UTSW 4 156028424 critical splice donor site probably null
R6571:Tnfrsf18 UTSW 4 156028319 nonsense probably null
R7111:Tnfrsf18 UTSW 4 156028711 missense probably damaging 0.97
R8058:Tnfrsf18 UTSW 4 156028345 missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- GCTCTGCTCTACACTTCACAGAAGG -3'
(R):5'- GCTCCCACATTCTGAGAGGAAGTTG -3'

Sequencing Primer
(F):5'- GGCCTTTACAAACACCTCAGATG -3'
(R):5'- CTGAGAGGAAGTTGTCCCTCTAC -3'
Posted On2013-04-16