Incidental Mutation 'IGL02583:Tnfrsf19'
ID299423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf19
Ensembl Gene ENSMUSG00000060548
Gene Nametumor necrosis factor receptor superfamily, member 19
SynonymsTRADE, Troy, TAJ-ALPHA, TAJ
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02583
Quality Score
Status
Chromosome14
Chromosomal Location60963875-61046490 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 61024210 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 47 (V47F)
Ref Sequence ENSEMBL: ENSMUSP00000152920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111234] [ENSMUST00000111236] [ENSMUST00000224371] [ENSMUST00000225730]
Predicted Effect probably damaging
Transcript: ENSMUST00000111234
AA Change: V47F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106865
Gene: ENSMUSG00000060548
AA Change: V47F

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TNFR 34 72 1.75e0 SMART
TNFR 75 114 3.32e-1 SMART
transmembrane domain 169 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111236
AA Change: V47F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106867
Gene: ENSMUSG00000060548
AA Change: V47F

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TNFR 34 72 1.75e0 SMART
TNFR 75 114 3.32e-1 SMART
transmembrane domain 169 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224371
AA Change: V47F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000225730
AA Change: V47F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit no obvious physical abnormalities or alterations in behavior, locomotion, or fecundity, however neurons are more resistant to the suppressive action of myelin inhibitors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik C T 5: 26,479,719 noncoding transcript Het
A430005L14Rik T A 4: 153,960,935 D140E possibly damaging Het
Bod1l C T 5: 41,816,207 probably null Het
Brms1 T A 19: 5,046,178 V61D probably damaging Het
Card11 A T 5: 140,878,126 N952K probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col15a1 T C 4: 47,279,866 V697A probably benign Het
Col7a1 A T 9: 108,962,229 I1118F unknown Het
Cyfip2 T C 11: 46,249,758 E746G possibly damaging Het
Dach1 A G 14: 97,828,394 probably benign Het
Dock11 G T X: 36,006,717 G1023W possibly damaging Het
Fbxo10 T C 4: 45,044,754 D453G probably damaging Het
Fhad1 T C 4: 142,011,644 probably benign Het
Gm17415 A G 1: 93,422,079 probably benign Het
Gm4781 A T 10: 100,396,645 noncoding transcript Het
Gpatch2 A C 1: 187,233,317 probably null Het
Gpatch2 G T 1: 187,233,318 probably null Het
Greb1 A G 12: 16,706,295 probably benign Het
Greb1l A G 18: 10,542,362 Y1319C probably damaging Het
Ice1 C T 13: 70,605,735 R744H possibly damaging Het
Kcnq2 T A 2: 181,081,502 S694C probably benign Het
Krt35 C A 11: 100,092,534 V448L possibly damaging Het
Lexm A T 4: 106,611,405 probably benign Het
Lmo7 A G 14: 101,933,924 probably benign Het
Megf8 T C 7: 25,355,793 S1984P probably benign Het
Nlrp1a T C 11: 71,123,401 Q341R probably benign Het
Olfr575 T C 7: 102,954,711 T297A possibly damaging Het
Olfr59 T A 11: 74,289,504 L286Q probably damaging Het
Osr1 C T 12: 9,579,675 H183Y probably damaging Het
Paf1 T C 7: 28,396,171 V202A probably damaging Het
Pde10a A G 17: 8,981,630 K1071E probably benign Het
Pwp2 T C 10: 78,181,083 R268G probably benign Het
Rwdd1 T A 10: 34,001,673 K178* probably null Het
Scn10a A T 9: 119,691,440 probably benign Het
Sema3g A G 14: 31,221,519 probably null Het
Slc22a6 C A 19: 8,623,616 A391E possibly damaging Het
Slc41a3 G A 6: 90,644,171 G372S probably damaging Het
Sqor G T 2: 122,799,770 K3N probably damaging Het
Srl T C 16: 4,492,380 Q495R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stxbp3 G T 3: 108,800,871 D371E probably damaging Het
Usp11 A T X: 20,718,045 E622V probably benign Het
Vmn1r52 T A 6: 90,179,144 Y143* probably null Het
Zfp280d A G 9: 72,322,445 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zmat1 T C X: 134,973,272 T457A probably damaging Het
Other mutations in Tnfrsf19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Tnfrsf19 APN 14 61024182 missense possibly damaging 0.53
IGL01564:Tnfrsf19 APN 14 60974609 missense possibly damaging 0.85
IGL01878:Tnfrsf19 APN 14 60996644 missense probably damaging 0.98
IGL02220:Tnfrsf19 APN 14 60973492 unclassified probably benign
IGL02378:Tnfrsf19 APN 14 60971002 missense probably benign 0.00
IGL02546:Tnfrsf19 APN 14 60973538 missense possibly damaging 0.86
IGL03037:Tnfrsf19 APN 14 61024272 missense possibly damaging 0.83
IGL03221:Tnfrsf19 APN 14 61024778 missense probably benign 0.06
R0241:Tnfrsf19 UTSW 14 60973592 missense possibly damaging 0.93
R0373:Tnfrsf19 UTSW 14 60972036 missense possibly damaging 0.47
R1521:Tnfrsf19 UTSW 14 61005106 missense probably damaging 0.99
R3038:Tnfrsf19 UTSW 14 60972063 missense probably benign
R4346:Tnfrsf19 UTSW 14 60971980 critical splice donor site probably null
R4997:Tnfrsf19 UTSW 14 60971209 missense probably benign
R5756:Tnfrsf19 UTSW 14 61024775 missense probably benign
R5869:Tnfrsf19 UTSW 14 60971178 missense possibly damaging 0.70
R6110:Tnfrsf19 UTSW 14 60971139 missense probably benign 0.08
R7047:Tnfrsf19 UTSW 14 61005218 nonsense probably null
R7266:Tnfrsf19 UTSW 14 60974698 missense possibly damaging 0.91
R7491:Tnfrsf19 UTSW 14 61005205 missense possibly damaging 0.75
R7729:Tnfrsf19 UTSW 14 60974734 missense possibly damaging 0.70
Posted On2015-04-16