Incidental Mutation 'IGL02546:Tnfrsf19'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf19
Ensembl Gene ENSMUSG00000060548
Gene Nametumor necrosis factor receptor superfamily, member 19
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02546
Quality Score
Chromosomal Location60963875-61046490 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60973538 bp
Amino Acid Change Cysteine to Serine at position 234 (C234S)
Ref Sequence ENSEMBL: ENSMUSP00000106867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111234] [ENSMUST00000111236] [ENSMUST00000224371] [ENSMUST00000225730]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111234
AA Change: C234S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106865
Gene: ENSMUSG00000060548
AA Change: C234S

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 possibly damaging
Transcript: ENSMUST00000111236
AA Change: C234S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106867
Gene: ENSMUSG00000060548
AA Change: C234S

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 benign
Transcript: ENSMUST00000224371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225501
Predicted Effect probably benign
Transcript: ENSMUST00000225730
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,066,927 W385R probably damaging Het
A730017C20Rik T A 18: 59,072,275 M45K probably damaging Het
Akap6 G T 12: 52,880,738 V144L probably damaging Het
Carmil1 A T 13: 24,115,499 N347K probably damaging Het
Cyp4a32 A G 4: 115,611,323 Y334C probably damaging Het
Dmxl2 C A 9: 54,366,414 probably benign Het
Eps8 C T 6: 137,479,066 A806T probably benign Het
Evl A G 12: 108,648,419 N24S possibly damaging Het
Fbxo15 T C 18: 84,962,722 probably null Het
Gm14179 A T 11: 99,743,193 Het
Hepacam2 A G 6: 3,483,568 V147A possibly damaging Het
Jmjd1c C A 10: 67,225,336 P1156Q possibly damaging Het
Mab21l3 A T 3: 101,823,308 V205E probably damaging Het
Mad2l1 T C 6: 66,535,967 I28T probably damaging Het
Mroh9 T A 1: 163,080,576 I2F probably benign Het
Msr1 A T 8: 39,615,747 I302K probably benign Het
Msrb3 C T 10: 120,850,001 V80I possibly damaging Het
Ncf4 A G 15: 78,261,019 D269G probably damaging Het
Nsl1 T A 1: 191,071,201 H156Q probably benign Het
Nutm1 T C 2: 112,248,324 D1082G probably benign Het
Olfr812 T A 10: 129,842,547 D165V probably damaging Het
Olfr835 T A 9: 19,035,354 V77D possibly damaging Het
Orc4 T C 2: 48,917,284 I212V probably null Het
Pde6c A G 19: 38,140,040 I184V probably benign Het
Pfkfb3 A T 2: 11,488,778 F129Y probably damaging Het
Ppp3cb T C 14: 20,501,554 D493G probably benign Het
Psg29 A G 7: 17,208,782 Y236C probably damaging Het
Pzp C T 6: 128,494,699 probably benign Het
Sgf29 T A 7: 126,671,853 V180E probably damaging Het
Sh3bp4 A G 1: 89,143,544 probably benign Het
Slc39a2 A T 14: 51,895,163 T188S probably benign Het
Slc6a13 G T 6: 121,333,364 M327I probably benign Het
Slitrk6 T A 14: 110,749,794 H827L probably benign Het
Thumpd2 T G 17: 81,054,455 K114T probably benign Het
Tns2 A G 15: 102,110,940 D446G probably damaging Het
Tpm4 A G 8: 72,144,703 E137G probably damaging Het
Ttn G A 2: 76,795,557 R13307C probably damaging Het
Ubqln3 A G 7: 104,142,518 S122P probably benign Het
Ubr5 T C 15: 38,008,747 D1080G probably benign Het
Ulk4 A T 9: 121,152,307 L886* probably null Het
Unc80 T C 1: 66,554,953 S1164P possibly damaging Het
Uspl1 T C 5: 149,204,304 V371A possibly damaging Het
Virma T C 4: 11,494,804 V35A probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp787 A T 7: 6,132,298 I318N 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
IGL02583:Tnfrsf19 APN 14 61024210 missense probably damaging 0.98
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