Incidental Mutation 'R0241:Tnfrsf19'
ID 59513
Institutional Source Beutler Lab
Gene Symbol Tnfrsf19
Ensembl Gene ENSMUSG00000060548
Gene Name tumor necrosis factor receptor superfamily, member 19
Synonyms TAJ, TRADE, TAJ-ALPHA, Troy
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0241 (G1)
Quality Score 88
Status Validated
Chromosome 14
Chromosomal Location 61201324-61283939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61211041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 216 (S216P)
Ref Sequence ENSEMBL: ENSMUSP00000106867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111234] [ENSMUST00000111236] [ENSMUST00000224371] [ENSMUST00000225730]
AlphaFold Q9JLL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000111234
AA Change: S216P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106865
Gene: ENSMUSG00000060548
AA Change: S216P

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 possibly damaging
Transcript: ENSMUST00000111236
AA Change: S216P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106867
Gene: ENSMUSG00000060548
AA Change: S216P

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 benign
Transcript: ENSMUST00000224371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225501
Predicted Effect probably benign
Transcript: ENSMUST00000225730
Meta Mutation Damage Score 0.1935 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tmc8 C T 11: 117,677,207 (GRCm39) probably benign Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Tnfrsf19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Tnfrsf19 APN 14 61,261,631 (GRCm39) missense possibly damaging 0.53
IGL01564:Tnfrsf19 APN 14 61,212,058 (GRCm39) missense possibly damaging 0.85
IGL01878:Tnfrsf19 APN 14 61,234,093 (GRCm39) missense probably damaging 0.98
IGL02220:Tnfrsf19 APN 14 61,210,941 (GRCm39) unclassified probably benign
IGL02378:Tnfrsf19 APN 14 61,208,451 (GRCm39) missense probably benign 0.00
IGL02546:Tnfrsf19 APN 14 61,210,987 (GRCm39) missense possibly damaging 0.86
IGL02583:Tnfrsf19 APN 14 61,261,659 (GRCm39) missense probably damaging 0.98
IGL03037:Tnfrsf19 APN 14 61,261,721 (GRCm39) missense possibly damaging 0.83
IGL03221:Tnfrsf19 APN 14 61,262,227 (GRCm39) missense probably benign 0.06
R0373:Tnfrsf19 UTSW 14 61,209,485 (GRCm39) missense possibly damaging 0.47
R1521:Tnfrsf19 UTSW 14 61,242,555 (GRCm39) missense probably damaging 0.99
R3038:Tnfrsf19 UTSW 14 61,209,512 (GRCm39) missense probably benign
R4346:Tnfrsf19 UTSW 14 61,209,429 (GRCm39) critical splice donor site probably null
R4997:Tnfrsf19 UTSW 14 61,208,658 (GRCm39) missense probably benign
R5756:Tnfrsf19 UTSW 14 61,262,224 (GRCm39) missense probably benign
R5869:Tnfrsf19 UTSW 14 61,208,627 (GRCm39) missense possibly damaging 0.70
R6110:Tnfrsf19 UTSW 14 61,208,588 (GRCm39) missense probably benign 0.08
R7047:Tnfrsf19 UTSW 14 61,242,667 (GRCm39) nonsense probably null
R7266:Tnfrsf19 UTSW 14 61,212,147 (GRCm39) missense possibly damaging 0.91
R7491:Tnfrsf19 UTSW 14 61,242,654 (GRCm39) missense possibly damaging 0.75
R7729:Tnfrsf19 UTSW 14 61,212,183 (GRCm39) missense possibly damaging 0.70
R7936:Tnfrsf19 UTSW 14 61,208,382 (GRCm39) missense probably benign 0.22
R8358:Tnfrsf19 UTSW 14 61,208,634 (GRCm39) missense probably benign 0.25
R8535:Tnfrsf19 UTSW 14 61,208,417 (GRCm39) missense probably benign 0.25
R8693:Tnfrsf19 UTSW 14 61,208,451 (GRCm39) missense probably benign
R9028:Tnfrsf19 UTSW 14 61,242,650 (GRCm39) missense probably benign 0.26
R9468:Tnfrsf19 UTSW 14 61,261,623 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AAGAGCTGGACTCAGCAATGCC -3'
(R):5'- TTGTCGGGGAATGTAATGACACAGG -3'

Sequencing Primer
(F):5'- CAGCAATGCCTGGCTTTC -3'
(R):5'- CTCACAGAAGCACTGATGTTTGG -3'
Posted On 2013-07-11