Incidental Mutation 'IGL00763:Tnfsfm13'
ID45606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsfm13
Ensembl Gene ENSMUSG00000018752
Gene Nametumor necrosis factor (ligand) superfamily, membrane-bound member 13
SynonymsBC096441, Tnfsf12tnfsf13, Tnfsf12-Tnfsf13, TWE-PRIL
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00763
Quality Score
Status
Chromosome11
Chromosomal Location69682577-69696098 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69684710 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 256 (D256G)
Ref Sequence ENSEMBL: ENSMUSP00000137973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000018896] [ENSMUST00000066760] [ENSMUST00000108648] [ENSMUST00000108649] [ENSMUST00000174159] [ENSMUST00000180587] [ENSMUST00000181261] [ENSMUST00000181810]
Predicted Effect probably benign
Transcript: ENSMUST00000005336
SMART Domains Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 183 195 N/A INTRINSIC
Pfam:Peptidase_C48 394 566 4.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000018896
AA Change: D87G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018896
Gene: ENSMUSG00000089669
AA Change: D87G

DomainStartEndE-ValueType
Blast:TNF 39 87 1e-22 BLAST
low complexity region 101 106 N/A INTRINSIC
TNF 107 240 7.41e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066760
SMART Domains Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 183 195 N/A INTRINSIC
Pfam:Peptidase_C48 394 566 4.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108648
AA Change: D87G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104288
Gene: ENSMUSG00000089669
AA Change: D87G

DomainStartEndE-ValueType
Blast:TNF 39 87 1e-22 BLAST
TNF 97 224 6.21e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108649
AA Change: D176G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104289
Gene: ENSMUSG00000018752
AA Change: D176G

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
PDB:4HT1|T 110 166 1e-31 PDB
Blast:TNF 117 166 4e-27 BLAST
low complexity region 190 195 N/A INTRINSIC
TNF 196 329 7.41e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145435
Predicted Effect probably benign
Transcript: ENSMUST00000174159
AA Change: D255G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133951
Gene: ENSMUSG00000018752
AA Change: D255G

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
TNF 117 255 6.18e-10 SMART
low complexity region 269 274 N/A INTRINSIC
TNF 275 408 7.41e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180587
AA Change: D256G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137973
Gene: ENSMUSG00000018752
AA Change: D256G

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 91 110 N/A INTRINSIC
TNF 118 256 6.18e-10 SMART
low complexity region 270 275 N/A INTRINSIC
TNF 276 410 1.91e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181261
SMART Domains Protein: ENSMUSP00000137916
Gene: ENSMUSG00000097328

DomainStartEndE-ValueType
low complexity region 52 71 N/A INTRINSIC
Blast:TNF 72 98 8e-8 BLAST
PDB:4HT1|T 72 98 1e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000181810
SMART Domains Protein: ENSMUSP00000137972
Gene: ENSMUSG00000097328

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
TNF 117 248 3.67e-35 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene represents read-through transcription between neighboring genes encoding tumor necrosis factor family members. This results a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The homologous fusion protein in human is known to be membrane-anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. Alternative splicing of this mouse gene results in multiple transcript variants. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T G 11: 58,612,881 probably benign Het
Bmp3 A C 5: 98,872,379 R220S possibly damaging Het
Bms1 A G 6: 118,418,402 probably benign Het
Ccdc138 T A 10: 58,575,715 F635Y probably damaging Het
Ccdc81 T C 7: 89,869,615 probably benign Het
Cntnap5a T C 1: 116,117,677 I341T possibly damaging Het
Cog5 C T 12: 31,665,532 probably benign Het
Dcaf4 G A 12: 83,539,333 R358H probably damaging Het
Ddx10 A C 9: 53,160,026 probably benign Het
Fgf15 T A 7: 144,899,892 F201I probably damaging Het
Galp A G 7: 6,208,500 Y40C probably damaging Het
Ints6 A G 14: 62,700,865 probably benign Het
Iqcb1 A T 16: 36,856,287 probably benign Het
Kif19a G A 11: 114,767,168 V18I probably benign Het
Morc1 A C 16: 48,612,326 Q719P probably damaging Het
Pla2g4a T C 1: 149,851,325 D568G probably damaging Het
Plscr4 A G 9: 92,484,945 E204G probably null Het
Rasgrf1 A G 9: 89,971,020 T403A probably benign Het
Sec16b A G 1: 157,529,257 T12A probably benign Het
Slc12a7 A T 13: 73,794,082 N359I possibly damaging Het
Slc14a2 G T 18: 78,192,238 D241E probably damaging Het
Slc23a2 G T 2: 132,101,500 A27E probably benign Het
Slc38a8 T C 8: 119,494,219 I200M probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Tmc6 A G 11: 117,779,046 L20P probably damaging Het
Tonsl C T 15: 76,633,868 A605T probably damaging Het
Usp28 A G 9: 49,028,163 T240A probably benign Het
Zap70 A T 1: 36,779,252 D340V possibly damaging Het
Zfp512b A T 2: 181,590,151 F100I probably damaging Het
Other mutations in Tnfsfm13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Tnfsfm13 APN 11 69684301 missense probably benign 0.04
Posted On2013-06-11