Incidental Mutation 'IGL00898:Tnfsfm13'
ID28472
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 #IGL00898
Quality Score
Status
Chromosome11
Chromosomal Location69682577-69696098 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 69684301 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 220 (V220L)
Ref Sequence ENSEMBL: ENSMUSP00000104289 (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: V131L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018896
Gene: ENSMUSG00000089669
AA Change: V131L

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: ENSMUST00000094070
AA Change: V300L
SMART Domains Protein: ENSMUSP00000091613
Gene: ENSMUSG00000018752
AA Change: V300L

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 276 409 7.41e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108648
AA Change: V115L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104288
Gene: ENSMUSG00000089669
AA Change: V115L

DomainStartEndE-ValueType
Blast:TNF 39 87 1e-22 BLAST
TNF 97 224 6.21e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108649
AA Change: V220L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104289
Gene: ENSMUSG00000018752
AA Change: V220L

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: V299L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133951
Gene: ENSMUSG00000018752
AA Change: V299L

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: V301L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137973
Gene: ENSMUSG00000018752
AA Change: V301L

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,733,690 G956S probably damaging Het
Alpk2 G T 18: 65,350,573 D121E probably benign Het
Apc A G 18: 34,317,094 T2314A probably damaging Het
Arhgef11 T C 3: 87,729,503 L990P probably damaging Het
Ccar1 T A 10: 62,753,234 K823N unknown Het
Celsr2 C T 3: 108,413,879 R539H possibly damaging Het
Clca3b A G 3: 144,844,628 probably benign Het
Cpxcr1 T C X: 116,477,710 L106S possibly damaging Het
Edc4 T A 8: 105,881,123 L16Q probably damaging Het
Emc1 A G 4: 139,371,630 E808G probably damaging Het
Epha6 A T 16: 59,775,541 probably null Het
Epha7 G A 4: 28,938,693 R516Q probably damaging Het
Fancm T C 12: 65,106,000 S1077P probably benign Het
Gm4952 C T 19: 12,618,408 T54I probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Il1b T C 2: 129,367,333 R126G possibly damaging Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Lamb3 A T 1: 193,338,883 T923S possibly damaging Het
Lrp6 C T 6: 134,479,739 S854N probably damaging Het
Ltv1 A G 10: 13,182,287 F258L probably damaging Het
Mcm3ap T C 10: 76,470,325 S91P probably benign Het
Msra A G 14: 64,123,325 I125T probably damaging Het
Nr0b1 A T X: 86,192,471 Q224L probably benign Het
Nr2e1 T A 10: 42,568,453 D220V probably damaging Het
Nup160 C A 2: 90,693,106 H351Q probably damaging Het
Olfr1446 T A 19: 12,889,918 M220L probably benign Het
Pcdh12 C A 18: 38,281,457 V872L probably benign Het
Pcnx2 T A 8: 125,887,585 S376C probably damaging Het
Pkd2 A G 5: 104,483,135 E475G probably damaging Het
Psg22 A G 7: 18,724,467 Y322C probably damaging Het
Rgl2 T C 17: 33,933,418 I363T possibly damaging Het
Rimklb G T 6: 122,456,631 Q187K possibly damaging Het
Sectm1b A T 11: 121,056,249 W17R probably damaging Het
Snu13 C A 15: 82,042,315 A60S probably benign Het
Sox30 T A 11: 45,991,900 F586I possibly damaging Het
Ttn A T 2: 76,762,773 V20711E probably damaging Het
Vmn2r116 A G 17: 23,385,995 N94S possibly damaging Het
Yipf2 T C 9: 21,592,524 probably null Het
Zzef1 T C 11: 72,875,173 S1509P probably benign Het
Other mutations in Tnfsfm13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Tnfsfm13 APN 11 69684710 missense probably benign 0.16
Posted On2013-04-17