Incidental Mutation 'IGL03308:Tapbpl'
ID416470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tapbpl
Ensembl Gene ENSMUSG00000038213
Gene NameTAP binding protein-like
SynonymsTAPBPL-R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL03308
Quality Score
Status
Chromosome6
Chromosomal Location125223933-125231860 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 125228179 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 268 (A268V)
Ref Sequence ENSEMBL: ENSMUSP00000047105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032486] [ENSMUST00000043422] [ENSMUST00000063588] [ENSMUST00000112281]
Predicted Effect probably benign
Transcript: ENSMUST00000032486
SMART Domains Protein: ENSMUSP00000032486
Gene: ENSMUSG00000030336

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 27 62 1.11e-2 SMART
TNFR 65 104 1.23e-4 SMART
low complexity region 131 147 N/A INTRINSIC
transmembrane domain 183 202 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000043422
AA Change: A268V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047105
Gene: ENSMUSG00000038213
AA Change: A268V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 202 306 1.11e-5 SMART
IGc1 321 397 3.97e-7 SMART
transmembrane domain 412 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063588
SMART Domains Protein: ENSMUSP00000063466
Gene: ENSMUSG00000030337

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Pfam:Synaptobrevin 30 118 5.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112281
SMART Domains Protein: ENSMUSP00000107900
Gene: ENSMUSG00000030336

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 27 62 1.11e-2 SMART
Blast:TNFR 65 100 4e-10 BLAST
transmembrane domain 120 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160523
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,456,251 I216V probably damaging Het
Abcc1 A G 16: 14,470,611 I1367V possibly damaging Het
Ap1g2 T A 14: 55,104,876 I175F probably benign Het
Atad2 A G 15: 58,102,523 V671A probably benign Het
Ccdc134 A G 15: 82,131,520 D67G probably damaging Het
Cdk17 G A 10: 93,221,644 probably null Het
Col3a1 A G 1: 45,330,617 probably benign Het
Col5a3 A G 9: 20,808,379 L228P unknown Het
Eef1a2 A G 2: 181,148,836 probably benign Het
Fars2 T G 13: 36,204,687 I53R possibly damaging Het
Frmd4a G T 2: 4,498,026 A98S possibly damaging Het
Gprin1 T A 13: 54,740,144 M106L probably benign Het
Hspb8 T C 5: 116,409,342 T194A possibly damaging Het
Ift27 A G 15: 78,166,015 S65P probably damaging Het
Inpp5d A C 1: 87,703,197 Y430S probably damaging Het
Kat6b T C 14: 21,624,834 S356P probably damaging Het
Limch1 C T 5: 67,002,558 T443M possibly damaging Het
Mcf2l C T 8: 13,009,512 R708C probably damaging Het
Mlf1 T C 3: 67,397,807 W214R probably damaging Het
Naga A T 15: 82,335,887 L153Q probably damaging Het
Nbas A G 12: 13,324,348 Q559R possibly damaging Het
Olfr324 T C 11: 58,597,699 F101S probably damaging Het
Olfr720 T A 14: 14,175,161 H307L probably benign Het
Prex2 A G 1: 11,185,175 D1148G possibly damaging Het
Prss23 A C 7: 89,509,730 L377R probably benign Het
Ptprc G T 1: 138,126,320 T27K possibly damaging Het
Rnf213 A G 11: 119,474,172 T4553A probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Skint3 T C 4: 112,254,067 F130L probably damaging Het
Slc8a1 A G 17: 81,442,195 probably benign Het
Stau1 T C 2: 166,950,320 N433D probably damaging Het
Tmem131l T C 3: 83,940,902 I314V probably benign Het
Tmem44 A G 16: 30,543,748 W151R probably damaging Het
Tnnc1 T C 14: 31,209,841 probably benign Het
Traf5 T G 1: 191,997,500 N530T probably damaging Het
Ttn A G 2: 76,746,563 I24662T probably damaging Het
Vmn1r49 A T 6: 90,072,359 H220Q possibly damaging Het
Vmn2r106 A T 17: 20,278,523 C375* probably null Het
Vps26b T C 9: 27,029,500 Y41C probably damaging Het
Wdr64 T C 1: 175,766,996 probably benign Het
Xylt1 C T 7: 117,637,751 Q576* probably null Het
Zfp106 T C 2: 120,524,024 D1422G probably benign Het
Other mutations in Tapbpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03083:Tapbpl APN 6 125228228 unclassified probably null
R1666:Tapbpl UTSW 6 125230201 missense probably benign 0.00
R3707:Tapbpl UTSW 6 125224695 unclassified probably null
R4521:Tapbpl UTSW 6 125228122 missense probably damaging 1.00
R4744:Tapbpl UTSW 6 125228285 missense probably damaging 1.00
R6290:Tapbpl UTSW 6 125230716 missense probably benign 0.00
R6328:Tapbpl UTSW 6 125224918 missense probably benign 0.40
R6565:Tapbpl UTSW 6 125228344 missense probably benign 0.00
R7085:Tapbpl UTSW 6 125226488 splice site probably null
R7251:Tapbpl UTSW 6 125226595 missense probably damaging 0.98
X0026:Tapbpl UTSW 6 125230570 missense probably damaging 0.96
Posted On2016-08-02