Incidental Mutation 'R8920:Tapbpl'
ID 679190
Institutional Source Beutler Lab
Gene Symbol Tapbpl
Ensembl Gene ENSMUSG00000038213
Gene Name TAP binding protein-like
Synonyms TAPBPL-R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8920 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 125200896-125208823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125205214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 244 (Y244C)
Ref Sequence ENSEMBL: ENSMUSP00000047105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032486] [ENSMUST00000043422] [ENSMUST00000063588] [ENSMUST00000112281] [ENSMUST00000112282]
AlphaFold Q8VD31
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 probably damaging
Transcript: ENSMUST00000043422
AA Change: Y244C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047105
Gene: ENSMUSG00000038213
AA Change: Y244C

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 probably benign
Transcript: ENSMUST00000112282
SMART Domains Protein: ENSMUSP00000107901
Gene: ENSMUSG00000030336

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:TNFR 27 45 1e-6 BLAST
transmembrane domain 76 98 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa10 T A 8: 62,527,580 (GRCm39) Q160L probably benign Het
Apc2 A T 10: 80,149,934 (GRCm39) I1663L probably benign Het
Bahcc1 C G 11: 120,175,331 (GRCm39) R1802G probably damaging Het
C1qtnf1 T C 11: 118,339,068 (GRCm39) V246A possibly damaging Het
Cbl A G 9: 44,078,570 (GRCm39) M267T probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfap46 G T 7: 139,232,442 (GRCm39) N840K Het
Cfap54 T A 10: 92,776,199 (GRCm39) probably null Het
Cnrip1 A C 11: 17,005,003 (GRCm39) K184N unknown Het
Dnah11 A T 12: 118,077,674 (GRCm39) L1273Q probably damaging Het
Dyrk1a T G 16: 94,460,488 (GRCm39) I48R probably benign Het
Exoc7 T C 11: 116,180,055 (GRCm39) E683G probably benign Het
Hdac1-ps A G 17: 78,799,171 (GRCm39) Y54C probably benign Het
Igtp A T 11: 58,096,999 (GRCm39) I57F probably damaging Het
Inhbb T C 1: 119,345,107 (GRCm39) N394S probably damaging Het
Jag1 T C 2: 136,931,143 (GRCm39) H663R probably benign Het
Kcna6 A G 6: 126,716,610 (GRCm39) F93S probably damaging Het
L1td1 C A 4: 98,624,864 (GRCm39) S353* probably null Het
Lgals12 T C 19: 7,576,166 (GRCm39) I253V possibly damaging Het
Lgals4 C T 7: 28,540,289 (GRCm39) R195C probably benign Het
Lrp1b A T 2: 42,213,610 (GRCm39) D67E Het
Lrrc43 T C 5: 123,639,194 (GRCm39) S408P probably benign Het
Madd T C 2: 91,007,168 (GRCm39) I315V probably benign Het
Mdn1 T C 4: 32,719,280 (GRCm39) F2281S probably damaging Het
Med13l A T 5: 118,885,543 (GRCm39) K1499* probably null Het
Myoc A G 1: 162,475,127 (GRCm39) E226G probably benign Het
Nmur1 T C 1: 86,315,577 (GRCm39) Y96C probably damaging Het
Nwd2 A T 5: 63,948,863 (GRCm39) D145V probably damaging Het
Or7g18 C A 9: 18,787,394 (GRCm39) T254K probably damaging Het
Paqr8 A T 1: 21,005,245 (GRCm39) Q133L probably damaging Het
Plbd2 T C 5: 120,630,915 (GRCm39) D230G probably damaging Het
Plekha7 A G 7: 115,744,218 (GRCm39) I694T probably benign Het
Rnf139 C T 15: 58,771,529 (GRCm39) T518I possibly damaging Het
Ryr1 G T 7: 28,789,640 (GRCm39) S1498R possibly damaging Het
Senp6 T A 9: 79,999,561 (GRCm39) S72T probably benign Het
Slc12a7 C T 13: 73,946,568 (GRCm39) P554S probably damaging Het
Slc6a2 C A 8: 93,687,990 (GRCm39) R39S probably benign Het
Snrpe T G 1: 133,534,199 (GRCm39) H88P probably benign Het
Stard9 T A 2: 120,533,088 (GRCm39) V3115E probably damaging Het
Stk39 C T 2: 68,302,191 (GRCm39) V11I unknown Het
Tpx2 A G 2: 152,726,214 (GRCm39) E393G probably damaging Het
Vmn2r100 A T 17: 19,741,620 (GRCm39) N111Y probably damaging Het
Vstm4 C T 14: 32,585,615 (GRCm39) R61C probably damaging Het
Washc2 T A 6: 116,221,615 (GRCm39) F698I possibly damaging Het
Zfp467 G A 6: 48,415,414 (GRCm39) P413S probably benign Het
Zfp532 G T 18: 65,820,390 (GRCm39) A992S probably benign Het
Zfp622 G A 15: 25,996,321 (GRCm39) W430* probably null Het
Other mutations in Tapbpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03083:Tapbpl APN 6 125,205,191 (GRCm39) splice site probably null
IGL03308:Tapbpl APN 6 125,205,142 (GRCm39) missense possibly damaging 0.93
BB010:Tapbpl UTSW 6 125,207,233 (GRCm39) missense probably damaging 1.00
BB020:Tapbpl UTSW 6 125,207,233 (GRCm39) missense probably damaging 1.00
R1666:Tapbpl UTSW 6 125,207,164 (GRCm39) missense probably benign 0.00
R3707:Tapbpl UTSW 6 125,201,658 (GRCm39) splice site probably null
R4521:Tapbpl UTSW 6 125,205,085 (GRCm39) missense probably damaging 1.00
R4744:Tapbpl UTSW 6 125,205,248 (GRCm39) missense probably damaging 1.00
R6290:Tapbpl UTSW 6 125,207,679 (GRCm39) missense probably benign 0.00
R6328:Tapbpl UTSW 6 125,201,881 (GRCm39) missense probably benign 0.40
R6565:Tapbpl UTSW 6 125,205,307 (GRCm39) missense probably benign 0.00
R7085:Tapbpl UTSW 6 125,203,451 (GRCm39) splice site probably null
R7251:Tapbpl UTSW 6 125,203,558 (GRCm39) missense probably damaging 0.98
R7933:Tapbpl UTSW 6 125,207,233 (GRCm39) missense probably damaging 1.00
R8230:Tapbpl UTSW 6 125,203,684 (GRCm39) missense probably damaging 1.00
R9372:Tapbpl UTSW 6 125,203,672 (GRCm39) missense probably benign 0.28
R9406:Tapbpl UTSW 6 125,205,319 (GRCm39) missense probably damaging 1.00
X0026:Tapbpl UTSW 6 125,207,533 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CATGATCTGTTGAGCTTGATACAG -3'
(R):5'- TGTCTGTCCATGGCTCAGAG -3'

Sequencing Primer
(F):5'- ATCTGTTGAGCTTGATACAGAGAGG -3'
(R):5'- GAAACAGTCTGTAAGTCACCCTTTC -3'
Posted On 2021-08-02