Incidental Mutation 'R6248:Tap1'
ID 505644
Institutional Source Beutler Lab
Gene Symbol Tap1
Ensembl Gene ENSMUSG00000037321
Gene Name transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
Synonyms TAP, Ham1, RING4, MTP1, Tap-1, Ham-1, Abcb2, PSF-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6248 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34406530-34416199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34412151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 452 (E452V)
Ref Sequence ENSEMBL: ENSMUSP00000128401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025196] [ENSMUST00000041633] [ENSMUST00000170086] [ENSMUST00000173441]
AlphaFold P21958
Predicted Effect probably benign
Transcript: ENSMUST00000025196
SMART Domains Protein: ENSMUSP00000025196
Gene: ENSMUSG00000024338

DomainStartEndE-ValueType
Pfam:Proteasome 69 251 1.9e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041633
AA Change: E424V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: E424V

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
Pfam:ABC_membrane 163 420 9.1e-55 PFAM
AAA 478 666 2.21e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168351
Predicted Effect probably damaging
Transcript: ENSMUST00000170086
AA Change: E452V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: E452V

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
Pfam:ABC_membrane 163 434 5.8e-70 PFAM
AAA 506 694 2.21e-18 SMART
Predicted Effect unknown
Transcript: ENSMUST00000171148
AA Change: E121V
SMART Domains Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
AA Change: E121V

DomainStartEndE-ValueType
Pfam:ABC_membrane 1 114 1.5e-24 PFAM
Pfam:ABC_tran 167 196 1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173441
SMART Domains Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338

DomainStartEndE-ValueType
Pfam:Proteasome 69 248 6.3e-53 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (92/92)
MGI Phenotype FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This protein forms a heterodimer with Tap2 that transports short peptides from the cytosol into the endoplasmic reticulum lumen. Mutations in the human gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are deficient in antigen presentation, surface class I antigens, and CD4-8+ T cells. [provided by MGI curators]
Allele List at MGI
All alleles(2) : Targeted, knock-out(2)
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,978 (GRCm39) S83P possibly damaging Het
Actr10 A T 12: 70,999,733 (GRCm39) E176D probably benign Het
Adcy3 G A 12: 4,258,662 (GRCm39) probably null Het
AI429214 T A 8: 37,461,278 (GRCm39) I142N probably damaging Het
Alox12 A G 11: 70,143,936 (GRCm39) L148S probably damaging Het
Ank3 A G 10: 69,809,680 (GRCm39) I1147V probably benign Het
Apoc2 C T 7: 19,407,493 (GRCm39) V12I probably benign Het
Arap3 T C 18: 38,124,407 (GRCm39) S311G probably benign Het
Arih2 G T 9: 108,488,841 (GRCm39) H292Q probably damaging Het
Cdc14a A T 3: 116,101,843 (GRCm39) D312E probably benign Het
Cdh12 T G 15: 21,237,800 (GRCm39) W12G possibly damaging Het
Cisd2 A T 3: 135,114,616 (GRCm39) N118K probably damaging Het
Cntnap5b A G 1: 99,999,827 (GRCm39) Q195R probably benign Het
Cyp2r1 A G 7: 114,161,966 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 T A 2: 180,302,048 (GRCm39) H1952L probably damaging Het
Dnah10 T A 5: 124,871,283 (GRCm39) probably null Het
Dnal4 T A 15: 79,646,714 (GRCm39) M56L probably damaging Het
Emilin2 A G 17: 71,581,112 (GRCm39) V538A probably benign Het
Eps8l2 A G 7: 140,922,015 (GRCm39) D31G probably damaging Het
Erp44 A T 4: 48,219,479 (GRCm39) L112* probably null Het
Etl4 C T 2: 20,813,900 (GRCm39) T1907I possibly damaging Het
Exoc3 A G 13: 74,330,400 (GRCm39) F510L probably benign Het
Fam114a2 G T 11: 57,383,942 (GRCm39) T324K possibly damaging Het
Fer1l4 G A 2: 155,888,091 (GRCm39) R465C probably damaging Het
Frmd4b A C 6: 97,436,173 (GRCm39) S2R probably benign Het
Fscn1 A T 5: 142,946,778 (GRCm39) D192V possibly damaging Het
Gm3486 T A 14: 41,206,472 (GRCm39) *200C probably null Het
Gusb A T 5: 130,029,366 (GRCm39) H138Q probably benign Het
Hdac9 A T 12: 34,578,293 (GRCm39) M4K possibly damaging Het
Hhipl1 G T 12: 108,284,964 (GRCm39) R439L probably benign Het
Hoxd9 A G 2: 74,528,980 (GRCm39) E194G probably benign Het
Itgb1 A G 8: 129,448,902 (GRCm39) S503G possibly damaging Het
Kcnt2 T A 1: 140,437,216 (GRCm39) C500S probably damaging Het
Kdm7a G A 6: 39,123,983 (GRCm39) S727L possibly damaging Het
Klhdc4 A G 8: 122,540,507 (GRCm39) F92L probably damaging Het
Klrb1a A G 6: 128,596,137 (GRCm39) V62A probably damaging Het
Krit1 A G 5: 3,863,032 (GRCm39) probably null Het
Krt40 A G 11: 99,432,566 (GRCm39) I150T possibly damaging Het
Larp4b A G 13: 9,208,738 (GRCm39) T464A probably benign Het
Lrrc52 T G 1: 167,293,964 (GRCm39) D107A probably damaging Het
Mapkap1 G T 2: 34,408,692 (GRCm39) V35F probably damaging Het
Mccc1 A G 3: 36,044,313 (GRCm39) V171A probably damaging Het
Metap1d A T 2: 71,346,104 (GRCm39) R222* probably null Het
Mrgpre G A 7: 143,334,603 (GRCm39) A300V probably benign Het
Mterf1b C A 5: 4,246,606 (GRCm39) N82K probably benign Het
Myh9 C T 15: 77,669,422 (GRCm39) W533* probably null Het
Myom2 A G 8: 15,148,472 (GRCm39) probably null Het
Ncor1 G A 11: 62,257,808 (GRCm39) P329S probably damaging Het
Nr2f1 T C 13: 78,344,611 (GRCm39) probably benign Het
Or10x1 T G 1: 174,197,236 (GRCm39) V251G probably benign Het
Or11a4 T A 17: 37,536,451 (GRCm39) L145* probably null Het
Or2a57 C T 6: 43,212,838 (GRCm39) Q99* probably null Het
Or2w6 A T 13: 21,843,244 (GRCm39) I83N possibly damaging Het
Or52p2 T C 7: 102,237,237 (GRCm39) T238A probably benign Het
Or6c210 A G 10: 129,496,532 (GRCm39) I286V probably benign Het
Or6z1 A T 7: 6,504,675 (GRCm39) C183* probably null Het
Pcdha11 T C 18: 37,138,950 (GRCm39) L193P probably benign Het
Pcdhb20 T A 18: 37,639,285 (GRCm39) F604I probably damaging Het
Pde1a T C 2: 79,708,545 (GRCm39) H291R probably damaging Het
Pfkm G A 15: 98,024,260 (GRCm39) V423M probably damaging Het
Pira1 C A 7: 3,739,337 (GRCm39) E510D probably benign Het
Pkd2l1 G T 19: 44,146,108 (GRCm39) Q149K probably benign Het
Pkhd1l1 T A 15: 44,392,955 (GRCm39) N1763K probably benign Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Prpf39 A C 12: 65,089,528 (GRCm39) N89H probably damaging Het
Rad54l2 A G 9: 106,587,537 (GRCm39) F743L probably damaging Het
Raver2 A G 4: 100,991,320 (GRCm39) probably null Het
Ric8b T C 10: 84,783,709 (GRCm39) L189P probably damaging Het
Sccpdh T C 1: 179,495,957 (GRCm39) F13L probably benign Het
Scd2 T C 19: 44,291,448 (GRCm39) F296L probably damaging Het
Scg2 G T 1: 79,414,023 (GRCm39) D233E probably benign Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Skint5 A T 4: 113,636,286 (GRCm39) V644E unknown Het
Slc44a5 G T 3: 153,969,678 (GRCm39) V612F possibly damaging Het
Snd1 C T 6: 28,520,234 (GRCm39) R107* probably null Het
Sun5 G T 2: 153,702,589 (GRCm39) T189K probably damaging Het
Tcam1 A G 11: 106,173,652 (GRCm39) N32S probably benign Het
Tep1 T C 14: 51,067,715 (GRCm39) E2167G probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmem175 T C 5: 108,793,821 (GRCm39) V317A probably damaging Het
Tsga13 A G 6: 30,874,139 (GRCm39) V231A probably benign Het
Tspan12 A G 6: 21,799,970 (GRCm39) S126P probably damaging Het
Uvrag G T 7: 98,637,398 (GRCm39) D143E probably damaging Het
Vmn1r230 T A 17: 21,067,036 (GRCm39) M75K possibly damaging Het
Vmn2r120 A T 17: 57,852,287 (GRCm39) F10I probably benign Het
Vmn2r57 T C 7: 41,049,284 (GRCm39) T822A probably benign Het
Vmn2r67 T C 7: 84,799,768 (GRCm39) Y490C probably damaging Het
Zc3h7b T A 15: 81,667,386 (GRCm39) W644R probably damaging Het
Zeb1 A G 18: 5,766,962 (GRCm39) D491G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp831 A T 2: 174,486,308 (GRCm39) T328S possibly damaging Het
Other mutations in Tap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
rose APN 17 34,413,914 (GRCm39) missense probably damaging 1.00
IGL01294:Tap1 APN 17 34,413,019 (GRCm39) critical splice donor site probably null
IGL01776:Tap1 APN 17 34,412,102 (GRCm39) missense possibly damaging 0.82
IGL01787:Tap1 APN 17 34,415,578 (GRCm39) missense probably benign 0.21
IGL02246:Tap1 APN 17 34,412,963 (GRCm39) missense probably benign 0.01
IGL02996:Tap1 APN 17 34,410,370 (GRCm39) missense probably damaging 1.00
IGL03278:Tap1 APN 17 34,410,457 (GRCm39) missense probably damaging 1.00
bullus UTSW 17 34,408,536 (GRCm39) critical splice donor site probably null
entertainer UTSW 17 34,412,293 (GRCm39) splice site probably null
joplin UTSW 17 34,412,232 (GRCm39) missense probably damaging 1.00
ragtime UTSW 17 34,409,616 (GRCm39) nonsense probably null
rose2 UTSW 17 34,413,915 (GRCm39) missense probably damaging 1.00
Tapestry UTSW 17 34,412,163 (GRCm39) missense probably damaging 1.00
PIT4802001:Tap1 UTSW 17 34,412,165 (GRCm39) missense probably damaging 1.00
R1566:Tap1 UTSW 17 34,408,520 (GRCm39) missense probably benign 0.00
R1795:Tap1 UTSW 17 34,413,899 (GRCm39) missense probably benign 0.21
R1837:Tap1 UTSW 17 34,407,083 (GRCm39) missense possibly damaging 0.50
R1839:Tap1 UTSW 17 34,407,083 (GRCm39) missense possibly damaging 0.50
R1892:Tap1 UTSW 17 34,413,915 (GRCm39) missense probably damaging 1.00
R1893:Tap1 UTSW 17 34,413,915 (GRCm39) missense probably damaging 1.00
R1952:Tap1 UTSW 17 34,412,481 (GRCm39) missense probably damaging 1.00
R2163:Tap1 UTSW 17 34,408,447 (GRCm39) splice site probably null
R3744:Tap1 UTSW 17 34,412,586 (GRCm39) missense probably damaging 1.00
R3883:Tap1 UTSW 17 34,412,232 (GRCm39) missense probably damaging 1.00
R3975:Tap1 UTSW 17 34,408,541 (GRCm39) unclassified probably benign
R4418:Tap1 UTSW 17 34,407,353 (GRCm39) splice site probably null
R4779:Tap1 UTSW 17 34,412,865 (GRCm39) missense probably damaging 1.00
R4913:Tap1 UTSW 17 34,412,468 (GRCm39) missense possibly damaging 0.94
R5715:Tap1 UTSW 17 34,411,868 (GRCm39) nonsense probably null
R5838:Tap1 UTSW 17 34,412,279 (GRCm39) nonsense probably null
R6710:Tap1 UTSW 17 34,407,083 (GRCm39) missense possibly damaging 0.50
R6881:Tap1 UTSW 17 34,407,008 (GRCm39) missense probably damaging 0.99
R7437:Tap1 UTSW 17 34,409,616 (GRCm39) nonsense probably null
R7514:Tap1 UTSW 17 34,415,639 (GRCm39) missense probably damaging 1.00
R7618:Tap1 UTSW 17 34,407,212 (GRCm39) missense possibly damaging 0.94
R7968:Tap1 UTSW 17 34,413,886 (GRCm39) missense probably damaging 0.99
R8115:Tap1 UTSW 17 34,412,293 (GRCm39) splice site probably null
R8146:Tap1 UTSW 17 34,408,206 (GRCm39) missense probably damaging 0.98
R8322:Tap1 UTSW 17 34,412,163 (GRCm39) missense probably damaging 1.00
R8539:Tap1 UTSW 17 34,408,409 (GRCm39) missense probably benign
R8751:Tap1 UTSW 17 34,412,133 (GRCm39) missense probably benign 0.14
R8883:Tap1 UTSW 17 34,406,867 (GRCm39) missense unknown
R8885:Tap1 UTSW 17 34,408,536 (GRCm39) critical splice donor site probably null
R9191:Tap1 UTSW 17 34,413,956 (GRCm39) critical splice donor site probably null
R9232:Tap1 UTSW 17 34,412,277 (GRCm39) missense probably benign 0.00
R9604:Tap1 UTSW 17 34,412,172 (GRCm39) missense probably damaging 0.99
R9656:Tap1 UTSW 17 34,412,525 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTCACCCAGGCTGTTCAG -3'
(R):5'- TTCCAGGATGCAGGGTGAAC -3'

Sequencing Primer
(F):5'- ACCCAGGCTGTTCAGGTGAG -3'
(R):5'- TGCAGGGTGAACGTCAGC -3'
Posted On 2018-02-28