Incidental Mutation 'R5715:Tap1'
ID 451144
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
MMRRC Submission 043336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5715 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34406530-34416199 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 34411868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 91 (R91*)
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 benign
Transcript: ENSMUST00000041633
SMART Domains Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321

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 null
Transcript: ENSMUST00000171148
AA Change: R91*
SMART Domains Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
AA Change: R91*

DomainStartEndE-ValueType
Pfam:ABC_membrane 1 114 1.5e-24 PFAM
Pfam:ABC_tran 167 196 1e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170086
AA Change: R412*
SMART Domains Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: R412*

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 probably benign
Transcript: ENSMUST00000173441
SMART Domains Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338

DomainStartEndE-ValueType
Pfam:Proteasome 69 248 6.3e-53 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,777 (GRCm39) Y552F probably damaging Het
Asprv1 T A 6: 86,605,596 (GRCm39) D147E probably benign Het
Atg4c G T 4: 99,146,639 (GRCm39) L405F probably damaging Het
Birc6 C T 17: 74,938,615 (GRCm39) L2670F probably damaging Het
Cdc20 T C 4: 118,292,015 (GRCm39) D379G probably damaging Het
Chd6 T C 2: 160,791,798 (GRCm39) M2520V probably benign Het
Clca4b A G 3: 144,619,018 (GRCm39) V707A probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col12a1 A T 9: 79,523,347 (GRCm39) C2743* probably null Het
Coq6 C A 12: 84,413,681 (GRCm39) D70E probably benign Het
Cspg4 T A 9: 56,798,335 (GRCm39) V1450D possibly damaging Het
Dnah7a A G 1: 53,452,937 (GRCm39) L3847P probably damaging Het
Drd2 T A 9: 49,316,189 (GRCm39) H316Q probably benign Het
Dusp19 T A 2: 80,461,330 (GRCm39) N206K probably benign Het
Fam13c T G 10: 70,370,670 (GRCm39) F270C probably damaging Het
Fam20a T C 11: 109,569,257 (GRCm39) E246G probably damaging Het
Fbxo31 A G 8: 122,305,302 (GRCm39) F65L probably damaging Het
Fshr T A 17: 89,293,824 (GRCm39) probably null Het
Fstl4 T C 11: 52,891,243 (GRCm39) V127A possibly damaging Het
Gdpd4 A T 7: 97,610,804 (GRCm39) I75F probably benign Het
Grm5 C A 7: 87,779,464 (GRCm39) A968E probably benign Het
Gucy2g A C 19: 55,221,587 (GRCm39) F305V possibly damaging Het
Hivep3 T C 4: 119,953,570 (GRCm39) F629L probably benign Het
Hoxb1 A G 11: 96,257,152 (GRCm39) E167G probably benign Het
Hoxd4 T C 2: 74,557,708 (GRCm39) L29P probably damaging Het
Ikbkb A G 8: 23,168,866 (GRCm39) L211P probably damaging Het
Insc T C 7: 114,449,076 (GRCm39) V499A probably benign Het
Irak3 A T 10: 119,978,641 (GRCm39) H511Q possibly damaging Het
Itpripl1 T C 2: 126,983,927 (GRCm39) E65G probably damaging Het
Lurap1l T A 4: 80,871,958 (GRCm39) S150R possibly damaging Het
Mab21l3 C T 3: 101,730,723 (GRCm39) R172Q probably benign Het
Macf1 T C 4: 123,577,807 (GRCm39) D59G probably damaging Het
Mettl21a A T 1: 64,654,314 (GRCm39) S68T probably benign Het
Mlxip T A 5: 123,578,121 (GRCm39) W146R probably damaging Het
Mpp2 T A 11: 101,953,087 (GRCm39) N285I probably damaging Het
Mrgprb4 T C 7: 47,848,787 (GRCm39) N47S probably damaging Het
Msi2 A G 11: 88,276,889 (GRCm39) Y237H probably damaging Het
Muc4 C T 16: 32,570,734 (GRCm39) T598I possibly damaging Het
Musk A T 4: 58,333,663 (GRCm39) I253F probably damaging Het
Myo5b G T 18: 74,875,246 (GRCm39) C1550F possibly damaging Het
Nckap5l T C 15: 99,321,457 (GRCm39) T1137A probably benign Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nxph1 T A 6: 9,247,740 (GRCm39) V237E probably damaging Het
Or52a33 A C 7: 103,289,009 (GRCm39) S113A probably damaging Het
Pla2g12a A G 3: 129,688,591 (GRCm39) K150E probably damaging Het
Potegl T C 2: 23,097,989 (GRCm39) Y56H possibly damaging Het
Pramel30 A G 4: 144,057,870 (GRCm39) D159G possibly damaging Het
Ptpn23 G A 9: 110,216,143 (GRCm39) R1238W probably damaging Het
Pts C T 9: 50,433,578 (GRCm39) G124R probably damaging Het
Rfk A T 19: 17,376,002 (GRCm39) I99F probably benign Het
Rictor A T 15: 6,780,197 (GRCm39) R151* probably null Het
Scn2a T A 2: 65,547,928 (GRCm39) I1040N probably benign Het
Serinc5 A C 13: 92,842,710 (GRCm39) T387P probably damaging Het
Sh3bp5l A G 11: 58,236,841 (GRCm39) Q266R possibly damaging Het
Slc14a2 T C 18: 78,201,551 (GRCm39) Y656C probably damaging Het
Slc26a3 T A 12: 31,498,842 (GRCm39) probably null Het
Slc3a2 G T 19: 8,685,594 (GRCm39) H168Q probably benign Het
Smarca2 A T 19: 26,626,522 (GRCm39) I449L probably benign Het
Smarcc1 T C 9: 110,025,435 (GRCm39) V704A possibly damaging Het
Sox13 A G 1: 133,313,921 (GRCm39) probably null Het
Sptbn5 T C 2: 119,902,985 (GRCm39) E7G probably damaging Het
Stard10 A G 7: 100,971,110 (GRCm39) D26G probably damaging Het
Tgfbrap1 A T 1: 43,099,097 (GRCm39) V239D possibly damaging Het
Tmem209 A T 6: 30,497,922 (GRCm39) Y124* probably null Het
Tmprss2 T A 16: 97,370,183 (GRCm39) E327V possibly damaging Het
Ttbk1 T C 17: 46,790,133 (GRCm39) Y104C probably damaging Het
Ttll10 A T 4: 156,129,848 (GRCm39) F154I probably damaging Het
Ubn2 T A 6: 38,438,412 (GRCm39) Y40* probably null Het
Ubr5 A T 15: 38,002,477 (GRCm39) S1519T probably benign Het
Ugt3a1 A C 15: 9,306,430 (GRCm39) D193A probably damaging Het
Upf1 A T 8: 70,805,628 (GRCm39) Y6N probably damaging Het
Vmn2r103 A T 17: 20,015,201 (GRCm39) D447V probably benign Het
Vps39 T C 2: 120,155,717 (GRCm39) N519S possibly damaging Het
Zfp109 T C 7: 23,928,995 (GRCm39) E138G possibly damaging Het
Znrf3 A C 11: 5,236,239 (GRCm39) V157G 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
R5838:Tap1 UTSW 17 34,412,279 (GRCm39) nonsense probably null
R6248:Tap1 UTSW 17 34,412,151 (GRCm39) missense probably damaging 0.99
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'- AATGCTCCTGAAACAAGGAGCC -3'
(R):5'- CGTCTAACCTGCTTGACAGC -3'

Sequencing Primer
(F):5'- ACATGGAAGATGTGAGCTGTG -3'
(R):5'- GCTTGACAGCATTCAGGGAAC -3'
Posted On 2017-01-03