Incidental Mutation 'R2358:Abcb9'
ID 247005
Institutional Source Beutler Lab
Gene Symbol Abcb9
Ensembl Gene ENSMUSG00000029408
Gene Name ATP-binding cassette, sub-family B member 9
Synonyms TAPL
MMRRC Submission 040340-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2358 (G1)
Quality Score 202
Status Validated
Chromosome 5
Chromosomal Location 124199920-124234009 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CGG to CG at 124215368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031354] [ENSMUST00000126856] [ENSMUST00000141510]
AlphaFold Q9JJ59
Predicted Effect probably null
Transcript: ENSMUST00000031354
SMART Domains Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 82 104 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
Pfam:ABC_membrane 184 453 1.9e-61 PFAM
AAA 527 713 4.07e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126856
SMART Domains Protein: ENSMUSP00000118908
Gene: ENSMUSG00000029408

DomainStartEndE-ValueType
transmembrane domain 7 27 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 82 104 N/A INTRINSIC
transmembrane domain 114 136 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 218 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141510
SMART Domains Protein: ENSMUSP00000122969
Gene: ENSMUSG00000029408

DomainStartEndE-ValueType
transmembrane domain 7 27 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 82 104 N/A INTRINSIC
transmembrane domain 114 136 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 218 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196486
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
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 as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may be associated with lysosome activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1l T A 2: 31,859,763 (GRCm39) F94L probably damaging Het
Ankzf1 C T 1: 75,171,895 (GRCm39) H209Y probably damaging Het
Ate1 A T 7: 130,117,895 (GRCm39) M30K probably damaging Het
Cd27 A G 6: 125,210,281 (GRCm39) Y189H probably damaging Het
Cela1 A G 15: 100,579,109 (GRCm39) I183T probably benign Het
Copg2 A T 6: 30,803,168 (GRCm39) L259* probably null Het
Dennd2b A T 7: 109,155,653 (GRCm39) S366T probably benign Het
Efcab7 T A 4: 99,719,823 (GRCm39) probably benign Het
Fcrl5 A G 3: 87,353,726 (GRCm39) E357G probably damaging Het
Fzr1 C T 10: 81,203,474 (GRCm39) probably null Het
Il12rb2 C T 6: 67,275,179 (GRCm39) A649T probably damaging Het
Itfg1 C A 8: 86,464,758 (GRCm39) V438F probably damaging Het
Jaml A C 9: 45,012,361 (GRCm39) I283L possibly damaging Het
Kif28 A T 1: 179,537,024 (GRCm39) H486Q probably damaging Het
Lrch4 A G 5: 137,636,810 (GRCm39) probably benign Het
Lrfn2 A G 17: 49,378,188 (GRCm39) E423G possibly damaging Het
Lrp4 T A 2: 91,332,299 (GRCm39) N1665K probably benign Het
Mrpl32 A T 13: 14,785,165 (GRCm39) V157E probably damaging Het
Mta3 A G 17: 84,070,417 (GRCm39) I193V probably damaging Het
Myom2 G A 8: 15,162,018 (GRCm39) V984I possibly damaging Het
Nedd4l G A 18: 65,342,790 (GRCm39) V909I possibly damaging Het
Nlrp4a A G 7: 26,163,623 (GRCm39) D930G probably benign Het
Or10al5 T A 17: 38,063,271 (GRCm39) C175* probably null Het
Or5d47 A T 2: 87,804,066 (GRCm39) N314K probably benign Het
Or7a35 T C 10: 78,854,022 (GRCm39) F289L probably damaging Het
Ovch2 A T 7: 107,394,122 (GRCm39) H110Q probably damaging Het
Pcnx3 G A 19: 5,733,367 (GRCm39) Q155* probably null Het
Pcnx3 C G 19: 5,733,368 (GRCm39) L1F probably null Het
Pi4k2a G A 19: 42,079,131 (GRCm39) R64Q probably damaging Het
Ptpn12 G A 5: 21,203,690 (GRCm39) P363S probably damaging Het
Rbm27 T C 18: 42,425,177 (GRCm39) probably benign Het
Ripor3 A G 2: 167,825,785 (GRCm39) probably benign Het
Rpl13-ps3 A G 14: 59,131,265 (GRCm39) noncoding transcript Het
Sap18b G A 8: 96,552,191 (GRCm39) R67H probably benign Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Shmt2 T C 10: 127,353,897 (GRCm39) T459A probably benign Het
Siglecg A G 7: 43,058,846 (GRCm39) S200G possibly damaging Het
Slc6a15 T G 10: 103,252,646 (GRCm39) I603S probably benign Het
Smtn A T 11: 3,482,865 (GRCm39) probably null Het
Spata31d1a G A 13: 59,851,702 (GRCm39) S142L probably benign Het
Spopfm2 G A 3: 94,082,854 (GRCm39) A319V possibly damaging Het
Spopfm2 C A 3: 94,082,855 (GRCm39) A319S possibly damaging Het
Spopl C T 2: 23,427,392 (GRCm39) R221Q probably damaging Het
Strip1 A G 3: 107,523,135 (GRCm39) V633A probably benign Het
Sun2 A G 15: 79,612,114 (GRCm39) S522P possibly damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Terb2 T A 2: 122,028,913 (GRCm39) C157S probably benign Het
Themis T A 10: 28,739,376 (GRCm39) N615K possibly damaging Het
Tlnrd1 A T 7: 83,531,488 (GRCm39) D314E probably benign Het
Vmn1r205 T A 13: 22,776,566 (GRCm39) T179S probably benign Het
Vsig10l G A 7: 43,118,185 (GRCm39) R689H probably benign Het
Wt1 G A 2: 104,993,773 (GRCm39) probably benign Het
Zfp423 G T 8: 88,507,179 (GRCm39) A1034D possibly damaging Het
Zfy2 T C Y: 2,107,272 (GRCm39) E454G possibly damaging Het
Zyg11a G T 4: 108,053,343 (GRCm39) Q440K possibly damaging Het
Other mutations in Abcb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Abcb9 APN 5 124,215,301 (GRCm39) missense possibly damaging 0.90
R0045:Abcb9 UTSW 5 124,220,148 (GRCm39) missense probably damaging 0.96
R0106:Abcb9 UTSW 5 124,221,123 (GRCm39) missense possibly damaging 0.70
R0153:Abcb9 UTSW 5 124,218,119 (GRCm39) missense probably benign 0.00
R0194:Abcb9 UTSW 5 124,215,358 (GRCm39) missense probably damaging 0.99
R0458:Abcb9 UTSW 5 124,220,209 (GRCm39) critical splice acceptor site probably null
R0669:Abcb9 UTSW 5 124,200,950 (GRCm39) missense probably damaging 0.97
R1240:Abcb9 UTSW 5 124,227,984 (GRCm39) missense probably benign 0.02
R1480:Abcb9 UTSW 5 124,216,889 (GRCm39) missense probably benign 0.00
R1544:Abcb9 UTSW 5 124,221,694 (GRCm39) missense probably benign
R1878:Abcb9 UTSW 5 124,228,199 (GRCm39) missense probably benign 0.02
R2355:Abcb9 UTSW 5 124,215,368 (GRCm39) frame shift probably null
R2520:Abcb9 UTSW 5 124,218,091 (GRCm39) splice site probably null
R2926:Abcb9 UTSW 5 124,216,902 (GRCm39) missense possibly damaging 0.84
R3795:Abcb9 UTSW 5 124,228,212 (GRCm39) missense probably benign 0.05
R3911:Abcb9 UTSW 5 124,227,909 (GRCm39) missense probably benign 0.06
R4679:Abcb9 UTSW 5 124,216,867 (GRCm39) missense probably benign 0.20
R4789:Abcb9 UTSW 5 124,216,853 (GRCm39) missense probably benign 0.00
R4821:Abcb9 UTSW 5 124,228,212 (GRCm39) missense probably benign 0.05
R5116:Abcb9 UTSW 5 124,216,930 (GRCm39) missense probably damaging 1.00
R5804:Abcb9 UTSW 5 124,218,118 (GRCm39) missense probably benign
R5997:Abcb9 UTSW 5 124,227,878 (GRCm39) missense possibly damaging 0.85
R6197:Abcb9 UTSW 5 124,209,812 (GRCm39) nonsense probably null
R7172:Abcb9 UTSW 5 124,200,869 (GRCm39) nonsense probably null
R7705:Abcb9 UTSW 5 124,220,018 (GRCm39) nonsense probably null
R7783:Abcb9 UTSW 5 124,216,875 (GRCm39) nonsense probably null
R7953:Abcb9 UTSW 5 124,211,665 (GRCm39) missense probably damaging 1.00
R7994:Abcb9 UTSW 5 124,220,090 (GRCm39) missense probably benign 0.13
R8043:Abcb9 UTSW 5 124,211,665 (GRCm39) missense probably damaging 1.00
R8079:Abcb9 UTSW 5 124,221,186 (GRCm39) missense possibly damaging 0.91
R8099:Abcb9 UTSW 5 124,215,308 (GRCm39) missense probably benign 0.02
R8395:Abcb9 UTSW 5 124,218,280 (GRCm39) missense possibly damaging 0.70
R8790:Abcb9 UTSW 5 124,215,304 (GRCm39) missense probably damaging 1.00
R8927:Abcb9 UTSW 5 124,221,706 (GRCm39) missense probably benign 0.00
R8928:Abcb9 UTSW 5 124,221,706 (GRCm39) missense probably benign 0.00
R9102:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9108:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9135:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9136:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9138:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9217:Abcb9 UTSW 5 124,214,090 (GRCm39) missense possibly damaging 0.95
R9337:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9338:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9339:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9412:Abcb9 UTSW 5 124,221,753 (GRCm39) missense probably benign 0.03
R9461:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9481:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9512:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
R9520:Abcb9 UTSW 5 124,228,176 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- CTGTTCTTACCTGTAGGACCTGTG -3'
(R):5'- ACAGTGGCGTTACATTCCCC -3'

Sequencing Primer
(F):5'- ACCTGTAGGACCTGTGTGTGG -3'
(R):5'- ATCAGTGGTAGGTGTCAG -3'
Posted On 2014-10-30