Incidental Mutation 'R2355:Abcb9'
ID 246861
Institutional Source Beutler Lab
Gene Symbol Abcb9
Ensembl Gene ENSMUSG00000029408
Gene Name ATP-binding cassette, sub-family B member 9
Synonyms TAPL
MMRRC Submission 040337-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2355 (G1)
Quality Score 217
Status Not 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: 97.5%
  • 20x: 95.5%
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl1 A G 3: 107,577,533 (GRCm39) S296P probably damaging Het
Alas1 A G 9: 106,113,673 (GRCm39) V524A probably damaging Het
Amn C A 12: 111,238,246 (GRCm39) D53E probably damaging Het
Bbof1 A G 12: 84,470,223 (GRCm39) E33G probably damaging Het
Ccdc149 T C 5: 52,578,114 (GRCm39) E106G probably damaging Het
Ceacam5 T A 7: 17,479,560 (GRCm39) S226T probably damaging Het
Chd7 G T 4: 8,801,350 (GRCm39) S698I possibly damaging Het
Chst2 A G 9: 95,288,148 (GRCm39) L66P probably damaging Het
Cps1 C T 1: 67,195,383 (GRCm39) P268L probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp3a59 A T 5: 146,036,622 (GRCm39) M275L probably benign Het
Ddx41 T G 13: 55,682,113 (GRCm39) M232L probably benign Het
Dnah6 C A 6: 73,133,404 (GRCm39) A1068S possibly damaging Het
Dnah7a T C 1: 53,621,661 (GRCm39) I1155V probably benign Het
Dop1b G A 16: 93,567,565 (GRCm39) V611I probably damaging Het
Epyc A G 10: 97,512,875 (GRCm39) Y243C probably damaging Het
Fam171a1 C T 2: 3,226,570 (GRCm39) Q568* probably null Het
Gm5930 A G 14: 44,573,918 (GRCm39) S105P probably damaging Het
Golga4 A G 9: 118,389,810 (GRCm39) D2032G probably benign Het
Gps2 AGTGCT A 11: 69,806,207 (GRCm39) probably null Het
H2-DMb1 A G 17: 34,376,289 (GRCm39) Y136C probably damaging Het
Il12b A G 11: 44,301,039 (GRCm39) E185G probably benign Het
Kat7 A C 11: 95,182,407 (GRCm39) I231R probably benign Het
Kcmf1 A T 6: 72,827,466 (GRCm39) I58N probably damaging Het
Lmf2 A T 15: 89,235,966 (GRCm39) V646E possibly damaging Het
Lmo7 A G 14: 102,126,121 (GRCm39) Q409R probably damaging Het
Lmod1 T A 1: 135,292,253 (GRCm39) H369Q probably benign Het
M1ap G A 6: 82,933,484 (GRCm39) A13T probably benign Het
Mapk8ip2 G T 15: 89,343,168 (GRCm39) V637L probably benign Het
Mettl25 C A 10: 105,599,316 (GRCm39) V570L probably benign Het
Mfsd1 T A 3: 67,508,668 (GRCm39) N449K probably damaging Het
Or56a5 A T 7: 104,793,020 (GRCm39) M166K probably benign Het
Or5b24 T C 19: 12,912,383 (GRCm39) S94P possibly damaging Het
Or5d18 T A 2: 87,865,379 (GRCm39) I35F probably damaging Het
Or6c209 G A 10: 129,483,711 (GRCm39) C238Y probably benign Het
Pcdhb5 T A 18: 37,455,169 (GRCm39) S516R probably benign Het
Plppr3 C T 10: 79,701,194 (GRCm39) M549I possibly damaging Het
Ppl A G 16: 4,912,361 (GRCm39) V740A probably benign Het
Rabgef1 C T 5: 130,240,928 (GRCm39) T349M probably benign Het
Rad51ap2 T C 12: 11,507,109 (GRCm39) C344R probably benign Het
Shank2 A G 7: 143,611,455 (GRCm39) Q172R possibly damaging Het
Smg9 G A 7: 24,119,546 (GRCm39) probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trim42 A T 9: 97,241,293 (GRCm39) N646K probably damaging Het
Usp32 T C 11: 84,896,735 (GRCm39) I1181V probably benign Het
Vwa5b1 C A 4: 138,319,221 (GRCm39) probably null 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
R2358: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'- GCTGTTCTTACCTGTAGGACC -3'
(R):5'- ACACAGTGGCGTTACATTCCC -3'

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