Incidental Mutation 'R6455:Abcb5'
ID 519568
Institutional Source Beutler Lab
Gene Symbol Abcb5
Ensembl Gene ENSMUSG00000072791
Gene Name ATP-binding cassette, sub-family B member 5
Synonyms 9230106F14Rik
MMRRC Submission 044591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R6455 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 118831559-118930156 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 118854284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035515]
AlphaFold B5X0E4
Predicted Effect probably null
Transcript: ENSMUST00000035515
SMART Domains Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791

DomainStartEndE-ValueType
Pfam:ABC_membrane 49 338 1.9e-74 PFAM
AAA 414 606 2.1e-19 SMART
Pfam:ABC_membrane 693 967 7.3e-59 PFAM
Blast:AAA 969 1040 2e-11 BLAST
AAA 1043 1231 8.26e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177311
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,042,376 (GRCm39) R1899G probably damaging Het
Abca6 C T 11: 110,132,407 (GRCm39) G296D probably damaging Het
Adam28 T G 14: 68,870,657 (GRCm39) T339P probably damaging Het
Adam34l T A 8: 44,079,189 (GRCm39) H345L probably damaging Het
Adcy10 C G 1: 165,345,943 (GRCm39) Q331E probably damaging Het
Aldh1a2 A T 9: 71,160,196 (GRCm39) probably null Het
Alms1 T A 6: 85,673,639 (GRCm39) I3078N probably damaging Het
Amtn A T 5: 88,528,139 (GRCm39) N71Y probably damaging Het
Arhgef18 A T 8: 3,438,753 (GRCm39) Y370F probably benign Het
Arid4a T C 12: 71,121,862 (GRCm39) S748P probably benign Het
Atp2b1 C A 10: 98,852,842 (GRCm39) Q108K possibly damaging Het
Bcdin3d T C 15: 99,368,830 (GRCm39) D123G probably benign Het
Capn15 A G 17: 26,184,410 (GRCm39) S24P probably damaging Het
Cc2d2a T A 5: 43,896,754 (GRCm39) S1550R possibly damaging Het
Ccdc7a C T 8: 129,559,091 (GRCm39) V1174M probably damaging Het
Cd22 T A 7: 30,575,578 (GRCm39) I155F probably damaging Het
Ceacam3 T C 7: 16,895,863 (GRCm39) I611T possibly damaging Het
Chrna1 C T 2: 73,397,180 (GRCm39) D370N possibly damaging Het
Dlg2 C A 7: 92,093,716 (GRCm39) probably null Het
Dll4 A T 2: 119,164,276 (GRCm39) probably null Het
Eif5b T C 1: 38,058,108 (GRCm39) S137P probably benign Het
Epn2 A T 11: 61,424,467 (GRCm39) M250K probably damaging Het
Fat2 T A 11: 55,161,283 (GRCm39) Q3149L probably damaging Het
Fbxl13 G A 5: 21,761,812 (GRCm39) S341F probably benign Het
Gm5141 A T 13: 62,922,597 (GRCm39) C191S probably damaging Het
Gm5150 C T 3: 16,044,815 (GRCm39) G137S probably damaging Het
Gpr75 C T 11: 30,841,529 (GRCm39) R145W probably damaging Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Ina G A 19: 47,012,000 (GRCm39) E473K probably benign Het
Irx6 T C 8: 93,402,700 (GRCm39) S22P probably benign Het
Itpr1 T A 6: 108,394,933 (GRCm39) M32K probably damaging Het
Jmjd1c T A 10: 67,061,795 (GRCm39) S1383T probably benign Het
Lclat1 T A 17: 73,468,828 (GRCm39) S3T probably damaging Het
Llgl1 G A 11: 60,600,486 (GRCm39) V612M probably damaging Het
Mios A G 6: 8,231,239 (GRCm39) R708G probably benign Het
Mphosph8 T C 14: 56,925,943 (GRCm39) L636P probably damaging Het
Mrgpra2b T A 7: 47,113,893 (GRCm39) N254Y probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Myog G A 1: 134,218,226 (GRCm39) D145N probably benign Het
Nat10 T A 2: 103,570,231 (GRCm39) I371F possibly damaging Het
Neb A T 2: 52,057,656 (GRCm39) Y229* probably null Het
Nlrp6 T A 7: 140,507,422 (GRCm39) I896K possibly damaging Het
Or11g7 A T 14: 50,691,042 (GRCm39) I178L possibly damaging Het
Or52p2 G A 7: 102,237,878 (GRCm39) A24V probably benign Het
Or5an11 T C 19: 12,246,070 (GRCm39) S159P probably damaging Het
Pate5 T A 9: 35,755,351 (GRCm39) K3* probably null Het
Pcdhgc5 A C 18: 37,954,301 (GRCm39) E525A probably damaging Het
Pira1 T A 7: 3,741,930 (GRCm39) Y150F probably benign Het
Pkd2 C A 5: 104,607,790 (GRCm39) D96E probably benign Het
Prtg A G 9: 72,815,138 (GRCm39) D1022G probably damaging Het
Ptpn13 T C 5: 103,689,150 (GRCm39) M981T probably benign Het
Rc3h2 C A 2: 37,299,482 (GRCm39) A183S probably damaging Het
Rorb A T 19: 18,937,856 (GRCm39) I270N probably damaging Het
Rpgrip1 C T 14: 52,378,646 (GRCm39) R524W probably damaging Het
Slc25a10 T C 11: 120,386,031 (GRCm39) V124A probably damaging Het
Slc40a1 T A 1: 45,958,107 (GRCm39) I109F probably damaging Het
Spen G A 4: 141,202,820 (GRCm39) R1936W probably damaging Het
St6gal2 T A 17: 55,789,514 (GRCm39) Y183N probably benign Het
Svil A G 18: 5,056,629 (GRCm39) K588E possibly damaging Het
Tas2r122 C T 6: 132,688,626 (GRCm39) W89* probably null Het
Tbxas1 T A 6: 38,929,079 (GRCm39) probably benign Het
Tia1 T A 6: 86,397,360 (GRCm39) I111N probably damaging Het
Tlr9 T A 9: 106,101,198 (GRCm39) L163H probably damaging Het
Tnn C T 1: 159,942,289 (GRCm39) V806M probably damaging Het
Traf5 G A 1: 191,731,887 (GRCm39) A318V probably benign Het
Ttc3 T A 16: 94,219,482 (GRCm39) M1K probably null Het
Utp25 G T 1: 192,810,684 (GRCm39) D106E probably benign Het
Vmn1r192 T A 13: 22,372,000 (GRCm39) R73S probably benign Het
Vmn1r71 T C 7: 10,482,331 (GRCm39) Y53C probably benign Het
Vmn2r34 T A 7: 7,686,582 (GRCm39) N372Y probably damaging Het
Wbp2 A T 11: 115,970,579 (GRCm39) S229R probably damaging Het
Wdr18 C T 10: 79,801,115 (GRCm39) T176I probably damaging Het
Other mutations in Abcb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Abcb5 APN 12 118,854,345 (GRCm39) missense probably benign 0.03
IGL00092:Abcb5 APN 12 118,892,430 (GRCm39) missense probably benign 0.09
IGL00503:Abcb5 APN 12 118,871,336 (GRCm39) missense probably benign 0.02
IGL00776:Abcb5 APN 12 118,883,589 (GRCm39) missense probably damaging 1.00
IGL01116:Abcb5 APN 12 118,849,911 (GRCm39) missense probably benign
IGL01302:Abcb5 APN 12 118,881,935 (GRCm39) missense probably damaging 1.00
IGL01403:Abcb5 APN 12 118,836,602 (GRCm39) missense probably damaging 1.00
IGL01453:Abcb5 APN 12 118,831,705 (GRCm39) missense probably damaging 1.00
IGL01541:Abcb5 APN 12 118,875,169 (GRCm39) missense probably benign 0.03
IGL01784:Abcb5 APN 12 118,854,399 (GRCm39) missense probably benign 0.14
IGL01967:Abcb5 APN 12 118,831,707 (GRCm39) missense probably damaging 1.00
IGL01987:Abcb5 APN 12 118,891,093 (GRCm39) missense probably damaging 1.00
IGL02104:Abcb5 APN 12 118,904,415 (GRCm39) missense probably damaging 1.00
IGL02161:Abcb5 APN 12 118,838,490 (GRCm39) missense probably benign
IGL02292:Abcb5 APN 12 118,881,932 (GRCm39) missense probably damaging 1.00
IGL02381:Abcb5 APN 12 118,904,413 (GRCm39) missense probably damaging 1.00
IGL02544:Abcb5 APN 12 118,870,003 (GRCm39) splice site probably benign
IGL02685:Abcb5 APN 12 118,869,682 (GRCm39) missense probably damaging 0.99
IGL02824:Abcb5 APN 12 118,854,420 (GRCm39) missense probably benign 0.05
IGL02876:Abcb5 APN 12 118,883,576 (GRCm39) missense probably damaging 1.00
IGL02929:Abcb5 APN 12 118,908,674 (GRCm39) missense probably damaging 0.99
IGL03030:Abcb5 APN 12 118,904,104 (GRCm39) missense possibly damaging 0.93
IGL03062:Abcb5 APN 12 118,899,822 (GRCm39) missense probably benign 0.43
IGL03200:Abcb5 APN 12 118,928,989 (GRCm39) splice site probably benign
IGL03407:Abcb5 APN 12 118,904,111 (GRCm39) missense probably benign 0.01
alphabet UTSW 12 118,854,353 (GRCm39) missense possibly damaging 0.67
google UTSW 12 118,831,665 (GRCm39) missense possibly damaging 0.93
F5770:Abcb5 UTSW 12 118,849,914 (GRCm39) missense probably benign 0.07
PIT4366001:Abcb5 UTSW 12 118,899,833 (GRCm39) missense probably damaging 1.00
PIT4434001:Abcb5 UTSW 12 118,854,422 (GRCm39) missense probably damaging 1.00
R0078:Abcb5 UTSW 12 118,891,129 (GRCm39) missense probably benign
R0219:Abcb5 UTSW 12 118,849,885 (GRCm39) splice site probably benign
R0312:Abcb5 UTSW 12 118,836,572 (GRCm39) missense probably damaging 1.00
R0347:Abcb5 UTSW 12 118,928,986 (GRCm39) splice site probably benign
R0359:Abcb5 UTSW 12 118,904,067 (GRCm39) missense probably damaging 1.00
R0433:Abcb5 UTSW 12 118,841,545 (GRCm39) missense probably benign 0.03
R0582:Abcb5 UTSW 12 118,904,147 (GRCm39) missense probably benign 0.40
R0815:Abcb5 UTSW 12 118,865,184 (GRCm39) splice site probably benign
R0900:Abcb5 UTSW 12 118,904,359 (GRCm39) missense probably damaging 1.00
R0942:Abcb5 UTSW 12 118,869,933 (GRCm39) missense possibly damaging 0.94
R0988:Abcb5 UTSW 12 118,896,310 (GRCm39) missense probably benign 0.36
R1125:Abcb5 UTSW 12 118,875,282 (GRCm39) missense possibly damaging 0.87
R1437:Abcb5 UTSW 12 118,838,497 (GRCm39) missense probably damaging 0.99
R1469:Abcb5 UTSW 12 118,831,681 (GRCm39) missense possibly damaging 0.83
R1469:Abcb5 UTSW 12 118,831,681 (GRCm39) missense possibly damaging 0.83
R1678:Abcb5 UTSW 12 118,929,064 (GRCm39) start gained probably benign
R1726:Abcb5 UTSW 12 118,871,267 (GRCm39) missense possibly damaging 0.95
R1726:Abcb5 UTSW 12 118,838,536 (GRCm39) splice site probably null
R1836:Abcb5 UTSW 12 118,831,696 (GRCm39) missense possibly damaging 0.93
R1934:Abcb5 UTSW 12 118,871,235 (GRCm39) splice site probably null
R1976:Abcb5 UTSW 12 118,854,417 (GRCm39) missense probably benign
R2005:Abcb5 UTSW 12 118,841,562 (GRCm39) missense probably benign 0.15
R2068:Abcb5 UTSW 12 118,904,303 (GRCm39) nonsense probably null
R2181:Abcb5 UTSW 12 118,831,681 (GRCm39) missense possibly damaging 0.83
R2191:Abcb5 UTSW 12 118,831,691 (GRCm39) missense probably damaging 1.00
R3690:Abcb5 UTSW 12 118,836,668 (GRCm39) missense probably damaging 1.00
R3746:Abcb5 UTSW 12 118,838,355 (GRCm39) missense probably damaging 0.99
R3825:Abcb5 UTSW 12 118,865,087 (GRCm39) splice site probably null
R3919:Abcb5 UTSW 12 118,854,353 (GRCm39) missense possibly damaging 0.67
R4049:Abcb5 UTSW 12 118,832,404 (GRCm39) missense probably damaging 0.99
R4409:Abcb5 UTSW 12 118,836,657 (GRCm39) missense probably damaging 0.98
R4606:Abcb5 UTSW 12 118,896,345 (GRCm39) critical splice acceptor site probably null
R4705:Abcb5 UTSW 12 118,929,040 (GRCm39) missense possibly damaging 0.95
R4954:Abcb5 UTSW 12 118,875,169 (GRCm39) missense probably benign 0.03
R4966:Abcb5 UTSW 12 118,850,626 (GRCm39) intron probably benign
R5169:Abcb5 UTSW 12 118,841,552 (GRCm39) nonsense probably null
R5327:Abcb5 UTSW 12 118,875,278 (GRCm39) missense probably benign 0.01
R5333:Abcb5 UTSW 12 118,831,677 (GRCm39) missense probably damaging 1.00
R5366:Abcb5 UTSW 12 118,831,665 (GRCm39) missense possibly damaging 0.93
R5373:Abcb5 UTSW 12 118,850,912 (GRCm39) missense probably damaging 1.00
R5399:Abcb5 UTSW 12 118,875,234 (GRCm39) missense probably benign
R5416:Abcb5 UTSW 12 118,871,331 (GRCm39) missense probably damaging 1.00
R5447:Abcb5 UTSW 12 118,891,061 (GRCm39) missense probably damaging 1.00
R5474:Abcb5 UTSW 12 118,904,425 (GRCm39) missense probably null 1.00
R5566:Abcb5 UTSW 12 118,899,702 (GRCm39) missense probably damaging 0.99
R5685:Abcb5 UTSW 12 118,896,348 (GRCm39) splice site probably null
R5691:Abcb5 UTSW 12 118,890,970 (GRCm39) missense probably damaging 0.99
R5742:Abcb5 UTSW 12 118,881,992 (GRCm39) missense probably damaging 0.96
R5852:Abcb5 UTSW 12 118,891,139 (GRCm39) missense probably damaging 0.99
R5917:Abcb5 UTSW 12 118,832,516 (GRCm39) nonsense probably null
R5994:Abcb5 UTSW 12 118,928,995 (GRCm39) critical splice donor site probably null
R6295:Abcb5 UTSW 12 118,838,379 (GRCm39) missense probably damaging 0.99
R6609:Abcb5 UTSW 12 118,892,497 (GRCm39) missense probably damaging 1.00
R6753:Abcb5 UTSW 12 118,908,641 (GRCm39) missense possibly damaging 0.86
R6818:Abcb5 UTSW 12 118,865,089 (GRCm39) splice site probably null
R6870:Abcb5 UTSW 12 118,929,000 (GRCm39) missense possibly damaging 0.87
R6944:Abcb5 UTSW 12 118,875,265 (GRCm39) missense probably benign 0.06
R6957:Abcb5 UTSW 12 118,871,270 (GRCm39) missense probably damaging 1.00
R6984:Abcb5 UTSW 12 118,891,012 (GRCm39) missense possibly damaging 0.47
R7021:Abcb5 UTSW 12 118,895,660 (GRCm39) missense probably benign 0.00
R7061:Abcb5 UTSW 12 118,841,509 (GRCm39) missense probably damaging 1.00
R7175:Abcb5 UTSW 12 118,831,611 (GRCm39) missense probably benign 0.00
R7239:Abcb5 UTSW 12 118,892,460 (GRCm39) missense probably benign 0.19
R7267:Abcb5 UTSW 12 118,916,205 (GRCm39) missense probably damaging 1.00
R7303:Abcb5 UTSW 12 118,875,295 (GRCm39) missense probably damaging 0.96
R7396:Abcb5 UTSW 12 118,831,609 (GRCm39) missense probably damaging 1.00
R7605:Abcb5 UTSW 12 118,881,899 (GRCm39) missense probably damaging 1.00
R7989:Abcb5 UTSW 12 118,875,278 (GRCm39) missense probably benign 0.01
R8177:Abcb5 UTSW 12 118,836,525 (GRCm39) missense possibly damaging 0.65
R8296:Abcb5 UTSW 12 118,838,467 (GRCm39) missense probably benign 0.01
R8544:Abcb5 UTSW 12 118,832,461 (GRCm39) missense probably damaging 1.00
R8558:Abcb5 UTSW 12 118,841,566 (GRCm39) missense probably benign 0.07
R8790:Abcb5 UTSW 12 118,831,620 (GRCm39) missense possibly damaging 0.91
R9003:Abcb5 UTSW 12 118,850,013 (GRCm39) missense possibly damaging 0.93
R9038:Abcb5 UTSW 12 118,895,651 (GRCm39) missense probably benign
R9410:Abcb5 UTSW 12 118,869,703 (GRCm39) missense probably benign 0.00
R9497:Abcb5 UTSW 12 118,899,850 (GRCm39) missense probably damaging 0.96
R9666:Abcb5 UTSW 12 118,838,422 (GRCm39) missense probably damaging 0.98
R9682:Abcb5 UTSW 12 118,896,328 (GRCm39) missense probably damaging 0.99
R9756:Abcb5 UTSW 12 118,881,873 (GRCm39) missense probably damaging 0.98
V7580:Abcb5 UTSW 12 118,849,914 (GRCm39) missense probably benign 0.07
Z1176:Abcb5 UTSW 12 118,882,007 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGAGGATCCATGGCATTCG -3'
(R):5'- GCAGCAACTTCAAGACTTGG -3'

Sequencing Primer
(F):5'- GGATCCATGGCATTCGAAAAATC -3'
(R):5'- GCAACTTCAAGACTTGGGATCGTAAC -3'
Posted On 2018-05-24