Incidental Mutation 'R1934:Abcb5'
ID 215723
Institutional Source Beutler Lab
Gene Symbol Abcb5
Ensembl Gene ENSMUSG00000072791
Gene Name ATP-binding cassette, sub-family B member 5
Synonyms 9230106F14Rik
MMRRC Submission 039952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R1934 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 118831559-118930156 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 118871235 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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,626,792 (GRCm39) L548P probably damaging Het
Abca6 A G 11: 110,100,909 (GRCm39) probably null Het
Acacb G A 5: 114,336,343 (GRCm39) A686T probably benign Het
Acot6 T C 12: 84,153,367 (GRCm39) V203A probably benign Het
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adamts9 A G 6: 92,920,102 (GRCm39) L12P possibly damaging Het
Adamtsl2 A T 2: 26,979,605 (GRCm39) D258V probably damaging Het
Aox4 G A 1: 58,285,095 (GRCm39) V616I probably benign Het
Ap1m1 A G 8: 73,009,637 (GRCm39) I382V probably damaging Het
Arhgef2 G A 3: 88,537,098 (GRCm39) R8Q probably damaging Het
Arhgef37 T G 18: 61,657,014 (GRCm39) E17A probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Arih1 T C 9: 59,302,215 (GRCm39) D431G probably damaging Het
Astn2 C T 4: 65,353,426 (GRCm39) V1115M probably damaging Het
Atg7 T A 6: 114,678,196 (GRCm39) M280K probably damaging Het
Birc2 T C 9: 7,854,500 (GRCm39) T397A possibly damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Cdadc1 A T 14: 59,827,309 (GRCm39) S121T possibly damaging Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Cenpb A G 2: 131,021,184 (GRCm39) S205P probably benign Het
Chsy1 T C 7: 65,821,991 (GRCm39) V742A probably damaging Het
Col12a1 G A 9: 79,511,804 (GRCm39) R133* probably null Het
Col18a1 A C 10: 76,948,578 (GRCm39) S311R possibly damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Coq2 T A 5: 100,809,731 (GRCm39) R17S probably damaging Het
Ctf1 A G 7: 127,311,936 (GRCm39) R4G probably damaging Het
Cwc27 T C 13: 104,768,184 (GRCm39) D437G probably benign Het
Cyp4f14 T C 17: 33,125,289 (GRCm39) N430D probably damaging Het
Dars2 A G 1: 160,890,811 (GRCm39) probably null Het
Dgkz A T 2: 91,767,449 (GRCm39) M848K possibly damaging Het
Dnhd1 T G 7: 105,357,789 (GRCm39) V3208G probably benign Het
Dsg1b A G 18: 20,528,963 (GRCm39) Y233C probably damaging Het
Edem3 A T 1: 151,680,034 (GRCm39) D460V probably damaging Het
Ednra A G 8: 78,415,747 (GRCm39) S167P possibly damaging Het
Eif3m A T 2: 104,831,624 (GRCm39) V180D probably damaging Het
Fam217a T A 13: 35,094,864 (GRCm39) R207S probably damaging Het
Fcgbp G A 7: 27,806,518 (GRCm39) G2162D probably damaging Het
Fhod3 A T 18: 25,223,335 (GRCm39) I894F probably benign Het
Fpgs A T 2: 32,577,993 (GRCm39) I143N probably damaging Het
Fpr-rs6 A G 17: 20,403,152 (GRCm39) S70P probably benign Het
Frs2 T C 10: 116,914,806 (GRCm39) M38V probably damaging Het
Fsip2 A G 2: 82,810,902 (GRCm39) N2407S possibly damaging Het
Gabrg2 T A 11: 41,811,297 (GRCm39) T283S probably benign Het
Gas2l1 T A 11: 5,011,408 (GRCm39) T474S probably benign Het
Gli1 A T 10: 127,167,108 (GRCm39) M715K possibly damaging Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5800 T A 14: 51,949,396 (GRCm39) N183I possibly damaging Het
Gm8674 T A 13: 50,055,471 (GRCm39) noncoding transcript Het
Gnat3 A T 5: 18,224,508 (GRCm39) I303F possibly damaging Het
Grin2d C T 7: 45,506,251 (GRCm39) V547M probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Heatr5b T C 17: 79,103,347 (GRCm39) I1169V possibly damaging Het
Icam5 A G 9: 20,946,082 (GRCm39) T305A probably benign Het
Itga11 T A 9: 62,651,796 (GRCm39) N309K probably damaging Het
Itgb6 T C 2: 60,499,493 (GRCm39) D100G probably benign Het
Kdm3b A G 18: 34,946,597 (GRCm39) K862R probably benign Het
Kif7 T C 7: 79,361,286 (GRCm39) D135G probably benign Het
Lrp4 A G 2: 91,310,777 (GRCm39) D606G probably damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Metap1d A T 2: 71,352,927 (GRCm39) H252L possibly damaging Het
Mfhas1 A G 8: 36,058,251 (GRCm39) K909E possibly damaging Het
Mrgprh C T 17: 13,095,838 (GRCm39) T26I probably damaging Het
Myo15b T C 11: 115,754,310 (GRCm39) S937P probably benign Het
Neto2 A T 8: 86,397,033 (GRCm39) I73N possibly damaging Het
Nod2 T C 8: 89,390,347 (GRCm39) I196T probably benign Het
Nvl T G 1: 180,926,693 (GRCm39) T788P probably damaging Het
Or13a25 C A 7: 140,247,951 (GRCm39) C243* probably null Het
Or2h2 A T 17: 37,396,906 (GRCm39) D50E possibly damaging Het
Pax3 G A 1: 78,080,117 (GRCm39) T423I possibly damaging Het
Pde4dip A G 3: 97,600,007 (GRCm39) V2403A possibly damaging Het
Phip C T 9: 82,785,235 (GRCm39) V827I probably benign Het
Plcb3 A G 19: 6,941,977 (GRCm39) F285L probably damaging Het
Pnp2 A G 14: 51,193,675 (GRCm39) I16V probably benign Het
Pola2 A G 19: 6,003,769 (GRCm39) L202P probably damaging Het
Ppfia1 A T 7: 144,058,847 (GRCm39) N651K probably benign Het
Prss53 T C 7: 127,485,920 (GRCm39) probably null Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rasgrf2 A T 13: 92,131,825 (GRCm39) probably null Het
Rccd1 T A 7: 79,970,272 (GRCm39) N115I possibly damaging Het
Rpgrip1 A T 14: 52,352,101 (GRCm39) T26S possibly damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Slc36a4 T C 9: 15,632,085 (GRCm39) V87A probably damaging Het
Slc5a4b A T 10: 75,917,307 (GRCm39) V243E possibly damaging Het
Sos2 T G 12: 69,695,315 (GRCm39) I141L probably damaging Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tshr T C 12: 91,503,955 (GRCm39) S298P probably damaging Het
Tspan14 T C 14: 40,656,209 (GRCm39) Y6C probably damaging Het
Ttn A T 2: 76,577,384 (GRCm39) V24503E probably damaging Het
Vcan T A 13: 89,851,045 (GRCm39) N1305I probably damaging Het
Vmn2r81 A G 10: 79,083,628 (GRCm39) M1V probably null Het
Vps39 A T 2: 120,148,558 (GRCm39) V873E probably damaging Het
Vstm2a A T 11: 16,359,734 (GRCm39) D270V unknown Het
Wdr24 A T 17: 26,043,240 (GRCm39) M21L possibly damaging Het
Wee1 A G 7: 109,721,698 (GRCm39) T48A probably benign Het
Zfp369 T C 13: 65,444,965 (GRCm39) C703R probably damaging Het
Zfp532 A T 18: 65,818,682 (GRCm39) D1114V probably damaging Het
Zfp758 A G 17: 22,592,633 (GRCm39) T46A 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
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
R6455:Abcb5 UTSW 12 118,854,284 (GRCm39) critical splice donor site probably null
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'- TAACAGACATGGTCCATCTCCTG -3'
(R):5'- ATAGGTTCCAGTGCACTTCCG -3'

Sequencing Primer
(F):5'- GTCCATCTCCTGGGCTCAG -3'
(R):5'- CCATAATACCCTCAGACTGATGTTG -3'
Posted On 2014-07-14