Incidental Mutation 'R4606:Abcb5'
ID 346036
Institutional Source Beutler Lab
Gene Symbol Abcb5
Ensembl Gene ENSMUSG00000072791
Gene Name ATP-binding cassette, sub-family B member 5
Synonyms 9230106F14Rik
MMRRC Submission 041817-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R4606 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 118831559-118930156 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 118896345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035515] [ENSMUST00000035515] [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 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 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
Meta Mutation Damage Score 0.9482 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (69/72)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,937,374 (GRCm39) W178R probably benign Het
Akr1b1 C A 6: 34,283,599 (GRCm39) probably benign Het
Arid1a A G 4: 133,414,634 (GRCm39) F1199S unknown Het
Atp4b A G 8: 13,439,998 (GRCm39) F116S probably damaging Het
Atp6v1b1 T C 6: 83,729,443 (GRCm39) S127P probably damaging Het
Blk C T 14: 63,611,652 (GRCm39) V428I probably benign Het
Ccser1 T C 6: 61,288,568 (GRCm39) S244P probably damaging Het
Ceacam1 T A 7: 25,173,951 (GRCm39) I235F probably damaging Het
Cyp2g1 T A 7: 26,513,579 (GRCm39) Y173N possibly damaging Het
Ddr2 T A 1: 169,829,421 (GRCm39) I278F probably benign Het
Degs1 T C 1: 182,104,388 (GRCm39) D299G probably damaging Het
Dip2b G A 15: 100,113,210 (GRCm39) V1542I possibly damaging Het
Dmxl1 T A 18: 50,095,248 (GRCm39) S2942R probably damaging Het
Dpf1 T A 7: 29,016,015 (GRCm39) probably benign Het
Ephb6 A G 6: 41,593,508 (GRCm39) Y518C probably benign Het
Eps15l1 A T 8: 73,127,760 (GRCm39) F606I possibly damaging Het
Extl1 A G 4: 134,098,690 (GRCm39) S114P probably damaging Het
Extl1 A C 4: 134,098,691 (GRCm39) D113E probably benign Het
Fat1 T C 8: 45,403,720 (GRCm39) V157A possibly damaging Het
Fcho1 A T 8: 72,165,124 (GRCm39) D444E probably benign Het
Fgd3 T A 13: 49,450,036 (GRCm39) D71V probably damaging Het
Fgd5 T A 6: 91,965,190 (GRCm39) D316E possibly damaging Het
Gys2 A T 6: 142,400,210 (GRCm39) F334I possibly damaging Het
Ik G T 18: 36,886,608 (GRCm39) R360L possibly damaging Het
Kazn A C 4: 141,845,599 (GRCm39) probably null Het
Kmt2d A T 15: 98,737,597 (GRCm39) probably benign Het
Krr1 T C 10: 111,811,582 (GRCm39) probably benign Het
Krt87 C T 15: 101,384,930 (GRCm39) E389K probably benign Het
Lrrc4c T C 2: 97,460,658 (GRCm39) V428A probably benign Het
Lvrn C A 18: 46,997,832 (GRCm39) T260K possibly damaging Het
Mcc C T 18: 44,601,488 (GRCm39) E614K probably damaging Het
Msrb3 A T 10: 120,685,902 (GRCm39) V81D probably damaging Het
Muc19 C T 15: 91,832,268 (GRCm39) noncoding transcript Het
Myadm T A 7: 3,345,916 (GRCm39) L226* probably null Het
Myof C T 19: 37,955,547 (GRCm39) V526M probably damaging Het
Nckap5l A G 15: 99,327,204 (GRCm39) probably benign Het
Or1r1 A G 11: 73,874,718 (GRCm39) S239P probably damaging Het
Or4b1 G T 2: 89,979,160 (GRCm39) probably benign Het
Or4c35 C A 2: 89,808,350 (GRCm39) A76D possibly damaging Het
Or9g10 T A 2: 85,584,284 (GRCm39) probably benign Het
Pars2 T C 4: 106,511,247 (GRCm39) V307A probably benign Het
Pcdhb1 T G 18: 37,398,581 (GRCm39) Y177* probably null Het
Pcdhb4 T A 18: 37,441,705 (GRCm39) D338E probably damaging Het
Pik3r2 G A 8: 71,224,780 (GRCm39) R199* probably null Het
Pla2g4f C T 2: 120,144,467 (GRCm39) R24Q probably benign Het
Pnma2 T C 14: 67,153,681 (GRCm39) I35T probably benign Het
Podn C A 4: 107,875,064 (GRCm39) A568S probably benign Het
Pou3f1 A T 4: 124,552,629 (GRCm39) E377V probably damaging Het
Ppfia1 T C 7: 144,038,929 (GRCm39) D494G probably damaging Het
Pramel34 A T 5: 93,784,461 (GRCm39) D137E probably damaging Het
Ptpn9 A T 9: 56,929,495 (GRCm39) T71S possibly damaging Het
Ptprz1 C T 6: 23,001,486 (GRCm39) P1192L possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf217 T A 10: 31,393,472 (GRCm39) K370* probably null Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Scaper A T 9: 55,563,187 (GRCm39) probably null Het
Sos2 T C 12: 69,661,380 (GRCm39) probably benign Het
Sptbn5 C T 2: 119,897,927 (GRCm39) probably null Het
Sumo1 A G 1: 59,683,668 (GRCm39) probably benign Het
Syne2 C A 12: 76,036,027 (GRCm39) N3771K probably damaging Het
Tbx18 T C 9: 87,612,822 (GRCm39) I26V possibly damaging Het
Trpm3 T A 19: 22,955,988 (GRCm39) M1140K probably benign Het
Usp29 G A 7: 6,966,356 (GRCm39) probably null Het
Wdr7 C T 18: 63,913,016 (GRCm39) Q946* probably null Het
Ythdf1 T C 2: 180,553,975 (GRCm39) D46G probably damaging Het
Zfp217 T C 2: 169,961,670 (GRCm39) N219S possibly damaging Het
Zkscan3 A G 13: 21,577,953 (GRCm39) I256T probably benign 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
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'- CCGGAGTTGAATGTTCCTATCTTTC -3'
(R):5'- TATATGCCCAGGAGAGGTATTGC -3'

Sequencing Primer
(F):5'- CAGGTTCCTTCTTAGAGTAAGGACAG -3'
(R):5'- CCCAGGAGAGGTATTGCTGGATC -3'
Posted On 2015-09-25