Incidental Mutation 'R4674:Abcb1b'
ID 500720
Institutional Source Beutler Lab
Gene Symbol Abcb1b
Ensembl Gene ENSMUSG00000028970
Gene Name ATP-binding cassette, sub-family B member 1B
Synonyms mdr, Pgy1, Mdr1b, Pgy-1, Mdr1, Abcb1
MMRRC Submission 041929-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # R4674 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 8848147-8916314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8860615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 112 (I112T)
Ref Sequence ENSEMBL: ENSMUSP00000009058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000196580] [ENSMUST00000199955]
AlphaFold P06795
Predicted Effect probably benign
Transcript: ENSMUST00000009058
AA Change: I112T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: I112T

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
Pfam:ABC_membrane 50 342 1.4e-96 PFAM
AAA 418 610 4.32e-21 SMART
Pfam:ABC_membrane 709 984 1.9e-75 PFAM
AAA 1060 1248 4.13e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196580
SMART Domains Protein: ENSMUSP00000143612
Gene: ENSMUSG00000028970

DomainStartEndE-ValueType
PDB:4M2T|B 1 78 2e-26 PDB
Blast:AAA 33 78 2e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000199955
SMART Domains Protein: ENSMUSP00000143766
Gene: ENSMUSG00000028970

DomainStartEndE-ValueType
PDB:4M2T|B 1 78 2e-26 PDB
Blast:AAA 33 78 2e-11 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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. This gene encodes a membrane glycoprotein which confers a multidrug-resistance phenotype. The protein encoded by the human gene is an ATP-dependent drug efflux pump for xenobiotic compounds which is responsible for decreased drug accumulation in multidrug-resistant cells and mediates the development of resistance to anticancer drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are hypersensitive to effects of drugs transported by phosphoglycoproteins. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(2) Gene trapped(8)

Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b T C 15: 101,100,939 (GRCm39) I367T possibly damaging Het
Akr1b8 G A 6: 34,333,359 (GRCm39) probably null Het
Ash1l T C 3: 88,979,783 (GRCm39) V2769A possibly damaging Het
Asxl3 A T 18: 22,650,795 (GRCm39) D928V probably damaging Het
Atp1a4 A T 1: 172,085,223 (GRCm39) V66E possibly damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Cbx2 T A 11: 118,919,935 (GRCm39) I500N probably damaging Het
Ccdc82 A T 9: 13,252,260 (GRCm39) H184L probably benign Het
Cd84 A T 1: 171,700,887 (GRCm39) H216L possibly damaging Het
Ceacam15 T C 7: 16,407,410 (GRCm39) T36A probably benign Het
Cebpd A G 16: 15,705,385 (GRCm39) D66G probably damaging Het
Clec1b C A 6: 129,377,097 (GRCm39) L47I probably damaging Het
Cracr2b A G 7: 141,043,451 (GRCm39) D43G probably damaging Het
Crbn T A 6: 106,767,932 (GRCm39) Q173L possibly damaging Het
Cspg4 T C 9: 56,805,489 (GRCm39) V2100A probably damaging Het
Cyp46a1 T C 12: 108,324,345 (GRCm39) L374P probably damaging Het
Dhx16 T A 17: 36,196,831 (GRCm39) V607E probably damaging Het
Dido1 A G 2: 180,329,352 (GRCm39) S357P probably damaging Het
Dnah6 T A 6: 73,169,405 (GRCm39) I399F probably benign Het
Dock10 T C 1: 80,584,337 (GRCm39) E123G possibly damaging Het
Dstyk A G 1: 132,391,128 (GRCm39) D843G probably benign Het
Efcab12 C A 6: 115,800,610 (GRCm39) V138F probably damaging Het
Egf A G 3: 129,511,689 (GRCm39) F493L probably damaging Het
Ephx1 A G 1: 180,822,256 (GRCm39) F220S probably damaging Het
Exoc6 T C 19: 37,597,530 (GRCm39) F644L probably damaging Het
F13b A G 1: 139,429,542 (GRCm39) Y20C unknown Het
Fam184b T A 5: 45,740,230 (GRCm39) K319* probably null Het
Flrt2 T A 12: 95,747,462 (GRCm39) L600* probably null Het
Gbgt1 T C 2: 28,388,453 (GRCm39) F46S possibly damaging Het
Gli2 T C 1: 118,763,759 (GRCm39) E1464G probably damaging Het
Hdac9 A G 12: 34,423,959 (GRCm39) V501A possibly damaging Het
Heca T C 10: 17,791,057 (GRCm39) H333R probably benign Het
Hirip3 G A 7: 126,463,834 (GRCm39) probably null Het
Igsf8 G A 1: 172,146,479 (GRCm39) W51* probably null Het
Kif21a C A 15: 90,824,748 (GRCm39) R1342L possibly damaging Het
Krt73 T C 15: 101,710,510 (GRCm39) N75D probably benign Het
Macf1 T A 4: 123,366,190 (GRCm39) Y1292F probably benign Het
Macroh2a1 A C 13: 56,230,997 (GRCm39) C297G possibly damaging Het
Mapk14 A G 17: 28,963,996 (GRCm39) probably null Het
Mgat5 T A 1: 127,318,495 (GRCm39) V330D probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 A T 13: 100,580,682 (GRCm39) F188L probably damaging Het
Ncoa3 T C 2: 165,901,731 (GRCm39) S1035P probably benign Het
Ndn T A 7: 61,998,570 (GRCm39) W139R probably damaging Het
Nes T C 3: 87,879,102 (GRCm39) V198A possibly damaging Het
Or4c107 G T 2: 88,789,216 (GRCm39) M135I probably damaging Het
Or4c35 A G 2: 89,808,250 (GRCm39) I43V possibly damaging Het
Or51ab3 T G 7: 103,201,183 (GRCm39) L64V probably damaging Het
Or52p1 T A 7: 104,267,631 (GRCm39) C248* probably null Het
Or5b111 T A 19: 13,291,178 (GRCm39) H157L probably benign Het
Or5p72 T C 7: 108,022,309 (GRCm39) V177A possibly damaging Het
Pcf11 G A 7: 92,308,985 (GRCm39) probably benign Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Pipox T G 11: 77,784,596 (GRCm39) Q4P probably benign Het
Pla2g4c C T 7: 13,077,439 (GRCm39) T327I probably null Het
Plppr1 C T 4: 49,323,384 (GRCm39) R225W probably damaging Het
Pnpla6 T A 8: 3,571,412 (GRCm39) V145D probably damaging Het
Pnpla7 T C 2: 24,942,329 (GRCm39) Y83H probably damaging Het
Rif1 T A 2: 51,996,954 (GRCm39) L970Q probably null Het
Rimklb C A 6: 122,433,242 (GRCm39) E303* probably null Het
Rpl13a A T 7: 44,776,242 (GRCm39) probably benign Het
Rttn T A 18: 89,029,135 (GRCm39) probably null Het
Sf3b3 G A 8: 111,571,137 (GRCm39) R10W probably damaging Het
Skint4 G A 4: 111,975,430 (GRCm39) C130Y probably damaging Het
Snap91 A G 9: 86,674,070 (GRCm39) S593P possibly damaging Het
Ssb A G 2: 69,699,194 (GRCm39) Q209R probably benign Het
Stap1 A T 5: 86,229,044 (GRCm39) I71L probably benign Het
Syna C A 5: 134,587,209 (GRCm39) R580L probably damaging Het
Tacc2 T A 7: 130,226,591 (GRCm39) M1111K possibly damaging Het
Tanc2 T C 11: 105,758,306 (GRCm39) L689P probably damaging Het
Tasor2 T C 13: 3,623,686 (GRCm39) E1406G possibly damaging Het
Tcstv7b T C 13: 120,702,362 (GRCm39) W53R probably damaging Het
Tdrd5 A C 1: 156,105,005 (GRCm39) C463W probably damaging Het
Tet1 A G 10: 62,674,627 (GRCm39) F1150L probably damaging Het
Tia1 T A 6: 86,397,382 (GRCm39) F118L probably damaging Het
Trav3-1 A T 14: 52,818,460 (GRCm39) T45S possibly damaging Het
Uaca A T 9: 60,761,711 (GRCm39) Y235F possibly damaging Het
Ube4b T C 4: 149,415,827 (GRCm39) N44S possibly damaging Het
Vmn2r93 T A 17: 18,525,255 (GRCm39) H304Q probably benign Het
Wdr18 A G 10: 79,801,069 (GRCm39) I161V probably benign Het
Zfp112 A G 7: 23,826,399 (GRCm39) H789R probably damaging Het
Zfp873 A G 10: 81,895,814 (GRCm39) T182A possibly damaging Het
Zscan2 T A 7: 80,525,150 (GRCm39) S290R probably damaging Het
Zup1 A T 10: 33,824,980 (GRCm39) D167E possibly damaging Het
Other mutations in Abcb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Abcb1b APN 5 8,877,704 (GRCm39) missense probably benign 0.34
IGL00979:Abcb1b APN 5 8,875,293 (GRCm39) splice site probably benign
IGL02157:Abcb1b APN 5 8,855,487 (GRCm39) splice site probably benign
IGL02478:Abcb1b APN 5 8,856,018 (GRCm39) missense probably damaging 0.98
IGL03174:Abcb1b APN 5 8,877,752 (GRCm39) missense probably benign 0.03
IGL03189:Abcb1b APN 5 8,895,814 (GRCm39) missense probably benign
IGL03195:Abcb1b APN 5 8,903,607 (GRCm39) missense possibly damaging 0.83
PIT4283001:Abcb1b UTSW 5 8,863,693 (GRCm39) missense probably damaging 1.00
R0049:Abcb1b UTSW 5 8,875,661 (GRCm39) missense probably damaging 1.00
R0166:Abcb1b UTSW 5 8,903,468 (GRCm39) missense probably damaging 1.00
R0254:Abcb1b UTSW 5 8,877,409 (GRCm39) missense probably benign
R0319:Abcb1b UTSW 5 8,877,428 (GRCm39) missense probably benign 0.01
R0358:Abcb1b UTSW 5 8,871,423 (GRCm39) missense probably benign 0.16
R0365:Abcb1b UTSW 5 8,856,009 (GRCm39) missense probably damaging 1.00
R0408:Abcb1b UTSW 5 8,903,446 (GRCm39) missense probably damaging 0.98
R0521:Abcb1b UTSW 5 8,914,238 (GRCm39) missense probably damaging 1.00
R0533:Abcb1b UTSW 5 8,914,113 (GRCm39) critical splice acceptor site probably null
R0847:Abcb1b UTSW 5 8,895,764 (GRCm39) missense probably damaging 0.99
R1037:Abcb1b UTSW 5 8,875,657 (GRCm39) missense probably benign 0.03
R1432:Abcb1b UTSW 5 8,887,771 (GRCm39) missense possibly damaging 0.69
R1437:Abcb1b UTSW 5 8,871,436 (GRCm39) missense possibly damaging 0.90
R1520:Abcb1b UTSW 5 8,864,768 (GRCm39) missense probably damaging 1.00
R1686:Abcb1b UTSW 5 8,848,782 (GRCm39) missense probably damaging 0.97
R1700:Abcb1b UTSW 5 8,899,537 (GRCm39) missense probably benign 0.44
R1973:Abcb1b UTSW 5 8,862,746 (GRCm39) missense probably benign 0.01
R1993:Abcb1b UTSW 5 8,871,322 (GRCm39) missense possibly damaging 0.61
R2157:Abcb1b UTSW 5 8,874,791 (GRCm39) missense probably benign 0.37
R2207:Abcb1b UTSW 5 8,874,803 (GRCm39) missense probably benign 0.23
R2968:Abcb1b UTSW 5 8,911,485 (GRCm39) missense probably damaging 1.00
R3858:Abcb1b UTSW 5 8,863,581 (GRCm39) missense probably benign 0.11
R4223:Abcb1b UTSW 5 8,863,722 (GRCm39) missense probably damaging 0.97
R4379:Abcb1b UTSW 5 8,915,875 (GRCm39) missense probably benign 0.00
R4964:Abcb1b UTSW 5 8,911,602 (GRCm39) missense probably damaging 1.00
R4964:Abcb1b UTSW 5 8,862,671 (GRCm39) missense probably benign 0.00
R5167:Abcb1b UTSW 5 8,862,656 (GRCm39) missense probably damaging 0.98
R5216:Abcb1b UTSW 5 8,863,705 (GRCm39) missense probably benign 0.04
R5328:Abcb1b UTSW 5 8,887,694 (GRCm39) missense possibly damaging 0.69
R5391:Abcb1b UTSW 5 8,855,481 (GRCm39) missense probably null 0.00
R5399:Abcb1b UTSW 5 8,877,410 (GRCm39) missense probably benign
R6047:Abcb1b UTSW 5 8,856,066 (GRCm39) missense probably damaging 1.00
R6157:Abcb1b UTSW 5 8,874,245 (GRCm39) missense possibly damaging 0.81
R6293:Abcb1b UTSW 5 8,903,493 (GRCm39) missense probably benign 0.05
R6493:Abcb1b UTSW 5 8,874,698 (GRCm39) missense probably damaging 1.00
R6593:Abcb1b UTSW 5 8,903,491 (GRCm39) missense probably benign
R6799:Abcb1b UTSW 5 8,862,656 (GRCm39) missense probably damaging 0.98
R6944:Abcb1b UTSW 5 8,863,693 (GRCm39) missense probably damaging 1.00
R7028:Abcb1b UTSW 5 8,855,441 (GRCm39) missense probably damaging 0.99
R7227:Abcb1b UTSW 5 8,875,593 (GRCm39) missense probably damaging 1.00
R7495:Abcb1b UTSW 5 8,915,871 (GRCm39) missense probably damaging 1.00
R7573:Abcb1b UTSW 5 8,878,866 (GRCm39) missense possibly damaging 0.80
R7681:Abcb1b UTSW 5 8,899,619 (GRCm39) missense probably benign 0.00
R7827:Abcb1b UTSW 5 8,887,747 (GRCm39) missense probably damaging 0.96
R7860:Abcb1b UTSW 5 8,882,258 (GRCm39) missense probably benign 0.12
R7961:Abcb1b UTSW 5 8,878,870 (GRCm39) missense possibly damaging 0.65
R8009:Abcb1b UTSW 5 8,878,870 (GRCm39) missense possibly damaging 0.65
R8054:Abcb1b UTSW 5 8,874,272 (GRCm39) missense probably benign
R8226:Abcb1b UTSW 5 8,871,390 (GRCm39) missense probably damaging 1.00
R8283:Abcb1b UTSW 5 8,856,086 (GRCm39) missense probably damaging 1.00
R8286:Abcb1b UTSW 5 8,914,119 (GRCm39) missense probably damaging 1.00
R8362:Abcb1b UTSW 5 8,848,758 (GRCm39) missense probably benign 0.00
R8387:Abcb1b UTSW 5 8,874,698 (GRCm39) missense probably damaging 1.00
R8426:Abcb1b UTSW 5 8,911,632 (GRCm39) critical splice donor site probably null
R8495:Abcb1b UTSW 5 8,915,865 (GRCm39) missense probably damaging 0.99
R8715:Abcb1b UTSW 5 8,862,750 (GRCm39) missense probably benign
R8874:Abcb1b UTSW 5 8,875,671 (GRCm39) missense possibly damaging 0.95
R9236:Abcb1b UTSW 5 8,874,893 (GRCm39) critical splice donor site probably null
R9292:Abcb1b UTSW 5 8,862,843 (GRCm39) missense probably benign 0.20
R9300:Abcb1b UTSW 5 8,875,614 (GRCm39) missense probably benign 0.00
R9387:Abcb1b UTSW 5 8,875,614 (GRCm39) missense probably benign 0.00
R9389:Abcb1b UTSW 5 8,875,614 (GRCm39) missense probably benign 0.00
R9616:Abcb1b UTSW 5 8,862,779 (GRCm39) missense probably benign 0.02
R9694:Abcb1b UTSW 5 8,899,573 (GRCm39) missense probably damaging 0.99
X0025:Abcb1b UTSW 5 8,874,515 (GRCm39) missense possibly damaging 0.91
X0061:Abcb1b UTSW 5 8,914,269 (GRCm39) splice site probably null
Z1176:Abcb1b UTSW 5 8,877,441 (GRCm39) missense probably benign
Z1177:Abcb1b UTSW 5 8,887,596 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGCCAGCAGGAAAGTGTTTG -3'
(R):5'- CCAGCCTTATTACCATTATTACTAGGG -3'

Sequencing Primer
(F):5'- CTGAATTGATCACTTGAATCCTGC -3'
(R):5'- CCATTATTACTAGGGAAACTGTGC -3'
Posted On 2017-12-01