Incidental Mutation 'IGL03189:Abcb1b'
ID 412554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcb1b
Ensembl Gene ENSMUSG00000028970
Gene Name ATP-binding cassette, sub-family B member 1B
Synonyms mdr, Pgy1, Mdr1b, Pgy-1, Mdr1, Abcb1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # IGL03189
Quality Score
Status
Chromosome 5
Chromosomal Location 8848147-8916314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8895814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 916 (T916A)
Ref Sequence ENSEMBL: ENSMUSP00000009058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000199955]
AlphaFold P06795
Predicted Effect probably benign
Transcript: ENSMUST00000009058
AA Change: T916A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: T916A

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 noncoding transcript
Transcript: ENSMUST00000196819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197961
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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A T 5: 8,161,897 (GRCm39) Y50* probably null Het
Adprs T C 4: 126,211,087 (GRCm39) probably benign Het
Ahnak G A 19: 8,988,603 (GRCm39) V3296M possibly damaging Het
Bfar A G 16: 13,505,365 (GRCm39) D125G possibly damaging Het
Bmp3 A T 5: 99,020,579 (GRCm39) Q334L probably benign Het
Camsap2 A T 1: 136,209,400 (GRCm39) D697E probably damaging Het
Car11 A G 7: 45,351,879 (GRCm39) T103A probably damaging Het
Cecr2 T A 6: 120,739,391 (GRCm39) S1373T probably benign Het
Cenpm A G 15: 82,118,634 (GRCm39) V160A possibly damaging Het
Chl1 A T 6: 103,660,168 (GRCm39) I365F possibly damaging Het
Col20a1 C T 2: 180,651,200 (GRCm39) Q1089* probably null Het
Csf1r A T 18: 61,239,058 (GRCm39) T13S probably benign Het
Fam13a T C 6: 58,933,843 (GRCm39) E249G probably damaging Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fhdc1 G A 3: 84,362,368 (GRCm39) probably benign Het
Fn3krp T C 11: 121,320,456 (GRCm39) I267T probably damaging Het
Fras1 A T 5: 96,890,930 (GRCm39) I2820F probably benign Het
Fyb2 A G 4: 104,872,939 (GRCm39) I771V probably damaging Het
Gata3os A G 2: 9,888,634 (GRCm39) probably benign Het
Glis1 A G 4: 107,472,248 (GRCm39) Y275C probably damaging Het
Hdgf A G 3: 87,820,735 (GRCm39) T62A possibly damaging Het
Hsd17b3 C T 13: 64,210,901 (GRCm39) probably null Het
Ift56 C T 6: 38,402,166 (GRCm39) P553S probably benign Het
Iqgap1 T A 7: 80,363,590 (GRCm39) Y1655F probably benign Het
Izumo1 A G 7: 45,274,588 (GRCm39) D181G probably damaging Het
Lrp2 T C 2: 69,268,822 (GRCm39) probably benign Het
Mark1 T C 1: 184,651,890 (GRCm39) N95S probably damaging Het
Mbd5 A G 2: 49,147,763 (GRCm39) K658E probably damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mfsd14a T C 3: 116,435,504 (GRCm39) D187G probably benign Het
Mrpl19 G T 6: 81,938,974 (GRCm39) S276* probably null Het
Ncoa2 G A 1: 13,260,360 (GRCm39) T105M probably damaging Het
Nop14 A G 5: 34,807,972 (GRCm39) probably benign Het
Or2ah1 A G 2: 85,653,902 (GRCm39) T196A probably benign Het
Or2aj5 T C 16: 19,425,341 (GRCm39) T26A probably benign Het
Or5w19 G A 2: 87,698,559 (GRCm39) A75T possibly damaging Het
Otud7b G A 3: 96,062,795 (GRCm39) S678N probably benign Het
Pcdhb6 G A 18: 37,469,205 (GRCm39) V25M probably damaging Het
Prpf39 G T 12: 65,090,076 (GRCm39) G5* probably null Het
Serpinb9d T C 13: 33,386,895 (GRCm39) V321A probably damaging Het
Sh2b1 A G 7: 126,067,702 (GRCm39) S613P possibly damaging Het
Snx30 T C 4: 59,857,452 (GRCm39) I55T probably benign Het
Spata13 T C 14: 60,929,063 (GRCm39) I207T possibly damaging Het
Suco T C 1: 161,684,906 (GRCm39) probably benign Het
Svs5 A G 2: 164,079,032 (GRCm39) S292P possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tmem45a A T 16: 56,631,936 (GRCm39) Y227* probably null Het
Tnfsf15 A G 4: 63,648,289 (GRCm39) probably benign Het
Vmn2r4 C A 3: 64,296,589 (GRCm39) R732L possibly damaging Het
Wdr7 C T 18: 63,893,672 (GRCm39) T602I probably benign 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
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
R4674:Abcb1b UTSW 5 8,860,615 (GRCm39) missense probably benign
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
Posted On 2016-08-02